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Congenital hemangiomas are rare benign vascular tumors but can lead to serious adverse pregnancy outcomes. Its prenatal diagnosis is a challenge. We explored the clinical applications of prenatal ultrasound for evaluating fetal cutaneous hemangioma and associated complications. A retrospective observational study was conducted comprising a population of pregnant women with fetal cutaneous hemangioma, the latter diagnosed by prenatal ultrasound, between January 2016 and December 2020. The clinical characteristics, sonographic images, complications, and pregnancy outcomes were documented and analyzed. We identified 20 cases of fetal cutaneous hemangioma diagnosed by prenatal ultrasound and confirmed by postpartum examinations. Most hemangiomas were in the head and neck (55%), with either solid isoechoicity (25%) or solid mildly hyperechoic (25%), and well-circumscribed (80%) mass. Eight (40%) fetuses experienced complications, which often occurred in fetuses with large hemangiomas (67% with maximum diameter ≥5 cm; 100% with a volume ≥40 cm3). The most common complications were cardiac-related (88%), including elevated cardiothoracic area ratio, atrioventricular valve regurgitation, and fetal hydrops. A large hemangioma was usually associated with advanced gestational age and a fast hemangioma growth rate. In five (25%) cases, the pregnancy was terminated; these involved hemangioma of the head or neck. One newborn developed Kasabach–Merritt phenomenon, pulmonary hemorrhage and respiratory distress, and died 3 days after birth. Among the 14 (70%) fetuses that survived birth, all hemangiomas disappeared or regressed after treatments with propranolol, interventional surgery, or observed routinely. Prenatal ultrasound examination can accurately diagnose fetal cutaneous hemangioma and related complications to facilitate appropriate management during the pregnancy. Prenatal diagnosis of cutaneous hemangiomas is a clinical challenge. Prenatal ultrasound examination could be a method to accurately diagnose and monitor these hemangiomas. [ABSTRACT FROM AUTHOR]

In an increasingly litigious medical environment, this study examined women's experiences of their interactions with practitioners when severe abnormalities are discovered at birth. Eight in-depth interviews with women were conducted in France. Data were analysed using Interpretative Phenomenological Analysis. Four superordinate themes were identified: the importance of attunement to women's emotions and needs; the possibility of litigation but no direct accusation; reasons for not resorting to litigation; and reframing and positive transformations. Despite experiencing distress, women were reluctant to make a complaint against practitioners. Several factors may account for this, but practitioners' ability to relate to women with humanity was particularly significant. Women understood the limits of technology and of the care practitioners can provide, but greatly valued practitioners' empathic and honest communications. Thus, adopting a transparent and open approach may foster trusting relationships with women/parents. In turn, this may lower the prospect of litigation being brought against practitioners when severe abnormalities are discovered at birth. [ABSTRACT FROM AUTHOR]

Introduction: The incidence of fetal goiters is reported to be around 1 per 40,000 births. The risk of complications is first of all obstetric, directly related to goiter size, but it may also affect longer term fetal and child development, depending on whether the goiter is due to hypo- or hyperthyroidism. Management is multidisciplinary, but not yet consensual and not always optimal by either endocrinologists or obstetricians.Objectives: The principal objective of this retrospective study was to analyze the data that enabled the physicians to assess whether the goiter was hypo- or hyperthyroid and then to analyze the obstetric practices used in the Pays de Loire network to describe in detail the tools used to diagnose and characterize the goiters and the management chosen in these cases. The secondary objectives are to assess, in our small cohort, the effectiveness of the in utero treatments provided, based on the examination of the children at birth and their outcome at 6 months of life, and to suggest a strategy for monitoring these women at risk that takes current guidelines into consideration.Materials and methods: This multicenter retrospective study covers a 6-year period and focused on the prenatal diagnosis centers (CPDPN) of the Pays de Loire perinatal network: in Nantes, Angers, and Le Mans. The network is responsible for around 42,000 births a year, and the study included 17 women, for a prevalence of 1 per 15,000 births.Results: Ten of the 17 fetuses had a hypothyroid goiter, 4 a hyperthyroid goiter, and 3 normal thyroid findings on fetal blood sample (FBS). For four women, these goiters were secondary to fetal dyshormonogenesis, for 9 more to Graves disease with TSH receptor antibodies (TRAb), and for four women to thyrotoxicosis at the start of pregnancy, managed by synthetic antithyroid drugs. Two newborns had severe complications associated with maternal transmission of Graves disease (TRAb positive at birth): one with exophthalmos and one with neonatal tachycardia. The other 14 had normal psychomotor development at 6 months, based on a clinical examination by a pediatric endocrinologist; only one child was lost to follow-up.Conclusion: Together, ultrasound and multidisciplinary expertise (of an endocrinologist and an obstetrician experienced with this disease) remain the best means for avoiding, or otherwise for accurately characterizing fetal goiter. An ultrasound diagnostic score, of the type proposed by Luton et al. in 2009, may make it possible to homogenize practices and thus to defer or delay the - currently too common - performance of invasive FBS procedures, which must remain rare in this management to limit comorbidities. A threshold TRAb value (>5 IU/l) makes it possible to define this group of women as at risk of fetal and neonatal hyperthyroidism and thus requiring close monitoring. The value of prenatal intra-amniotic thyroxine treatment for hypothyroid goiters (including dyshormonogenesis) remains to be demonstrated. [ABSTRACT FROM AUTHOR]

