757 results on '"Prenatal Diagnosis"'
Search Results
2. Fetal single ventricle journey to first postnatal procedure: a multicentre UK cohort study.
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Lillitos, Peter John, Nolan, Oscar, Cave, Daniel G. W., Lomax, Catherine, Barwick, Shuba, Bentham, James R., and Seale, Anna N.
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HYPOPLASTIC left heart syndrome ,NATURAL history ,LOW birth weight ,FETAL diseases ,CONGENITAL heart disease ,SOUTH Asians ,HYDROPS fetalis ,PRENATAL diagnosis - Published
- 2024
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3. Potential benefits of prenatal diagnosis of TGA in Australia may be outweighed by the adverse effects of earlier delivery: likely causation and potential solutions.
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Namachivayam, Siva P., Butt, Warwick, Brizard, Christian, Millar, Johnny, Thompson, Jenny, Walker, Susan P., and Cheung, Michael M. H.
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PRENATAL diagnosis ,NEONATAL surgery ,DELAYED diagnosis ,TRANSPOSITION of great vessels ,DELIVERY (Obstetrics) ,LOW birth weight - Published
- 2024
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4. Intrahepatic portosystemic shunts, from prenatal diagnosis to postnatal outcome: a retrospective study.
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Saban, Or Steg, Weissbach, Tal, Achiron, Reuven, Zlotin, Marina Pekar, Haberman, Yael, Heusler, Adi Anis, Kassif, Eran, and Weiss, Batia
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PRENATAL diagnosis ,FAILURE to thrive syndrome ,ESOPHAGEAL atresia ,HEPATIC portal system - Published
- 2023
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5. Neonatal and fetal therapy of congenital diaphragmatic hernia-related pulmonary hypertension.
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De Bie, Felix R., Avitabile, Catherine M., Joyeux, Luc, Hedrick, Holly L., Russo, Francesca M., Basurto, David, Deprest, Jan, and Rintoul, Natalie E.
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PULMONARY hypertension ,MEDICAL sciences ,VASCULAR remodeling ,PREMATURE infants ,RIGHT ventricular dysfunction ,LEFT ventricular dysfunction ,PULMONARY hypertension treatment ,GENETIC disorder treatment ,PRENATAL diagnosis ,LUNGS ,GENETIC disorders ,DIAPHRAGMATIC hernia ,FETAL diseases ,DISEASE complications - Abstract
Congenital diaphragmatic hernia (CDH) is a complex malformation characterised by a triad of pulmonary hypoplasia, pulmonary hypertension (PH) and cardiac ventricular dysfunction. Much of the mortality and morbidity in CDH is largely accounted for by PH, especially when persistent beyond the neonatal period and refractory to available treatment. Gentle ventilation, haemodynamic optimisation and pulmonary vasodilation constitute the foundations of neonatal treatment of CDH-related PH (CDH-PH). Moreover, early prenatal diagnosis, the ability to assess severity and the developmental nature of the condition generate the perfect rationale for fetal therapy. Shortcomings of currently available clinical therapies in combination with increased understanding of CDH pathophysiology have spurred experimental drug trials, exploring new therapeutic mechanisms to tackle CDH-PH. We herein discuss clinically available neonatal and fetal therapies specifically targeting CDH-PH and review the most promising experimental treatments and future research avenues. [ABSTRACT FROM AUTHOR]
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- 2022
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6. How do we use the opportunity of prenatal diagnosis of congenital heart disease to optimise outcome?
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Jowett, Victoria
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HEART disease diagnosis ,CONGENITAL heart disease ,PRENATAL diagnosis ,NEONATAL surgery ,DELIVERY (Obstetrics) ,TRANSPOSITION of great vessels ,CESAREAN section - Published
- 2024
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7. Palliative care for children with complex cardiac conditions: survey results.
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Vemuri, Sidharth, Butler, Ashleigh E., Brown, Katherine, Wray, Jo, and Bluebond-Langner, Myra
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HEART assist devices ,HEART failure ,PALLIATIVE treatment ,ADVANCE directives (Medical care) ,OCCUPATIONAL roles ,HEART transplantation ,PRENATAL diagnosis - Abstract
Objective: To explore perspectives of paediatric cardiac and palliative care professionals on providing palliative care to children with complex cardiac conditions.Design: A national survey including closed-ended and open-ended questions as well as clinical scenarios designed to capture referral practices, attitudes towards palliative care, confidence delivering key components of palliative care and perspectives on for whom to provide palliative care. Responses to closed-ended questions and scenarios were analysed using descriptive statistics. Open-ended responses were analysed thematically.Participants: Paediatric cardiac and palliative care professionals caring for children with complex cardiac conditions in the UK.Results: 177 professionals (91 cardiac care and 86 palliative care) responded. Aspects of advance care planning were the most common reasons for referral to palliative care. Palliative care professionals reported greater confidence than cardiac colleagues with such discussions. Clinicians agreed that children with no further surgical management options, comorbid genetic disorders, antenatal diagnosis of a single ventricle, ventricular device in situ, symptomatic heart failure and those awaiting heart transplantation would benefit from palliative care involvement.Conclusions: Components of palliative care, such as advance care planning, can be provided by cardiac care professionals alongside the disease-directed care of children with complex cardiac conditions. Further research and training are needed to address confidence levels in cardiac care professionals in delivering components of palliative care as well as clarification of professional roles and parent preferences in delivery of family-centred care for children with complex cardiac conditions. [ABSTRACT FROM AUTHOR]- Published
- 2022
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8. Oesophageal atresia: sonographic signs may prenatally predict surgical complexity.
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Weissbach, Tal, Kushnir, Anya, Haber Kaptsenel, Ella, Leibovitch, Leah, Bilik, Ron, Shinhar, Daniel, Karplus, Gideon, Achiron, Reuven, Kivilevitch, Zvi, Barzilay, Eran, Mazaki Tovi, Shali, Weisz, Boaz, and Kassif, Eran
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ESOPHAGEAL atresia ,FISTULA ,POLYHYDRAMNIOS ,PRENATAL diagnosis ,MULTIVARIATE analysis ,LOGISTIC regression analysis ,STOMACH ,HUMAN abnormalities ,TRACHEAL fistula ,SURGICAL anastomosis ,RETROSPECTIVE studies ,FETAL ultrasonic imaging - Abstract
Objective: Oesophageal atresia (OA) is a major anomaly of varying severity. The complexity of surgical correction highly depends on the gap length of missing oesophagus and the presence of a distal fistula. The aim of this study was to identify antenatal sonographic findings associated with presence of a distal fistula and type of surgical repair METHODS: Prenatal medical records of neonates postnatally diagnosed with OA were reviewed. Sonographic signs of OA (small/absent stomach, polyhydramnios, oesophageal pouch) and the trimester at sign detection were recorded and compared between (1) OA with and without a distal fistula and (2) early one-step versus delayed two-step anastomosis. Multivariate analysis was performed.Results: Overall, 80 cases of OA were included. Absence of a distal fistula was significantly associated with higher rates of small/absent stomach (100% vs 28.6%, P<0.0001), oesophageal pouch (100% vs 24.3%, P<0.0001) and severe polyhydramnios (66.7% vs 22.9%, P=0.006), compared with OA with a distal fistula.Cases requiring a delayed two-step repair had higher rates of small/absent stomach (84.2% vs 16.7%, P>0.0001), severe polyhydramnios (47.4% vs 16.7%, P=0.008) and oesophageal pouch (73.7% vs 18.5%, P<0.0001), compared with those corrected in an early one-step anastomosis.Multivariate logistic regression found small/absent stomach and pouch to be significantly and independently associated with a delayed two-step anastomosis.Conclusion: OA without a distal fistula is associated with higher rates of prenatal sonographic signs. Both small/absent stomach and a pouch are independently associated with a delayed two-step anastomosis. These findings may help improve antenatal parental counselling regarding the anticipated surgical repair. [ABSTRACT FROM AUTHOR]- Published
- 2022
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9. Long-term outcomes in children with absent pulmonary valve syndrome: it is not just fixing the heart.
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Torok, Katalin, Brettle, Elizabeth, Desai, Tarak, Miller, Paul, Khan, Natasha, Stickey, John, Nagakumar, Prasad, and Seale, Anna
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VENTRICULAR septal defects ,PULMONARY valve ,PRENATAL diagnosis ,NEONATAL surgery ,FETAL MRI - Abstract
Objective: Absent pulmonary valve syndrome (APV) is a rare condition usually associated with tetralogy of Fallot (TOF). Some infants develop respiratory failure from bronchial compression and the long-term neurodevelopmental outcome is unknown. We aimed to investigate the outcomes of APV and the need for long-term ventilation (LTV).Design, Patients and Setting: Retrospective single-centre review of patients diagnosed with APV between 2007 and 2017.Outcome Measures: Survival, neurological disability and postoperative LTV (≥3 months of non-invasive or invasive respiratory support).Results: Thirty patients were identified, 22 (73%) of whom were prenatally diagnosed. Pregnancy was discontinued in one patient, while in utero death occurred in three. One was lost to follow-up. Of the remaining 25 liveborn, 21 had the classic TOF/APV. One baby died immediately after birth, while two patients had palliative care due to severe airway compression and inability to wean ventilation support. Surgical repair was performed in 21 of the 25 (84%) liveborn, with one awaiting surgery. Of those undergoing surgery, two patients died: one during surgery and the other due to severe airway malacia 5 months postsurgery. In the surgical group survival from birth at 1 and 5 years was 89% (95% CI 75% to 100%). Six (30%) patients required LTV postoperatively; all had surgery within the first 6 months of life. Learning and/or other physical difficulties were evident in 63%.Conclusions: Majority of patients with APV are diagnosed antenatally. A third of those operated required LTV and over half had learning and/or other physical difficulties. Prospective studies are needed to identify prenatal factors that predict postnatal outcomes so parents can be counselled appropriately. [ABSTRACT FROM AUTHOR]- Published
- 2021
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10. A brief and personal history of ‘what’s in a name’ in reproductive genetics.
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Nisker, Jeff
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PRENATAL diagnosis ,OVUM donation ,GENETICS ,CELL-free DNA ,REPRODUCTIVE technology ,HUMAN reproductive technology ,EMBRYOLOGY - Published
- 2021
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11. Surrogacy: of Byzantine complexity.
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Wheeler, Robert
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SURROGATE mothers ,SINGLE parents ,BIRTHPARENTS ,BIRTH certificates ,MOTHERS ,INFANT care ,PRENATAL diagnosis - Published
- 2023
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12. Unconditional access to non-invasive prenatal testing (NIPT) for adult-onset conditions: a defence.
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Marks IR, Mills C, and Devolder K
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- Pregnancy, Adult, Female, Humans, Prospective Studies, Attitude, Parents, Australia, Prenatal Diagnosis, Aneuploidy, Genetic Testing, Huntington Disease
- Abstract
Over the past decade, non-invasive prenatal testing (NIPT) has been adopted into routine obstetric care to screen for fetal sex, trisomies 21, 18 and 13, sex chromosome aneuploidies and fetal sex determination. It is predicted that the scope of NIPT will be expanded in the future, including screening for adult-onset conditions (AOCs). Some ethicists have proposed that using NIPT to detect severe autosomal AOCs that cannot be prevented or treated, such as Huntington's disease, should only be offered to prospective parents who intend to terminate a pregnancy in the case of a positive result. We refer to this as the 'conditional access model' (CAM) for NIPT. We argue against CAM for NIPT to screen for Huntington's disease or any other AOC. Next, we present results from a study we conducted in Australia that explored NIPT users' attitudes regarding CAM in the context of NIPT for AOCs. We found that, despite overall support for NIPT for AOCs, most participants were not in favour of CAM for both preventable and non-preventable AOCs. Our findings are discussed in relation to our initial theoretical ethical theory and with other comparable empirical studies. We conclude that an 'unconditional access model' (UAM), which provides unrestricted access to NIPT for AOCs, is a morally preferable alternative that avoids both CAM's fundamental practical limitations and the limitations it places on parents' reproductive autonomy., Competing Interests: Competing interests: CM has received funding from the Australian Research Council for the project LP190100841, which includes partnership funding from Illumina and Victorian Clinical Genetic Services. Funding from Illumina is a potential conflict of interest., (© Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ.)
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- 2024
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13. Non-invasive prenatal testing for aneuploidy screening.
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Spencer, Rebecca, Hewitt, Hilary, McCarthy, Laura, Wimalasundera, Ruwan, and Pandya, Pranav
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ANEUPLOIDY ,CHROMOSOME abnormalities ,COUNSELING ,DECISION making ,DIAGNOSTIC errors ,HEALTH ,MEDICAL care costs ,MEDICAL screening ,PATIENT education ,PREGNANT women ,PRENATAL care ,PRENATAL diagnosis ,INFORMATION resources ,ELIGIBILITY (Social aspects) - Published
- 2020
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14. Frequency of urinary tract infection in children with antenatal diagnosis of urinary tract dilatation.
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Pennesi, Marco, Amoroso, Stefano, Bassanese, Giulia, Pintaldi, Stefano, Giacomini, Giulia, and Barbi, Egidio
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URINARY tract infections ,URINALYSIS ,ANTIBIOTIC prophylaxis ,URINARY organs ,PRENATAL diagnosis ,VESICO-ureteral reflux ,RESEARCH ,PATHOLOGICAL anatomy ,RESEARCH methodology ,EVALUATION research ,MEDICAL cooperation ,FETAL diseases ,COMPARATIVE studies ,FETAL ultrasonic imaging - Abstract
Background: Neonates with congenital urinary tract dilatation (UTD) may have an increased risk of urinary tract infections (UTI). At present, the management of these patients is controversial and the utility of continuous antibiotic prophylaxis (CAP) remains uncertain as the literature presents contradicting evidence. The aim of this observational study was to assess UTI occurrence in children with prenatal diagnosis of urinary collecting system dilatation without antibiotic prophylaxis.Methods: Between June 2012 and August 2016, we evaluated the incidence of UTI and the clinical and ultrasonography evolution in 407 children with a prenatally diagnosed UTD. All subjects underwent two prenatal ultrasounds scans (USs) at 20 weeks and 30 weeks of gestation and within 1 month of birth. Patients with a confirmed diagnosis of UTD underwent US follow-up at 6, 12 and 24 months of life. According to the UTD classification system stratify risk, after birth UTD were classified into three groups: UTD-P1 (low risk group), UTD-P2 (intermediate risk group), and UTD-P3 (high risk group). Voiding cystourethrogram was performed in all patients who presented a UTI and in those with UTD-P3. No patient underwent CAP.Results: Postnatal US confirmed UTD in 278 out of 428 patients with the following rates: UTD-P1 (126), UTD-P2 (95) and UTD-P3 (57). During postnatal follow-up, 6.83% patients presented a UTI (19 out of 278). Eleven out of 19 had vesicoureteral reflux (VUR), and other four were diagnosed with obstructive uropathy and underwent surgical correction. Five patients presented a UTI reinfection.Conclusion: The occurrence of UTI in patients with urinary collecting system dilatation was low. The recent literature reports an increased selection of multirestistant germs in patients with VUR exposed to CAP. This study constitutes a strong hint that routine continuous antibiotic prophylaxis could be avoided in patients with UTD. [ABSTRACT FROM AUTHOR]- Published
- 2020
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15. Women's choices in non-invasive prenatal testing for aneuploidy screening: results from a single centre prior to introduction in England.
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Sacco, Adalina, Hewitt, Hilary, and Pandya, Pranav
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TRISOMY 18 syndrome ,PRENATAL diagnosis ,CHORIONIC villus sampling ,HIGH-risk pregnancy - Abstract
Objective: To evaluate patient choices and uptake of non-invasive prenatal testing (NIPT) for aneuploidy screening offered in a contingency model as part of routine care.Method: We retrospectively reviewed data for all women with a singleton pregnancy attending for routine first trimester screening over an 18-month period. Women with a 'high-chance' of trisomy 21, 18 or 13 (≥1:150) were offered the choice of no further testing, NIPT or invasive testing, in line with the screening pathway recommended by the UK National Screening Committee.Results: Of 9342 women attending for a first trimester ultrasound scan, 7939 women were included in this study. Of these, 352 had a high-chance screening result for trisomy 21, and 291 (82.7%) opted for NIPT. The proportion of women opting for NIPT decreased as the chance of trisomy 21 increased: uptake was 93.2%, 90.0%, 77.1% and 47.2% for women with a chance of 1:100-150, 1:50-99, 1:10-49 and >1:10, respectively. 516 women (5.5%) accessed primary NIPT screening in the private sector, and 638 women (6.8%) declined any aneuploidy screening or testing.Conclusion: Implementation of NIPT testing in a contingency model has a high uptake in a non-research National Health Service setting; the rate of uptake is related to the combined test risk result. [ABSTRACT FROM AUTHOR]- Published
- 2020
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16. Downgrades: a potential source of moral tension.
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Oerlemans AJ, Feenstra I, Yntema HG, and Boenink M
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- Humans, Morals, Decision Making
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Competing Interests: Competing interests: None declared.
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- 2023
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17. Will an innovative connected AideSmart! app-based multiplex, point-of-care screening strategy for HIV and related coinfections affect timely quality antenatal screening of rural Indian women? Results from a cross-sectional study in India.
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Pai, Nitika Pant, Daher, Jana, Prashanth, H. R., Shetty, Achal, Sahni, Rani Diana, Kannangai, Rajesh, Abraham, Priya, Isaac, Rita, and Pant Pai, Nitika
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PREVENTION of communicable diseases ,DIAGNOSIS of HIV infections ,HIV prevention ,PREVENTION of pregnancy complications ,SEXUALLY transmitted disease diagnosis ,PREVENTION of sexually transmitted diseases ,DIAGNOSIS of syphilis ,SYPHILIS prevention ,VERTICAL transmission (Communicable diseases) ,CLINICAL medicine ,COMMUNICABLE diseases ,COMPARATIVE studies ,MEDICAL databases ,INFORMATION storage & retrieval systems ,RESEARCH methodology ,MEDICAL cooperation ,PREGNANCY complications ,PRENATAL care ,PRENATAL diagnosis ,RESEARCH ,RURAL population ,TRICHOMONIASIS ,EVALUATION research ,CROSS-sectional method ,MOBILE apps ,MIXED infections ,PREVENTION - Abstract
Objectives: In rural pregnant Indian women, multiple missed antenatal screening opportunities due to inadequate public health facility-based screening result in undiagnosed HIV and sexually transmitted bloodborne infections (STBBIs) and conditions (anaemia). Untreated infections complicate pregnancy management, precipitate adverse outcomes and risk mother-to-child transmission. Additionally, a shortage of trained doctors, rural women's preference for home delivery and health illiteracy affect health service delivery. To address these issues, we developed AideSmart!, an innovative, app-based, cloud-connected, rapid screening strategy that offers multiplex screening for STBBIs and anaemia at the point of care. It offers connectivity, integration, expedited communications and linkages to clinical care throughout pregnancy.Methods: In a cross-sectional study, we evaluated the AideSmart! strategy for feasibility, acceptability, preference and impact. We trained 15 healthcare professionals (HCPs) to offer the AideSmart! strategy to 510 pregnant women presenting for care to outreach rural service units of Christian Medical College, Vellore, India.Results: With the AideSmart! screening strategy, we recorded an acceptability of 100% (510/510), feasibility (completion rate) of 91.6% (466/510) and preference of 73%. We detected 239 infections/conditions (239/510, 46.8%) at the point-of-care, of which 168 (168/239; 70%) were lab confirmed, staged and treated rapidly. Of the 168 confirmed infections/conditions, 127 were anaemia, 11 Trichomonas and 30 hepatitis B virus (HBV) (25 resolved naturally, 5 active infections). Four infants (4/5; 80%) were prophylaxed for HBV and were declared disease-free at 9 months. Recruited participants were young; mean age was 24 years (range: 17-40) and 74% (376/510) were in their second trimester. Furthermore, 95% of the participants were retained throughout their pregnancy.Conclusion: The AideSmart! strategy was deemed feasible to operationalise by HCPs. It was accepted and preferred by participants, resulting in timely screening and treatment of HIV/STIs and anaemia, preventing mother-to-child transmission. The strategy could be reverse-innovated to any context to maximise its health impact. [ABSTRACT FROM AUTHOR]- Published
- 2019
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18. Omphalocele: from diagnosis to growth and development at 2 years of age.
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Hijkoop, Annelieke, Peters, Nina C. J., Lechner, Rosan L., van Bever, Yolande, van Gils-Frijters, Annabel P. J. M., Tibboel, Dick, Wijnen, René M. H., Cohen-Overbeek, Titia E., and IJsselstijn, Hanneke
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UMBILICAL hernia ,GASTROSCHISIS ,POLYHYDRAMNIOS ,TRISOMY 18 syndrome ,VENTRAL hernia ,INFANT death ,CHILD development ,DEVELOPMENTAL disabilities ,PRENATAL diagnosis ,PROGNOSIS ,QUESTIONNAIRES ,SELF-report inventories ,SYMPTOMS ,SEVERITY of illness index ,DISEASE complications - Abstract
Objectives: To compare the prenatal frame of reference of omphalocele (ie, survival of fetuses) with that after birth (ie, survival of liveborn neonates), and to assess physical growth and neurodevelopment in children with minor or giant omphalocele up to 2 years of age.Design: We included fetuses and neonates diagnosed in 2000-2012. Physical growth (SD scores, SDS) and mental and motor development at 12 and 24 months were analysed using general linear models, and outcomes were compared with reference norms. Giant omphalocele was defined as defect ≥5 cm, with liver protruding.Results: We included 145 fetuses and neonates. Of 126 (87%) who were diagnosed prenatally, 50 (40%) were liveborn and 35 (28%) survived at least 2 years. Nineteen (13%) neonates were diagnosed after birth. Of the 69 liveborn neonates, 52 (75%) survived and 42 children (81% of survivors) were followed longitudinally. At 24 months, mean (95% CI) height and weight SDS were significantly below 0 in both minor (height: -0.57 (-1.05 to -0.09); weight: -0.86 (-1.35 to -0.37)) and giant omphalocele (height: -1.32 (-2.10 to -0.54); weight: -1.58 (-2.37 to -0.79)). Mental development was comparable with reference norms in both groups. Motor function delay was found significantly more often in children with giant omphalocele (82%) than in those with minor omphalocele (21%, P=0.002).Conclusions: The prenatal and postnatal frames of reference of omphalocele differ considerably; a multidisciplinary approach in parental counselling is recommended. As many children with giant omphalocele had delayed motor development, we recommend close monitoring of these children and early referral to physical therapy. [ABSTRACT FROM AUTHOR]- Published
- 2019
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19. Non-invasive prenatal testing of pregnancies at risk for phenylketonuria.