The aim of this study was to evaluate the maternal and foetal factors affect higher cell-free DNA (cfDNA) levels and to investigate a possible relationship between high cfDNA levels and adverse perinatal outcomes. From a total of 4594 women who underwent non-invasive prenatal testing from January 2016 to March 2018 in our hospital, 112 women had high levels of cfDNA, which was not appropriate for testing. Maternal characteristics and perinatal outcomes were compared between patients with high levels of cfDNA and normal levels of cfDNA. Patients with high levels of cfDNA had greater risks than patients with normal cfDNA levels of pregnancy complications but no statistically significant difference was found. Patients with high cfDNA levels had higher foetal death rates with a statistically significant difference (9.8% versus 1.8%, p = .024). An increase in foetal death could be expected in patients with increased cfDNA levels; therefore, these patients should be carefully followed up during pregnancy.IMPACT STATEMENTWhat's already known about this topic? Most studies about cfDNA levels are focussed on the foetal fraction. There are new arguments about maternal health and cfDNA. It is known that autoimmune diseases as systemic lupus erythematosus (SLE) and maternal obesity increase cell turnover. There are also clinical studies suggesting a relationship between low molecular weight heparin therapy and the amount of cfDNA.What do the results of this study add? This is the first study evaluating the maternal and foetal biological factors affecting cfDNA concentrations and investigating the possible relationship between high cfDNA levels and adverse perinatal outcomes in patients with high levels of cfDNA compared to patients with normal levels of cfDNA. In the present study, it was found that an increase in foetal death could be expected in patients with higher cfDNA levels.What are the implications of these findings for clinical practice and/or further research? If potential effects and underlying causes of increased cfDNA could be explained, cfDNA might be used as a biomarker for adverse perinatal outcomes. [ABSTRACT FROM AUTHOR]

Purpose: Intrapartum antibiotic prophylaxis (IAP) prevents group B streptococcus (GBS) early-onset disease (EOD). No European study evaluates the relative impact of risk factors (RFs) for EOD after a screening-based strategy and widespread IAP use We aimed to evaluate the risks of EOD in an Italian region where a screening-based strategy for preventing EOD was implemented.Materials and methods: Cases of EOD born at or above 35 weeks' gestation were reviewed and matched with controls.Results: There were 109 cases of EOD among 532,154 live births. Most cases had negative GBS prenatal screening (56/91, 61.5%) and were unexposed to IAP (86/109, 78.9%). At multivariate analysis, GBS bacteriuria (OR = 6.99), positive prenatal screening (OR = 13.7) and maternal intrapartum fever (OR = 188.3) were associated with an increased risk of EOD, whereas intrapartum beta-lactam antibiotics were associated with a decreased risk of EOD (≥4 h: OR = 0.008; <4 h: OR = 0.04). Neonates born to nonfebrile, GBS positive pregnant women, receiving beta-lactam antibiotics had very low probability of EOD, particularly if IAP was adequate.Conclusions: GBS positive prenatal screening, GBS bacteriuria and intrapartum fever are associated with EOD. Intrapartum beta-lactam antibiotics reduce the probability of EOD in neonates born to nonfebrile mothers. [ABSTRACT FROM AUTHOR]