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Huikun Duan, Ning Liu, Zhenhua Zhao, Yiqian Liu, Yin Wang, Zhifeng Li, Mengnan Xu, Cram, David S., and Xiangdong Kong
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PRENATAL diagnosis ,PREGNANCY tests ,CHORIONIC villus sampling ,INVASIVE diagnosis - Published
- 2019
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20. Preserving women's reproductive autonomy while promoting the rights of people with disabilities?: the case of Heidi Crowter and Maire Lea-Wilson in the light of NIPT debates in England, France and Germany.
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Perrot A and Horn R
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- Pregnancy, Female, Humans, Genetic Testing, Prenatal Diagnosis, England, France, Germany, Down Syndrome diagnosis, Down Syndrome genetics, Disabled Persons
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On July 2021, the UK High Court of Justice heard the Case CO/2066/2020 on the application of Heidi Crowter who lives with Down's syndrome, and Máire Lea-Wilson whose son Aidan has Down's syndrome. Crowter and Lea-Wilson, with the support of the disability rights campaign, 'Don't Screen Us Out', have been taking legal action against the Secretary of State for Health and Social Care (the UK Government) for a review of the 1967 Abortion Act: the removal of section 1(1)(d) making termination of pregnancy lawful for 'severe' fetal indications detected after 24 weeks' gestation. On 23 September 2021, the High Court dismissed the claim. This action came at a time when non-invasive prenatal testing (NIPT) was introduced into the NHS England Fetal Anomaly Screening Programme for the trisomies 21, 13 and 18. The implementation of NIPT has been heavily criticised, in particular by 'Don't Screen Us Out' campaigners, for increasing fetal selection and discrimination of people living with disabilities. The case of Crowter and Lea-Wilson echoes debates in other European countries such as in France and Germany, where the introduction of NIPT in the public healthcare system has provoked equally vehement public reactions and discussions. The comparison between these three countries allows contextualising the public discourses around NIPT and the ground for termination of pregnancy in relation to different socio-cultural and political contexts. We examine how each country, and particularly England, deals with the conflict between the principles of promoting the rights of people living with disabilities and preserving women's reproductive autonomy., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY. Published by BMJ.)
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- 2023
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21. Interventional treatments and risk factors in patients born with hypoplastic left heart syndrome in England and Wales from 2000 to 2015.
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Rogers, Libby, Pagel, Christina, Sullivan, Ian D., Mustafa, Muhammed, Tsang, Victor, Utley, Martin, Bull, Catherine, Franklin, Rodney C., and Brown, Kate L.
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HYPOPLASTIC left heart syndrome ,CONGENITAL heart disease ,CARDIAC patients ,CARDIAC surgery ,PRENATAL diagnosis ,THERAPEUTICS ,DISEASE risk factors ,COMPARATIVE studies ,FORECASTING ,LONGITUDINAL method ,RESEARCH methodology ,MEDICAL cooperation ,RESEARCH ,RISK assessment ,SURVIVAL ,EVALUATION research ,DISEASE incidence ,RETROSPECTIVE studies ,HOSPITAL mortality - Abstract
Objective: To describe the long-term outcomes, treatment pathways and risk factors for patients diagnosed with hypoplastic left heart syndrome (HLHS) in England and Wales.Methods: The UK's national audit database captures every procedure undertaken for congenital heart disease and updated life status for resident patients in England and Wales. Patients with HLHS born between 2000 and 2015 were identified using codes from the International Paediatric and Congenital Cardiac Code.Results: There were 976 patients with HLHS. Of these, 9.6% had a prepathway intervention, 89.5% underwent a traditional pathway of staged palliation and 6.4% of infants underwent a hybrid pathway. Patients undergoing prepathway procedures or the hybrid pathway were more complex, exhibiting higher rates of prematurity and acquired comorbidity. Prepathway intervention was associated with the highest in-hospital mortality (34.0%).44.6% of patients had an off-pathway procedure after their primary procedure, most frequently stenting or dilation of residual or recoarctation and most commonly occurring between stage 1 and stage 2.The survival rate at 1 year and 5 years was 60.7% (95% CI 57.5 to 63.7) and 56.3% (95% CI 53.0 to 59.5), respectively. Patients with an antenatal diagnosis (multivariable HR (MHR) 1.63 (95% CI 1.12 to 2.38)), low weight (<2.5 kg) (MHR 1.49 (95% CI 1.05 to 2.11)) or the presence of an acquired comorbidity (MHR 2.04 (95% CI 1.30 to 3.19)) were less likely to survive.Conclusion: Treatment pathways among patients with HLHS are complex and variable. It is essential that the long-term outcomes of conditions like HLHS that require serial interventions are studied to provide a fuller picture and to inform quality assurance and improvement. [ABSTRACT FROM AUTHOR]- Published
- 2018
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22. Ethics of routine: a critical analysis of the concept of 'routinisation' in prenatal screening.
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Kater-Kuipers, Adriana, de Beaufort, Inez D., Galjaard, Robert-Jan H., and Bunnik, Eline M.
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PRENATAL diagnosis ,FIRST trimester of pregnancy ,ROUTINE diagnostic tests ,FETAL abnormalities ,HUMAN chromosome abnormality diagnosis ,DOWN syndrome ,DIAGNOSIS - Abstract
In the debate surrounding the introduction of non-invasive prenatal testing (NIPT) in prenatal screening programmes, the concept of routinisation is often used to refer to concerns and potential negative consequences of the test. A literature analysis shows that routinisation has many different meanings, which can be distinguished in three major versions of the concept. Each of these versions comprises several inter-related fears and concerns regarding prenatal screening and particularly regarding NIPT in three areas: (1) informed choice, (2) freedom to choose and (3) consequences for people with a disability. Three of the strongest arguments raised under the flag of routinisation are assessed for their validity: the threat that NIPT poses to informed choice, the potential increase in uptake of first-trimester prenatal screening and its consequences for social pressure to participate in screening or terminate affected pregnancies, and the negative consequences for disabled people. These routinisation arguments lack empirical or normative ground. However, the results of this analysis do not imply that no attention should be paid to possible problems surrounding the introduction of NIPT. At least two problems remain and should be addressed: there should be an ongoing debate about the requirements of informed choice, particularly related to an expanded scope of prenatal screening. Also, reproductive autonomy can only be achieved when expecting parents' options are variegated, real and valuable, so that they can continue to choose whether or not to screen or to terminate a pregnancy. [ABSTRACT FROM AUTHOR]
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- 2018
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23. Fetal microcephaly.
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Nawathe, Aamod, Doherty, Jane, and Pandya, Pranav
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EPILEPSY risk factors ,DEVELOPMENTAL disabilities ,AMNIOCENTESIS ,BLOOD testing ,COUNSELING ,DELIVERY (Obstetrics) ,GESTATIONAL age ,MAGNETIC resonance imaging ,POSTNATAL care ,MICROCEPHALY ,PRENATAL diagnosis ,ULTRASONIC imaging ,VAGINA ,GENETIC testing ,SEVERITY of illness index ,FETUS ,PREGNANCY ,DIAGNOSIS ,DISEASE risk factors ,DISABILITIES - Published
- 2018
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24. Imaging features and prognostic factors in fetal and postnatal torcular dural sinus malformations, part I: review of experience at Boston Children's Hospital.
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Yang, Edward, Storey, Armide, Olson, Heather E., Soul, Janet, Estroff, Judy A., Trenor, Cameron C., Cooper, Benjamin K., Smith, Edward R., and Orbach, Darren B.
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ARTERIOVENOUS fistula ,BIOMARKERS ,DIAGNOSTIC imaging ,BLOOD-vessel abnormalities ,PEDIATRICS ,PRENATAL diagnosis ,SCARS ,THROMBOSIS ,CRANIAL sinuses ,PROGNOSIS ,DIAGNOSIS - Abstract
Background Even for the most common dural sinus malformation (DSM), the torcular DSM (tDSM), generalizable statements about etiology and prognosis are difficult because neurosurgeons/neuroradiologists and obstetrical imagers have focused on different patient age groups, have reported different outcomes, and have offered differing pathophysiologic explanations. Objective To examine the imaging features and outcomes of a local cohort of tDSMs across fetal-neonatal life for commonalities. Methods Review of imaging and clinical outcome for a local cohort of 12 tDSM patients (9 fetal, 3 postnatal). results All 12 tDSMs had similar imaging characteristics, including enlargement of the torcular and intraluminal thrombus early on, later evolving to peripheral scar tissue after treatment or spontaneous regression. Spontaneous decrease in size of the tDSM was observed in 6 prenatal and 1 postnatal case, and this decrease appeared to be irreversible once it occurred. One of 9 prenatal tDSMs was demonstrated to have arteriovenous fistulae in utero, while 2 of 3 postnatal diagnoses had arteriovenous fisutlae. All 6 prenatal tDSM diagnoses followed to term and all 3 postnatal diagnoses had a grossly normal neurologic outcome after a median of 12 months of age. Conclusions Prenatal and postnatal tDSMs have overlapping imaging features suggesting a common etiology, and involution of a tDSM is a key imaging biomarker for a favorable outcome. While there is reason for concern with postnatally diagnosed tDSMs, good outcomes may still be achieved across the fetal-neonatal age spectrum of presentations. These findings are generalized in part II of this article. [ABSTRACT FROM AUTHOR]
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- 2018
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25. Peripartum cardiomyopathy: diagnosis and management.
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Jackson, Alice M., Dalzell, Jonathan R., Walker, Niki L., Coats, Caroline J., Jhund, Pardeep S., and Petrie, Mark C.
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PERIPARTUM cardiomyopathy ,HEART failure ,CONGENITAL disorders ,HEART diseases ,HYPERTENSION ,ANTICOAGULANTS ,BROMOCRIPTINE ,TREATMENT of cardiomyopathies ,CARDIOTONIC agents ,HORMONE antagonists ,CARDIAC pacing ,CHILDBIRTH ,CARDIOVASCULAR diseases in pregnancy ,CONTRACEPTION ,CONVALESCENCE ,DEFIBRILLATORS ,DELIVERY (Obstetrics) ,DIAGNOSIS ,FORECASTING ,HEART transplantation ,MEDICAL errors ,MEDICAL prescriptions ,CARDIOMYOPATHIES ,PRECONCEPTION care ,PRENATAL diagnosis ,TREATMENT effectiveness ,HEART assist devices ,PUERPERAL disorders ,THERAPEUTICS - Published
- 2018
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26. A systematic review and meta-analysis of studies evaluating the performance and operational characteristics of dual point-of-care tests for HIV and syphilis.
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Gliddon, Harriet D., Peeling, Rosanna W., Kamb, Mary L., Toskin, Igor, Wi, Teodora E., and Taylor, Melanie M.
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COMMUNICABLE disease diagnosis ,PREVENTION of communicable diseases ,DIAGNOSIS of HIV infections ,HIV infection transmission ,CONGENITAL, hereditary, & infantile syphilis ,PREGNANCY complications ,PREVENTION of pregnancy complications ,DIAGNOSIS of syphilis ,SYPHILIS ,VERTICAL transmission (Communicable diseases) ,CLINICAL medicine ,INFORMATION storage & retrieval systems ,MEDICAL databases ,EVALUATION of medical care ,META-analysis ,PREGNANCY ,PRENATAL diagnosis ,SYSTEMATIC reviews ,PREVENTION ,DIAGNOSIS ,INFECTIOUS disease transmission - Abstract
Background: Mother-to-child transmission (MTCT) of syphilis and HIV continue to be important yet preventable causes of perinatal and infant morbidity and mortality.Objectives: To systematically review, critically appraise and perform a meta-analysis to evaluate the operational characteristics of dual rapid diagnostic tests (RDTs) for HIV/syphilis and evaluate whether they are cost effective, acceptable and easy to use.Design: Systematic review and meta-analysis.Data Sources: We searched seven electronic bibliographic databases from 2012 to December 2016 with no language restrictions. Search keywords included HIV, syphilis and diagnosis.Review Methods: We included studies that evaluated the operational characteristics of dual HIV/syphilis RDTs. Outcomes included diagnostic test accuracy, cost effectiveness, ease of use and interpretation and acceptability. All studies were assessed against quality criteria and assessed for risk of bias.Results: Of 1914 identified papers, 18 were included for the meta-analysis of diagnostic accuracy for HIV and syphilis. All diagnostic accuracy evaluation studies showed a very high sensitivity and specificity for HIV and a lower, yet adequate, sensitivity and specificity for syphilis, with some variation among types of test. Dual screening for HIV and syphilis was more cost effective than single rapid tests for HIV and syphilis and prevented more adverse pregnancy outcomes. Qualitative data suggested dual RDTs were highly acceptable to clients, who cited time to result, cost and the requirement of a single finger prick as important characteristics of dual RDTs.Conclusion: The results of this systematic review and meta-analysis can be used by policy-makers and national programme managers who are considering implementing dual RDTs for HIV and syphilis.Trial Registration Number: PROSPERO 2016:CRD42016049168. [ABSTRACT FROM AUTHOR]- Published
- 2017
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27. Organisation of care for pregnancy in patients with congenital heart disease.
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Roos-Hesselink, Jolien W., Budts, Werner, Walker, Fiona, De Backer, Julie F. A., Swan, Lorna, Stones, William, Kranke, Peter, Sliwa-Hahnle, Karen, and Johnson, Mark R.
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CONGENITAL heart disease ,PREGNANCY complications ,HEALTH counseling ,HEART disease risk factors ,CARDIAC patients ,CONGENITAL heart disease diagnosis ,INFERTILITY treatment ,PREVENTION of pregnancy complications ,BIRTH rate ,COUNSELING ,DELIVERY (Obstetrics) ,FERTILITY ,INFERTILITY ,INTEGRATED health care delivery ,MATERNAL health services ,MATERNAL mortality ,PRENATAL diagnosis ,RISK assessment ,GENETIC testing ,TREATMENT effectiveness ,PREDICTIVE tests ,ORGANIZATIONAL goals ,DIAGNOSIS ,THERAPEUTICS - Abstract
Improvements in surgery have resulted in more women with repaired congenital heart disease (CHD) surviving to adulthood. Women with CHD, who wish to embark on pregnancy require prepregnancy counselling. This consultation should cover several issues such as the long-term prognosis of the mother, fertility and miscarriage rates, recurrence risk of CHD in the baby, drug therapy during pregnancy, estimated maternal risk and outcome, expected fetal outcomes and plans for pregnancy. Prenatal genetic testing is available for those patients with an identified genetic defect using pregestational diagnosis or prenatal diagnosis chorionic villus sampling or amniocentesis. Centralisation of care is needed for high-risk patients. Finally, currently there are no recommendations addressing the issue of the delivery. It is crucial that a dedicated plan for delivery should be available for all cardiac patients. The maternal mortality in low-income to middle-income countries is 14 times higher than in high-income countries and needs additional aspects and dedicated care. [ABSTRACT FROM AUTHOR]
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- 2017
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28. Preoperative sonographic prediction of intra-abdominal adhesions using sliding sign at repeat caesarean section at the University of Maiduguri Teaching Hospital, Nigeria: a prospective observational study
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Mohammed Bukar, Asta Umar Mana, and Nasiru Ikunaiye
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fetal medicine ,prenatal diagnosis ,Cesarean Section ,Nigeria ,General Medicine ,ultrasonography ,Pregnancy ,Obstetrics and Gynaecology ,Abdomen ,Preoperative Care ,Humans ,Medicine ,Female ,Cesarean Section, Repeat ,Prospective Studies ,Hospitals, Teaching - Abstract
ObjectiveTo determine if the presence or absence of sonographic sliding sign preoperatively is a good predictor of the presence and type of intra-abdominal adhesions; and to determine the time taken to demonstrate this sign.DesignA prospective, observational, triple-blind study using tests of diagnostic accuracy.SettingSingle-centre tertiary health institution in north-east Nigeria.Participants67 women in the third trimester scheduled for repeat elective caesarean sections (CS) had transabdominal sonography to determine the absence or presence and degree of sliding sign. The time taken to make these decisions were noted. Surgeons blinded to the ultrasound findings graded adhesions intraoperatively and comparison between sonographic and intraoperative findings made. Women who were scheduled for emergency CS were excluded.Main outcome measuresAccuracy of preoperative ultrasound to determine no/mild, moderate and severe adhesions. Secondary outcomes were interobserver correlations and time taken to determine sliding.ResultsWhen classified as adhesion and no adhesion, the sliding sign demonstrated a sensitivity of 100.00% (CI95 85.18% to 100.00%), specificity of 100.00% (CI95 92.13% to 100.00%). In predicting presence of moderate intra-abdominal adhesions, a sensitivity of 65.0% (CI95 40.78% to 84.61%) and specificity of 82.98% (CI95 69.19% to 92.35%) was found. For predicting severe intra-abdominal adhesions, it had a sensitivity of 25.00% (CI95 0.63% to 80.59%) and specificity of 98.41 (CI95 91.47 to 99.96). Disease prevalence for mild, moderate and severe adhesions was 33.82% (CI95 22.79% to 46.32%), 29.85% (CI95 19.28% to 42.27%) and 5.97% (CI95 1.65% to 14.59%), respectively. Interobserver Cohen’s kappa coefficient and PPA were 0.58 (CI95 0.39 to 0.76) and 58.82 (CI95 52.82 to 64.82), respectively. The mean duration to determine sliding sign was 7.56±2.86 s.ConclusionThis study supports the role of transabdominal sliding sign in preoperative prediction of intra-abdominal adhesions in women with previous CS without significant increase in sonography duration. This information can encourage planning for CS by ensuring that surgeons of appropriate seniority are deployed to undertake anticipated complex operations.
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- 2022
29. The natural history of prenatally diagnosed congenital cystic lung lesions: long-term follow-up of 119 cases.
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Cook, James, Chitty, Lyn S., De Coppi, Paolo, Ashworth, Michael, and Wallis, Colin
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PRENATAL diagnosis ,CONGENITAL cystic adenomatoid malformation of lungs ,LUNG abnormalities ,COMPUTED tomography ,LUNG diseases ,AGE distribution ,FETAL ultrasonic imaging ,LONGITUDINAL method ,PNEUMOTHORAX ,PROGNOSIS ,RESEARCH funding ,RESPIRATORY infections ,RESPIRATORY organ abnormalities ,DISEASE complications - Abstract
Background: A paucity of evidence regarding the natural history of congenital pulmonary airway malformations (CPAMs) and pulmonary sequestration (PS) has resulted in a divergence in management strategy of asymptomatic cases.Methods: We describe the long-term clinical course of 119 children diagnosed with these lesions treated at Great Ormond Street Hospital (GOSH). Cases were identified via the GOSH patient database. Study entry required the identification of a cystic lung lesion on prenatal ultrasound and confirmation of CPAM/PS on postnatal CT imaging. Patients followed up for at least 5 years were included.Results: 51 (43%) patients were managed surgically; 8 (6.7%) as an emergency during the neonatal period, 6 (5.1%) electively due to concerning features on CT scan, 20 (17%) following medical advice, 1 (0.8%) following a severe respiratory infection and in 5 (4.2%) the indication was unclear. The indication in 11 (9.2%) was recurrent respiratory infection and median age at surgery was 1.6 years (range 0.4 to 4.6 years). No cases of malignancy were identified on histological examination of resected lesions. 68 (57%) patients were managed conservatively for a median period of 9.9 years (range 5.2 years to 18 years). Seven (10%) were discharged, one was followed-up elsewhere (1.5%) and eight (11%) were lost to follow-up. In four patients (5.9%), the lesion resolved spontaneously. 52 (76%) continue to be followed-up and remain asymptomatic.Conclusions: This is one of the largest case series documenting the natural history of CPAMs and PS following a prenatal diagnosis and demonstrates that conservative management is a reasonable option in selected cases. [ABSTRACT FROM AUTHOR]- Published
- 2017
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30. Ethnic and socioeconomic variation in incidence of congenital heart defects.
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Knowles, Rachel L., Ridout, Deborah, Crowe, Sonya, Bull, Catherine, Wray, Jo, Tregay, Jenifer, Franklin, Rodney C., Barron, David J., Cunningham, David, Parslow, Roger C., and Brown, Katherine L.
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CONGENITAL heart disease ,CONGENITAL heart disease diagnosis ,ETHNIC differences ,SOCIOECONOMIC factors ,BLACK people ,DISEASES ,GENETICS ,STATISTICS on Black people ,POVERTY areas ,ASIANS ,AUDITING ,COMPARATIVE studies ,INTENSIVE care units ,RESEARCH methodology ,MEDICAL cooperation ,PEDIATRICS ,PRENATAL diagnosis ,RESEARCH ,EVALUATION research ,DISEASE incidence ,THERAPEUTICS - Abstract
Introduction: Ethnic differences in the birth prevalence of congenital heart defects (CHDs) have been reported; however, studies of the contemporary UK population are lacking. We investigated ethnic variations in incidence of serious CHDs requiring cardiac intervention before 1 year of age.Methods: All infants who had a cardiac intervention in England and Wales between 1 January 2005 and 31 December 2010 were identified in the national congenital heart disease surgical audit and matched with paediatric intensive care admission records to create linked individual child records. Agreement in reporting of ethnic group by each audit was evaluated. For infants born 1 January 2006 to 31 December 2009, we calculated incidence rate ratios (IRRs) for CHDs by ethnicity and investigated age at intervention, antenatal diagnosis and area deprivation.Results: We identified 5350 infants (2940 (55.0%) boys). Overall CHD incidence was significantly higher in Asian and Black ethnic groups compared with the White reference population (incidence rate ratios (IRR) (95% CIs): Asian 1.5 (1.4 to 1.7); Black 1.4 (1.3 to 1.6)); incidence of specific CHDs varied by ethnicity. No significant differences in age at intervention or antenatal diagnosis rates were identified but affected children from non-White ethnic groups were more likely to be living in deprived areas than White children.Conclusions: Significant ethnic variations exist in the incidence of CHDs, including for specific defects with high infant mortality. It is essential that healthcare provision mitigates ethnic disparity, including through timely identification of CHDs at screening, supporting parental choice and effective interventions. Future research should explore the factors underlying ethnic variation and impact on longer-term outcomes. [ABSTRACT FROM AUTHOR]- Published
- 2017
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31. Why parents should not be told the sex of their fetus.
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Browne, Tamara Kayali
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PRENATAL diagnosis ,DIAGNOSTIC sex determination ,SEX preselection ,SEX chromosomes ,GENDER essentialism ,ABORTION ,CONFLICT (Psychology) ,GENDER identity ,HEALTH attitudes ,HUMAN reproduction ,MOTIVATION (Psychology) ,PSYCHOLOGY of parents ,SEXISM ,DISCLOSURE ,ACCESS to information - Abstract
A new technique called non-invasive prenatal testing (NIPT) has been developed, which can detect a range of genetic and chromosomal diseases, as well as fetal sex earlier, more easily and more reliably. NIPT, therefore, potentially expands the market for sex determination and sex selective abortion. This paper argues that both practices should be prevented by not including fetal sex in prenatal test reports. This is because there is a discrepancy between what parents are concerned with (gender) and what the prenatal test can provide (sex). The paper first presents arguments, which indicate a difference between sex and gender before presenting parental motivations for sex selection and sex determination to show that parents are not concerned with their child's sex chromosomes, or even their genitalia, but the gender role that their child will espouse. That, however, is not something that a prenatal test can provide. We are thus left with a situation in which what parents are told, and what they think they are being told, are two different things. In other words, as the conflation of sex with gender is implicit in the disclosure of fetal sex, it may be more accurate to refer to it as misinformation. This misinformation promotes sexism via gender essentialism, which is neither in the interests of the future child nor society. [ABSTRACT FROM AUTHOR]
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- 2017
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32. Universal antenatal screening for group B streptococcus: more harm than good?
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Patterson, Jacoby, Freeman, Karoline, Johnson, Samantha Ann, Fraser, Hannah, Brown, Colin Stewart, Uthman, Olalekan A., Bee Tan, Robinson, Esther R., McCarthy, Noel Denis, Clarke, Aileen, Marshall, John, Visintin, Cristina, Mackie, Anne, and Taylor-Phillips, Sian
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STREPTOCOCCAL disease diagnosis ,STREPTOCOCCAL disease treatment ,NEONATAL sepsis ,ANAPHYLAXIS ,DISEASES ,DRUG resistance in microorganisms ,MEDICAL care use ,MEDICAL protocols ,PRENATAL diagnosis ,PREVENTIVE health services ,RISK assessment ,STREPTOCOCCAL diseases ,GUT microbiome ,HARM reduction ,HUMAN services programs ,ANTIBIOTIC prophylaxis ,CHILDREN ,DISEASE risk factors - Published
- 2019
33. Epidemiology of congenital cerebral anomalies in Europe
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Kari Klungsøyr, Ingeborg Barisic, Olatz Mokoroa, Diana Wellesley, Martin Haeusler, Karen Luyt, Catherine Lynch, Monica Lanzoni, Ester Garne, Bruno Schaub, Mary O'Mahony, Christine Verellen-Dumoulin, Anna Pierini, Elizabeth S Draper, Florence Rouget, Awi Wiesel, Clara Cavero-Carbonell, Anke Rissmann, Natalia Zymak-Zakutnia, Jennifer J Kurinczuk, David Tucker, Miriam Gatt, Amanda J. Neville, Vera Nelen, Joan K Morris, Judith Rankin, Hanitra Randrianaivo, Natalie Lelong, Paula Braz, Jorieke E. H. Bergman, Marie-Claude Addor, and Reproductive Origins of Adult Health and Disease (ROAHD)
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medicine.medical_specialty ,Epidemiology ,Population ,Prevalence ,congenital abnorm ,epidemiology ,Prenatal diagnosis ,Congenital Abnorm ,Congenital Abnormalities ,03 medical and health sciences ,0302 clinical medicine ,EUROCAT ,International Classification of Diseases ,Pregnancy ,medicine ,Humans ,030212 general & internal medicine ,Registries ,education ,Child ,Fetal Death ,education.field_of_study ,Fetus ,Obstetrics ,business.industry ,Incidence (epidemiology) ,RENAC ,Infant, Newborn ,Infant ,Stillbirth ,Observação em Saúde e Vigilância ,Estados de Saúde e de Doença ,medicine.disease ,Europe ,Child, Preschool ,Population Surveillance ,Pediatrics, Perinatology and Child Health ,Gestation ,Female ,business ,Anomalias Congénitas ,030217 neurology & neurosurgery - Abstract
ObjectivesTo describe the epidemiology and geographical differences in prevalence of congenital cerebral anomalies in Europe.Design and settingCongenital cerebral anomalies (International Classification of Diseases, 10th Revision code Q04) recorded in 29 population-based EUROCAT registries conducting surveillance of 1.7 million births per annum (29% of all European births).ParticipantsAll birth outcomes (live births, fetal deaths from 20 weeks gestation and terminations of pregnancy after prenatal diagnosis of a fetal anomaly (TOPFA)) from 2005 to 2014.Main outcome measuresPrevalence, proportion of associated non-cerebral anomalies, prenatal detection rate.Results4927 cases with congenital cerebral anomalies were identified; a prevalence (adjusted for under-reporting) of 9.8 (95% CI: 8.5 to 11.2) per 10 000 births. There was a sixfold difference in prevalence across the registries. Registries with higher proportions of prenatal diagnoses had higher prevalence. Overall, 55% of all cases were liveborn, 3% were fetal deaths and 41% resulted in TOPFA. Forty-eight per cent of all cases were an isolated cerebral anomaly, 25% had associated non-cerebral anomalies and 27% were chromosomal or part of a syndrome (genetic or teratogenic). The prevalence excluding genetic or chromosomal conditions increased by 2.4% per annum (95% CI: 1.3% to 3.5%), with the increases occurring only for congenital malformations of the corpus callosum (3.0% per annum) and ‘other reduction deformities of the brain’ (2.8% per annum).ConclusionsOnly half of the cases were isolated cerebral anomalies. Improved prenatal and postnatal diagnosis may account for the increase in prevalence of congenital cerebral anomalies from 2005 to 2014. However, major differences in prevalence remain between regions.
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- 2019
34. Prognostic accuracy of antenatal Doppler ultrasound for adverse perinatal outcomes in low-income and middle-income countries: a systematic review
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Aris T. Papageorghiou, Simelina Heuving, Josaphat Byamugisha, Marcus J. Rijken, Diederick E. Grobbee, Sam Ali, Michael Kawooya, and Kerstin Klipstein-Grobusch
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medicine.medical_specialty ,Middle Cerebral Artery ,fetal medicine ,Neonatal intensive care unit ,Prenatal diagnosis ,Cochrane Library ,Inferior vena cava ,Ultrasonography, Prenatal ,Predictive Value of Tests ,Pregnancy ,medicine.artery ,Obstetrics and Gynaecology ,Fetal distress ,Medicine ,Humans ,Developing Countries ,prenatal diagnosis ,business.industry ,Obstetrics ,ultrasound ,Infant, Newborn ,Pregnancy Outcome ,Umbilical artery ,Ultrasonography, Doppler ,General Medicine ,ultrasonography ,medicine.disease ,Prognosis ,Low birth weight ,medicine.vein ,Pulsatile Flow ,Female ,medicine.symptom ,business ,Ductus venosus - Abstract
ObjectivesThis systematic review examined available literature on the prognostic accuracy of Doppler ultrasound for adverse perinatal outcomes in low/middle-income countries (LMIC).DesignWe searched PubMed, Embase, Cochrane Library and Scopus from inception to April 2020.SettingObservational or interventional studies from LMICs.ParticipantsSingleton pregnancies of any risk profile.InterventionsUmbilical artery (UA), middle cerebral artery (MCA), cerebroplacental ratio (CPR), uterine artery (UtA), fetal descending aorta (FDA), ductus venosus, umbilical vein and inferior vena cava.Primary and secondary outcome measuresPerinatal death, stillbirth, neonatal death, expedited delivery for fetal distress, meconium-stained amniotic fluid, low birth weight, fetal growth restriction, admission to neonatal intensive care unit, neonatal acidosis, Apgar scores, preterm birth, fetal anaemia, respiratory distress syndrome, length of hospital stay, birth asphyxia and composite adverse perinatal outcomes (CAPO).ResultsWe identified 2825 records, and 30 (including 4977 women) from Africa (40.0%, n=12), Asia (56.7%, n=17) and South America (3.3%, n=01) were included. Many individual studies reported associations and promising predictive values of UA Doppler for various adverse perinatal outcomes mostly in high-risk pregnancies, and moderate to high predictive values of MCA, CPR and UtA Dopplers for CAPO. A few studies suggested that the MCA and FDA may be potent predictors of fetal anaemia. No randomised clinical trial (RCT) was found. Most studies were of suboptimal quality, poorly powered and characterised by wide variations in outcome classifications, the timing for the Doppler tests and study populations.ConclusionLocal evidence to guide how antenatal Doppler ultrasound should be used in LMIC is lacking. Well-designed studies, preferably RCTs, are required. Standardisation of practice and classification of perinatal outcomes across countries, following the international standards, is imperative.PROSPERO registration numberCRD42019128546
- Published
- 2021
35. Urinary 8-hydroxy-2′-deoxyguanosine levels and small-for-gestational age infants: a prospective cohort study from the Japan Environment and Children’s Study
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Akiko Sato, Hyo Kyozuka, Kosei Shinoki, Tsuyoshi Murata, Akiko Yamaguchi, Yuta Endo, Aya Kanno, Koichi Hashimoto, Shun Yasuda, Keiya Fujimori, Seiji Yasumura, Hidekazu Nishigori, Mitsuaki Hosoya, Toma Fukuda, and Yuka Ogata
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Percentile ,medicine.medical_specialty ,fetal medicine ,Gestational Age ,Logistic regression ,Cohort Studies ,Japan ,Pregnancy ,Obstetrics and Gynaecology ,Medicine ,Humans ,Prospective Studies ,Prospective cohort study ,Child ,maternal medicine ,prenatal diagnosis ,Receiver operating characteristic ,business.industry ,Obstetrics ,Incidence (epidemiology) ,Infant, Newborn ,General Medicine ,Odds ratio ,medicine.disease ,Quartile ,8-Hydroxy-2'-Deoxyguanosine ,Infant, Small for Gestational Age ,Small for gestational age ,Female ,epidemiology ,business - Abstract
ObjectivesTo evaluate the association between the urinary 8-hydroxy-2′-deoxyguanosine (U8-OHdG) levels and the incidence of small-for-gestational age (SGA) infants and to assess the utility of U8-OHdG as a biomarker to predict the incidence of SGA infants.DesignProspective cohort study.SettingThe Japan Environment and Children’s Study.ParticipantsData of participants enrolled in the Japan Environment and Children’s Study, a nationwide birth cohort study, between 2011 and 2014 were analysed; 104 062 fetal records were analysed. Data of women with singleton pregnancies ≥22 weeks of gestation were analysed.Primary and secondary outcome measuresU8-OHdG levels were assessed using liquid chromatography-tandem mass spectrometry. Participants were categorised into the following three groups according to the quartile of the distribution of U8-OHdG: low U8-OHdG (2.95 ng/mgCre) groups. Additionally, participants in the 90th percentile for U8-OHdG levels were analysed. Odds ratios (ORs) for SGA infants (ResultsData of 80 212 participants were analysed. The adjusted ORs for SGA infants (ConclusionsElevated U8-OHdG levels were associated with an increased incidence of SGA infants. However, this parameter would not be a useful screening tool for predicting SGA infants owing to its low sensitivity and specificity.
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- 2021
36. Seroprevalence of anti-SARS-CoV-2 antibodies in women attending antenatal care in eastern Ethiopia: a facility-based surveillance
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Joseph Oundo, Jag Scott, Lemma Demissie Regassa, Yadeta Dessie, Lola Madrid, Zelalem Teklemariam, and Nega Assefa
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protocols & guidelines ,Referral ,Epidemiology ,Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) ,Convenience sample ,Antibodies, Viral ,Pregnancy ,Seroepidemiologic Studies ,District hospital ,Humans ,Seroprevalence ,Infection control ,Medicine ,Multivariable model ,prenatal diagnosis ,biology ,SARS-CoV-2 ,business.industry ,COVID-19 ,Prenatal Care ,health policy ,General Medicine ,Hospitals, District ,infection control ,biology.protein ,Female ,Ethiopia ,Antibody ,business ,Demography - Abstract
ObjectiveWe conducted serosurveillance of anti-SARS-CoV-2 antibodies among pregnant women attending their first antenatal care.SettingThe surveillance was set in one referral hospital in Harar, one district hospital and one health centre located in Haramaya district in rural eastern Ethiopia.ParticipantsWe collected questionnaire data and a blood sample from 3312 pregnant women between 1 April 2020 and 31 March 2021. We selected 1447 blood samples at random and assayed these for anti-SARS-CoV-2 antibodies at Hararghe Health Research laboratory using WANTAI SARS-CoV-2 Rapid Test for total immunoglobulin.OutcomeWe assayed for anti-SARS-CoV-2 antibodies and temporal trends in seroprevalence were analysed with a χ2 test for trend and multivariable binomial regression.ResultsAmong 1447 sera tested, 83 were positive for anti-SARS-CoV-2 antibodies giving a crude seroprevalence of 5.7% (95% CI 4.6% to 7.0%). Of 160 samples tested in April–May 2020, none was seropositive; the first seropositive sample was identified in June and seroprevalence rose steadily thereafter (χ2 test for trend, p=0.003) reaching a peak of 11.8% in February 2021. In the multivariable model, seroprevalence was approximately 3% higher in first-trimester mothers compared with later presentations, and rose by 0.75% (95% CI 0.31% to 1.20%) per month of calendar time.ConclusionsThis clinical convenience sample illustrates the dynamic of the SARS-CoV-2 epidemic in pregnant women in eastern Ethiopia; infection was rare before June 2020 but it spread in a linear fashion thereafter, rather than following intermittent waves, and reached 10% by the beginning of 2021. After 1 year of surveillance, most pregnant mothers remained susceptible.
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- 2021
37. Association between neighbourhood deprivation, fetal growth, small-for-gestational age and preterm birth
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Dionne V Gootjes, Eric A.P. Steegers, Anke G. Posthumus, Vincent W. V. Jaddoe, Obstetrics & Gynecology, Erasmus MC other, and Pediatrics
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medicine.medical_specialty ,Gestational Age ,Prenatal diagnosis ,preventive medicine ,risk management ,Ultrasonography, Prenatal ,Odds ,Cohort Studies ,Fetal Development ,social medicine ,Pregnancy ,Obstetrics and Gynaecology ,medicine ,Humans ,Prospective Studies ,Risk factor ,Prospective cohort study ,Neighbourhood (mathematics) ,prenatal diagnosis ,Obstetrics ,business.industry ,public health ,Infant, Newborn ,Pregnancy Outcome ,ultrasonography ,General Medicine ,medicine.disease ,Infant, Small for Gestational Age ,Premature Birth ,Medicine ,Small for gestational age ,Female ,Generation R ,business ,Cohort study - Abstract
ObjectiveTo study the associations between neighbourhood deprivation and fetal growth, including growth in the first trimester, and adverse pregnancy outcomes.DesignProspective cohort study.SettingThe Netherlands, Rotterdam.Participants8617 live singleton births from the Generation R cohort study.ExpositionLiving in a deprived neighbourhood.Main outcome measuresFetal growth trajectories of head circumference, weight and length.Secondary outcomes measuresSmall-for-gestational age (SGA) and preterm birth (PTB).ResultsNeighbourhood deprivation was not associated with first trimester growth. However, a higher neighbourhood status score (less deprivation) was associated with increased fetal growth in the second and third trimesters (eg, estimated fetal weight; adjusted regression coefficient 0.04, 95% CI 0.02 to 0.06). Less deprivation was also associated with decreased odds of SGA (adjusted OR 0.91, 95% CI 0.86 to 0.97, p=0.01) and PTB (adjusted OR 0.89, 95% CI 0.82 to 0.96, p=0.01).ConclusionsWe found an association between neighbourhood deprivation and fetal growth in the second and third trimester pregnancy, but not with first trimester growth. Less neighbourhood deprivation is associated with lower odds of adverse pregnancy outcomes. The associations remained after adjustment for individual-level risk factors. This supports the hypothesis that living in a deprived neighbourhood acts as an independent risk factor for fetal growth and adverse pregnancy outcomes, above and beyond individual risk factors.
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- 2021
38. Reference ranges of fetal heart function using a Modified Myocardial Performance Index: a prospective multicentre, cross-sectional study
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Jijing Han, Lulu Zhou, Zhen Li, Qingqing Wu, X. Chen, Jingjing Wang, Yuqing Zhou, Baoying Ye, Lan Yu, Yuxin Jiang, Hua Hong, Peiwen Chen, Wei Guo, Na Zhang, Lina Zhang, Sheng Zhao, Zhenna Wang, Jianmei Niu, Jiawei Tian, Hong Lu, Tiantian Chen, Wei Zhao, Wenjun Zhang, Xiaoming Zhang, Congxin Sun, Lijuan Sun, and Xiaoting Su
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China ,fetal medicine ,medicine.medical_specialty ,Cross-sectional study ,heart failure ,Gestational Age ,Prenatal diagnosis ,030204 cardiovascular system & hematology ,Ultrasonography, Prenatal ,03 medical and health sciences ,Fetal Heart ,0302 clinical medicine ,Pregnancy ,Reference Values ,Internal medicine ,medicine ,Humans ,echocardiography ,Prospective Studies ,Isovolumetric contraction ,Fetus ,prenatal diagnosis ,030219 obstetrics & reproductive medicine ,business.industry ,Singleton ,Radiology and Imaging ,Ultrasound ,Infant, Newborn ,Gestational age ,ultrasonography ,General Medicine ,medicine.disease ,Echocardiography, Doppler ,Cross-Sectional Studies ,cardiology ,Heart failure ,Cardiology ,Medicine ,Female ,business - Abstract
ObjectivesThe primary aim of this study was to establish the normal reference ranges of the fetal left ventricular (LV) Modified Myocardial Performance Index (Mod-MPI). A secondary aim was to evaluate the agreement between manual and automatic measurements for fetal Mod-MPI.DesignA prospective, multicentre, cross-sectional study.ParticipantsNormal singleton pregnancies.MethodsThe LV functions of normal singleton pregnancies were assessed in nine centres covering eight provinces in China using unified ultrasound protocols and settings and standardised measurements by pulsed Doppler at 20–24, 28–32 and 34–38 weeks of gestation. The isovolumetric relaxation time (IRT), isovolumetric contraction time, ejection time (ET) and Mod-MPI were measured both automatically and manually.ResultsThis cross-sectional study included 2081 fetuses, and there was a linear correlation between gestational age (GA) and Mod-MPI (0.416+0.001×GA (weeks), p2=0.013), IRT (36.201+0.162× GA (weeks), p2=0.021) and ET (171.418–0.078*GA (weeks), p2=0.002). This finding was verified using longitudinal data in a subgroup of 610 women. The agreement between the manual and automated measurements for Mod-MPI was good.ConclusionsWe constructed normal reference values of fetal LV Mod-MPI. Automatic measurement can be considered for ease of measurement in view of the good agreement between the automatic and manual values.
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- 2021
39. The outcome of prenatal identification of sex chromosome abnormalities.
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Lucas-Herald, Angela K., Cann, Fiona, Crawford, Lorna, Morrison, Holly, Boroujerdi, Massoud, Nelson, Scott M., Ahmed, S. Faisal, and McGowan, Ruth
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SEX chromosome abnormalities ,PRENATAL care ,PREGNANCY complications ,FOLLOW-up studies (Medicine) ,KARYOTYPES ,MATERNAL health services ,EVALUATION of medical care ,PREGNANCY ,PRENATAL diagnosis ,RESEARCH funding ,RETROSPECTIVE studies - Abstract
Objective: The outcome of a pregnancy following identification of a sex chromosome abnormality (SCA) is unclear. The aims of this study were to ascertain the prevalence of SCA detected prenatally in Scotland and to determine the outcomes for these cases.Design: Following retrospective identification of all prenatal karyotypes performed in Scotland between 2000 and 2012, data linkage was performed to obtain information regarding maternal characteristics and pregnancy outcomes. Detailed outcome data were also collected for all affected offspring in the West of Scotland and Grampian regions within Scotland.Results: Of the 28 145 pregnancies that had a karyotype over the study period, records were available for 27 152 (96%). Karyotype abnormalities were identified in 2139 (8%), with SCA being identified in 321(1%) tests. 45,X was identified as the commonest SCA in 135 pregnancies. Of 121 pregnancies with SCA in the West of Scotland and Grampian, 64 (53%), 52 (43%) and 5 (4%) led to a live birth, termination and intrauterine death, respectively. Of the 64 live births, 21 (33%) had a postnatal karyotype and 35 (54%) received specialist follow-up for the SCA that was identified prenatally.Conclusions: Abnormalities of sex chromosomes are identified in approximately 1% of all pregnancies that undergo a prenatal karyotype. There is a need to review the prenatal as well as postnatal care of the affected mother and offspring. [ABSTRACT FROM AUTHOR]- Published
- 2016
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40. Cost-effectiveness of HIV and syphilis antenatal screening: a modelling study.
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Bristow, Claire C., Larson, Elysia, Anderson, Laura J., and Klausner, Jeffrey D.
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DIAGNOSIS of syphilis ,DIAGNOSIS of HIV infections ,PRENATAL diagnosis ,HIV prevention ,SYPHILIS prevention ,HEALTH outcome assessment ,COMMUNICABLE disease diagnosis ,PREVENTION of communicable diseases ,HIV infections ,HIV infection transmission ,PREVENTION of pregnancy complications ,PRENATAL care ,MEDICAL screening ,COMMUNICABLE diseases ,DIAGNOSTIC reagents & test kits ,PREGNANCY complications ,ALGORITHMS ,COST effectiveness ,EVALUATION of medical care ,PREGNANCY ,RESEARCH funding ,SYPHILIS ,PATIENTS' attitudes ,VERTICAL transmission (Communicable diseases) ,ECONOMICS ,DIAGNOSIS ,INFECTIOUS disease transmission ,PREVENTION - Abstract
Objectives: The WHO called for the elimination of maternal-to-child transmission (MTCT) of HIV and syphilis, a harmonised approach for the improvement of health outcomes for mothers and children. Testing early in pregnancy, treating seropositive pregnant women and preventing syphilis reinfection can prevent MTCT of HIV and syphilis. We assessed the health and economic outcomes of a dual testing strategy in a simulated cohort of 100 000 antenatal care patients in Malawi.Methods: We compared four screening algorithms: (1) HIV rapid test only, (2) dual HIV and syphilis rapid tests, (3) single rapid tests for HIV and syphilis and (4) HIV rapid and syphilis laboratory tests. We calculated the expected number of adverse pregnancy outcomes, the expected costs and the expected newborn disability-adjusted life years (DALYs) for each screening algorithm. The estimated costs and DALYs for each screening algorithm were assessed from a societal perspective using Markov progression models. Additionally, we conducted a Monte Carlo multiway sensitivity analysis, allowing for ranges of inputs.Results: Our cohort decision model predicted the lowest number of adverse pregnancy outcomes in the dual HIV and syphilis rapid test strategy. Additionally, from the societal perspective, the costs of prevention and care using a dual HIV and syphilis rapid testing strategy was both the least costly ($226.92 per pregnancy) and resulted in the fewest DALYs (116 639) per 100 000 pregnancies. In the Monte Carlo simulation the dual HIV and syphilis algorithm was always cost saving and almost always reduced DALYs compared with HIV testing alone.Conclusions: The results of the cost-effectiveness analysis showed that a dual HIV and syphilis test was cost saving compared with all other screening strategies. Updating existing prevention of mother-to-child HIV transmission programmes in Malawi and similar countries to include dual rapid testing for HIV and syphilis is likely to be advantageous. [ABSTRACT FROM AUTHOR]- Published
- 2016
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41. Aspects of pulse oximetry screening for critical congenital heart defects: when, how and why?
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Narayen, Ilona C., Blom, Nico A., Ewer, Andrew K., Vento, Maximo, Manzoni, Paolo, and te Pas, Arjan B.
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CONGENITAL heart disease in children , *MEDICAL screening , *OXIMETRY , *NEONATAL intensive care , *FALSE positive error , *CONGENITAL heart disease diagnosis , *ALTITUDES , *COST effectiveness , *ECHOCARDIOGRAPHY , *GESTATIONAL age , *NEWBORN screening , *PRENATAL diagnosis - Abstract
Pulse oximetry (PO) screening for critical congenital heart defects (CCHD) has been studied extensively and is being increasingly implemented worldwide. This review provides an overview of all aspects of PO screening that need to be considered when introducing this methodology. PO screening for CCHD is effective, simple, quick, reliable, cost-effective and does not lead to extra burden for parents and caregivers. Test accuracy can be influenced by targets definition, gestational age, timing of screening and antenatal detection of CCHD. Early screening can lead to more false positive screenings, but has the potential to detect significant pathology earlier. There is no apparent difference in accuracy between screening with post-ductal measurements only, compared with screening using pre-ductal and post-ductal measurements. However, adding pre-ductal measurements identifies cases of CCHD which would have been missed by post-ductal screening. Screening at higher altitudes leads to more false positives. Important non-cardiac pathology is found in 35-74% of false positives in large studies. Screening is feasible in neonatal intensive care units and out-of-hospital births. Training caregivers, simplifying the algorithm and using computer-based interpretation tools can improve the quality of the screening. Caregivers need to consider all aspects of screening to enable them to choose an optimal protocol for implementation of CCHD screening in their specific setting. [ABSTRACT FROM AUTHOR]
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- 2016
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42. Prenatal therapy in transient abnormal myelopoiesis: a systematic review.
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Tamblyn, J. A., Norton, A., Spurgeon, L., Donovan, V., Russell, A. Bedford, Bonnici, J., Perkins, K., Vyas, P., Roberts, I., Kilby, M. D., and Bedford Russell, A
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FETAL diseases , *PRENATAL care , *BLOOD transfusion , *GATA proteins , *BIOMARKERS , *SYSTEMATIC reviews , *DIAGNOSIS of Down syndrome , *PRENATAL diagnosis , *LEUCOCYTE disorders , *PROGNOSIS , *PROTEINS , *RESEARCH funding , *DOWN syndrome , *DIAGNOSIS , *THERAPEUTICS - Abstract
Objective: To systematically review current evidence regarding prenatal diagnosis and management of transient abnormal myelopoiesis (TAM) in fetuses with trisomy 21. A novel case of GATA1-positive TAM, in which following serial in utero blood transfusion clinical improvement and postnatal remission were observed, is included.Search Strategy and Data Collection: A systematic search of electronic databases (inception to October 2014) and reference lists, hand-searching of journals and expert contact. All confirmed cases of prenatal TAM were included for analysis. Data on study characteristics, design and quality were obtained.Results: Of 73 potentially relevant citations identified, 22 studies were included, describing 39 fetuses. All studies included comprised single case or small cohort studies; overall quality was 'very low'. Fetal/neonatal outcome was poor; 12 stillbirths (30.8%), 4 neonatal deaths (10.2%) and 7 infant deaths (17.9%). In two cases, the pregnancy was terminated (5.1%). TAM was primarily detected in the third trimester (79.4%), and in 14 a retrospective diagnosis was made postpartum. Ultrasound features indicative of TAM included hepatomegaly±splenomegaly (79.5%), hydrops fetalis (30.8%), pericardial effusion (23.1%) and aberrant liquor volume (15.4%). When performed, liver function tests were abnormal in 91.6% of cases.Conclusions: Prenatal TAM presents a challenging diagnosis, and prognosis is poor, with consistently high mortality. A low threshold to measure haematological and biochemical markers is advised when clinical features typical of TAM are detected in the context of trisomy 21. Larger prospective studies are warranted to accurately ascertain the role of GATA1 analysis and potential value of prenatal therapy. [ABSTRACT FROM AUTHOR]- Published
- 2016
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43. Effectiveness of combined vaginal progesterone and cervical cerclage in preventing preterm birth: a systematic review and meta-analysis protocol
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Jason Phung, Carol A. Wang, Rosanna Diacci, Anne-Marie Aubin, Kimberley P. Williams, Liam McAuliffe, Craig E. Pennell, Ashad Issah, and Jack E McAuliffe
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medicine.medical_specialty ,fetal medicine ,medicine.medical_treatment ,MEDLINE ,CINAHL ,Cochrane Library ,Cohort Studies ,03 medical and health sciences ,0302 clinical medicine ,Meta-Analysis as Topic ,Pregnancy ,Obstetrics and Gynaecology ,medicine ,Humans ,Cervical cerclage ,030212 general & internal medicine ,Child ,Progesterone ,Cerclage, Cervical ,maternal medicine ,030219 obstetrics & reproductive medicine ,obstetrics ,prenatal diagnosis ,business.industry ,Obstetrics ,Infant, Newborn ,General Medicine ,Data extraction ,Meta-analysis ,Relative risk ,Child, Preschool ,Premature Birth ,Medicine ,Female ,business ,Cohort study ,Systematic Reviews as Topic - Abstract
IntroductionPreterm birth (PTB) is the leading cause of death in children under 5 years. Preventive therapies targeted towards women with risk factors such as a prior PTB or a short cervix reduce the rate of PTB. Cervical cerclage, vaginal progesterone and a combination of the two have been used with no consensus as to whether combined treatment is more effective than any single treatment alone. The objective of this review is to determine the efficacy of combined treatment compared with cerclage alone and combined treatment compared with progesterone alone.Methods and analysisStudies will be sourced from the electronic databases Medline (Ovid), EMBASE (Ovid), PsycINFO (Ovid), Scopus, CINAHL (EBSCOhost) and Cochrane Library (Wiley) and reference lists. We will not exclude any papers due to publication date. Randomised control trials (RCTs), non-RCTs and cohort studies assessing single therapy (either progesterone or cerclage) versus combined therapy in women with a singleton pregnancy will be included. Two independent reviewers will conduct study screening (at abstract and full-text level), data extraction and risk of bias assessment with disagreements resolved by an experienced researcher. Random or fixed effects models will be used depending on data heterogeneity and data will be presented as risk ratio for dichotomous data or mean difference for continuous data with a CI of 95% used for all outcomes.Ethics and disseminationNot applicable due to nature of the study type.PROSPERO registration numberCRD42020195975.
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- 2021
44. Proposal of MUAC as a fast tool to monitor pregnancy nutritional status: results from a cohort study in Brazil
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Renato T Souza, Jussara Mayrink, Francisco Feitosa, Edilberto Rocha Filho, Debora F Leite, Janete Vettorazzi, Danielly S Santana, Danilo Anacleto, Daisy Lucena, Matias C Vieira, Rodolfo C Pacagnella, Mary A Parpinelli, Maria J Miele, IMP Calderon, Karayna G Fernandes, Maria L Costa, Rafael B Galvão, José P Guida, Bianca F Nicolosi, Denise F Cordeiro, Elias F Melo, Lucia Pfitscher, Luiza Brust, Universidade Estadual de Campinas (UNICAMP), Universidade Estadual Paulista (Unesp), Federal University of Ceara, Universidade Federal de Pernambuco (UFPE), Federal University of Rio Grande Do sul, and School of Life Course Sciences
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medicine.medical_specialty ,Nutritional Status ,Prenatal diagnosis ,Prenatal care ,Body Mass Index ,Cohort Studies ,03 medical and health sciences ,0302 clinical medicine ,Pregnancy ,Positive predicative value ,Obstetrics and Gynaecology ,medicine ,Humans ,030212 general & internal medicine ,nutrition & dietetics ,maternal medicine ,030219 obstetrics & reproductive medicine ,prenatal diagnosis ,Anthropometry ,Obstetrics ,business.industry ,Infant, Newborn ,General Medicine ,medicine.disease ,Arm ,Gestation ,Medicine ,Female ,Underweight ,medicine.symptom ,business ,Body mass index ,Brazil ,Cohort study - Abstract
Made available in DSpace on 2021-06-25T11:01:15Z (GMT). No. of bitstreams: 0 Previous issue date: 2021-05-24 Objective In Brazil, although the assessment of maternal nutritional status is recommended using body mass index (BMI), this is only possible in settings adequately prepared. Midupper arm circumference (MUAC) is another biological variable identified as a tool for rapid assessment of nutritional status that is correlated with BMI. Therefore, we aim to surrogate BMI by MUAC cut-offs for rapid screening of maternal nutritional status starting at midpregnancy. Design Analysis of the multicentre cohort study entitled 'Preterm SAMBA' using an approach of validation of diagnostic test. Setting Outpatient prenatal care clinics from five tertiary maternity hospitals from three different Brazilian regions. Participants 1165 pregnant women attending prenatal care services from 2015 to 2018 and with diverse ethnic characteristics who were enrolled at midpregnancy and followed in three visits at different gestational weeks. Primary and secondary outcome measures Sensitivity, specificity, positive and negative predictive values, likelihood ratio and accuracy of MUAC being used instead of BMI for the assessment of nutritional status of women during pregnancy. Results We found a strong correlation between MUAC and BMI, in the three set points analysed (r=0.872, 0.870 and 0.831, respectively). Based on BMI categories of nutritional status, we estimated the best MUAC cut-off points, finding measures according to each category: Underweight 30.15 cm (19-21 weeks), >30.60 cm (27-29 weeks) and >30.25 cm (37-39 weeks) per gestational week. Therefore, we defined as adequate between 25.75-28.10 cm (19-21 weeks), 25.75-28.70 cm (27-29 weeks) and 25.75-29.45 cm (37-39 weeks) of MUAC. Conclusion We conclude that MUAC can be useful as a surrogate for BMI as a faster screening of nutritional status in pregnant women. Obstetrics and Gynecology State University of Campinas Department of Gynecology and Obstetrics UNESP Campus de Botucatu Obstetric Department of MEAC Federal University of Ceara Obstetrics and Gynecology Federal University of Pernambuco Obstetrics and Gynecology Federal University of Rio Grande Do sul Division of Women's Health King's College London School of Life Course Sciences Department of Gynecology and Obstetrics UNESP Campus de Botucatu
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- 2021
45. Atypical morphological variants of congenital cataract in Down’s syndrome
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Sandton Jayakumari Simon Raj, Sudarshan Khokhar, Mousumi Banerjee, and Shweta Sandhu
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0301 basic medicine ,medicine.medical_specialty ,genetic structures ,Images In… ,Visual impairment ,Population ,030105 genetics & heredity ,Cataract ,OPHTHALMIC DISORDERS ,03 medical and health sciences ,0302 clinical medicine ,Pregnancy ,Ophthalmology ,Prenatal Diagnosis ,medicine ,Humans ,Strabismus ,education ,education.field_of_study ,S syndrome ,business.industry ,General Medicine ,eye diseases ,Female ,sense organs ,medicine.symptom ,Down Syndrome ,business ,030217 neurology & neurosurgery ,Maternal Age - Abstract
A myriad of ophthalmic disorders are associated with Down’s syndrome including refractive errors, strabismus and cataract resulting in significant visual impairment. Haargaard et al estimated a population-based frequency of 1.4% of early cataract in Down’s syndrome with less than 1% requiring
- Published
- 2021
46. What's that abdominal mass?
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Mistry, Aarti, Bandhu, Suman, Davies, Emily, and Medd, Nicola
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PRENATAL diagnosis ,CHILDREN'S health ,HOSPITAL admission & discharge ,UTERINE prolapse ,ABDOMINAL radiography ,DIFFERENTIAL diagnosis ,FETAL ultrasonic imaging ,VAGINAL diseases - Published
- 2018
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47. Case-based discussion from the neonatal intensive care unit: a case of an intentional oesophageal intubation.
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Jamieson, Katharine, Boyd, Stephanie, Tan, Susern, Wong, Davina, James, Paul, Durward, Andrew, and Nyman, Andrew
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INTENSIVE care units ,NEONATAL intensive care ,PRENATAL diagnosis ,PUERPERIUM ,INTUBATION - Abstract
Tracheal agenesis (TA) is a rare congenital defect consisting of complete or partial absence of the trachea below the larynx. Antenatal diagnosis is challenging, and most cases are detected in the postnatal period. Airway management of such cases, particularly in the absence of antenatal diagnosis, can be challenging. Various methods of management have been described but with limited success, and overall prognosis remains very poor. We present an unexpected case of TA, highlighting management issues and diagnostic methods. [ABSTRACT FROM AUTHOR]
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- 2018
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48. Successful management of anastomotic leakage with endoscopic fibrin glue injection after primary repair of pure oesophageal atresia
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Ryo Tamura, Chloe Roy, Hany Gabra, and Leigh McDonald
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medicine.medical_specialty ,Case Report ,Anastomotic Leak ,Fibrin Tissue Adhesive ,Anastomosis ,03 medical and health sciences ,0302 clinical medicine ,Postoperative Complications ,Prenatal Diagnosis ,Medicine ,Humans ,Fibrin glue ,Feeding tube ,Esophageal Atresia ,Gastrostomy ,medicine.diagnostic_test ,business.industry ,Anastomosis, Surgical ,Infant, Newborn ,Infant ,Interventional radiology ,General Medicine ,Plastic Surgery Procedures ,medicine.disease ,Mediastinitis ,Endoscopy ,Surgery ,Parenteral nutrition ,030220 oncology & carcinogenesis ,Atresia ,Esophageal Stenosis ,030211 gastroenterology & hepatology ,Female ,Tissue Adhesives ,Esophagoscopy ,Down Syndrome ,business - Abstract
Anastomotic leakage (AL) occurs in 15% of cases of primary repair of oesophageal atresia. Urgent surgery is indicated in cases of complete anastomotic separation or severe mediastinitis. Otherwise, conservative management including keeping the patient nil per os (NPO), feeding via transanastomotic tube and prolonged parenteral nutrition, has been widely accepted as it can avoid multiple surgeries in neonates and allow oesophageal continuity to be preserved. However, complications relating to prolonged feeding tube use are common downsides to this approach and the negative impact of prolonged NPO on mastication and swallowing function cannot be ignored.In this case report, a novel approach for the treatment of AL with fibrin glue is reported, following primary repair of oesophageal atresia. It was endoscopically injected into the leakage site to enhance healing and early closure. This procedure was safely performed and achieved early establishment of oral feeding.
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- 2021
49. Prenatal diagnosis of absent pulmonary valve syndrome
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Luís Guedes-Martins and Maria Lúcia Moleiro
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0301 basic medicine ,Heart Defects, Congenital ,congenital, hereditary, and neonatal diseases and abnormalities ,medicine.medical_specialty ,Images In… ,Adolescent ,Prenatal diagnosis ,030105 genetics & heredity ,03 medical and health sciences ,0302 clinical medicine ,Pregnancy ,Internal medicine ,medicine.artery ,Prenatal Diagnosis ,medicine ,Humans ,cardiovascular diseases ,Aorta ,Pulmonary Valve ,business.industry ,Gestational age ,General Medicine ,Absent pulmonary valve syndrome ,medicine.disease ,Fetal Diseases ,cardiovascular system ,Cardiology ,Gestation ,Female ,business ,030217 neurology & neurosurgery - Abstract
An 18-year-old woman, with a congenital subaortic interventricular communication, was diagnosed with a 17-week gestation. On the first echography, at that gestational age, a subaortic ventricular septal defect (VSD) with an over-riding aorta (Ao) was identified ([figure 1][1]) associated with
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- 2021
50. The PROMISES study: a mixed methods approach to explore the acceptability of salivary progesterone testing for preterm birth risk among pregnant women and trained frontline healthcare workers in rural India
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Paul T Seed, Vikram Singh, Sergio A Silverio, Rachel M Tribe, Danielle Ashworth, Pankhuri Sharma, Simi Khan, Nishtha Kathuria, Priyanka Garg, Mohan Ghule, V B Shivkumar, Atul Tayade, Sunil Mehra, Poonam V Shivkumar, Ritu Dargan, Archana Sarkar, and Lalita Sengupta
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medicine.medical_specialty ,India ,lcsh:Medicine ,Qualitative property ,03 medical and health sciences ,0302 clinical medicine ,McNemar's test ,Pregnancy ,Health care ,medicine ,Humans ,030212 general & internal medicine ,Social determinants of health ,Progesterone ,Community Health Workers ,maternal medicine ,prenatal diagnosis ,Descriptive statistics ,business.industry ,030503 health policy & services ,Public health ,lcsh:R ,Infant, Newborn ,General Medicine ,Test (assessment) ,Cross-Sectional Studies ,Family medicine ,Structured interview ,Premature Birth ,Female ,Pregnant Women ,Public Health ,0305 other medical science ,business - Abstract
IntroductionIndia has an overall neonatal mortality rate of 28/1000 live births, with higher rates in rural India. Approximately 3.5 million pregnancies in India are affected by preterm birth (PTB) annually and contribute to approximately a quarter of PTBs globally. Embedded within the PROMISES study (which aims to validate a low-cost salivary progesterone test for early detection of PTB risk), we present a mixed methods explanatory sequential feasibility substudy of the salivary progesterone test.MethodsA pretraining and post-training questionnaire to assess Accredited Social Health Activists (ASHAs) (n=201) knowledge and experience of PTB and salivary progesterone sampling was analysed using the McNemar test. Descriptive statistics for a cross-sectional survey of pregnant women (n=400) are presented in which the acceptability of this test for pregnant women is assessed. Structured interviews were undertaken with ASHAs (n=10) and pregnant women (n=9), and were analysed using thematic framework analysis to explore the barriers and facilitators influencing the use of this test in rural India.ResultsBefore training, ASHAs’ knowledge of PTB (including risk factors, causes, postnatal support and testing) was very limited. After the training programme, there was a significant improvement in the ASHAs’ knowledge of PTB. All 400 women reported the salivary test was acceptable with the majority finding it easy but not quick or better than drawing blood. For the qualitative aspects of the study, analysis of interview data with ASHAs and women, our thematic framework comprised of three main areas: implementation of intervention; networks of influence and access to healthcare. Qualitative data were stratified and presented as barriers and facilitators.ConclusionThis study suggests support for ongoing investigations validating PTB testing using salivary progesterone in rural settings.
- Published
- 2021
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