Objective: The aim of this study was to evaluate the perinatal outcomes and postnatal follow-up of prenatally diagnosed suprarenal masses (SRMs) evaluated by magnetic resonance imaging (MRI). Methods: Thirteen fetuses with SRMs detected during routine prenatal ultrasound screening were evaluated by MRI between February 2007 and May 2015. The prenatal characteristics of the masses, complications of the pregnancies, and related malformations were collected as the postnatal clinical, radiological, and pathological data. Results: The median gestational age at MRI was 30 weeks (18–41), and birth weight was 3285 (1700–3750) g. The mean follow-up period was 6 years (1.3–10). We observed 69.2% of the masses, which were predominantly cystic (69.2%), located on the left side. Associated malformations were found in 23% of the fetuses, with congenital heart defects being more prevalent. During the pregnancy, 15.4% of the fetuses had involution of the SRM, and one fetus had surgical treatment and different ultrasound and MRI diagnoses. Of the 69.2% of the cases, spontaneous resolution occurred in 30.7% during the first year of life and 38.4% the masses presented without modifications or signs of regression since the neonatal period. Conclusions: Prenatal SRMs were associated with congenital heart defects. Spontaneous regression and absence of modifications in the masses were commonly observed in the long-term follow-up of the SRMs. [ABSTRACT FROM AUTHOR]

Background: Hypoglycaemia accounts for approximately one-tenth of term admissions to neonatal units can cause long-term neurodevelopmental impairment and is associated with the significant burden to the affected infants, families and the health system.Objective: To define the prevalence, length and cost of admissions for hypoglycaemia in infants born at greater than 35 weeks gestation and to identify antenatal and perinatal predictors of those outcomes.Materials and Methods: This was a retrospective audit of infants admitted for hypoglycaemia between 1 January 2012 and 31 December 2015, in a level three neonatal intensive care unit at King's College Hospital NHS Foundation Trust, London. The main outcome measures were the prevalence, length and cost of admissions for hypoglycaemia and antenatal and postnatal predictors of the length and cost of the stay.Results: There were 474 admissions for hypoglycaemia (17.8% of total admissions). Their median (IQR) blood glucose on admission was 2.1 (1.7-2.4) mmol/l, gestation at delivery 38.1 (36.7-39.3) weeks, birthweight percentile 31.4 (5.4-68.9), their length of stay was 3.0 (2.0-5.0). Admissions equated to a total of 2107 hospital days. The total cost of the stay was 1,316,591 Great Britain pound. The antenatal factors associated with admission for hypoglycaemia were maternal hypertension (19.8%), maternal diabetes (24.5%), foetal growth restriction (FGR) (25.9%) and pathological intrapartum cardiotocograph (23.4%). In 13.7% of cases, there was no associated pregnancy complication. Multivariate logistic regression analysis demonstrated lower gestational age, z-score birthweight squared, exclusive breastfeeding and maternal prescribed nifedipine were independently associated with the length and cost of the stay.Conclusion: Hypoglycaemia accounted for approximately one-fifth of admissions after 35-week gestation. Lower gestational age and admission blood glucose, low and high z-score birthweight, maternal nifedipine and exclusive breastfeeding are associated with longer duration of stay. [ABSTRACT FROM AUTHOR]

Objective: Premature rupture of the membranes (PROM) remains a leading cause of neonatal morbidity. The objectives of the present study were to analyze the outcomes of pregnancies complicated by PROM between 22 and 27+6 weeks of gestation (WG) and to study antepartum risk factors that might predict neonatal death.Patients and Methods: One hundred and seven pregnancies were analyzed over a 3-year period in a tertiary maternity hospital. The collected maternal and neonatal data were used to model and predict the outcome of PROM.Results: Prevalence of PROM (for live births) was 1.08%, and the overall survival rate was 59.8%. From preselected candidate variables, gestational age (GA) at PROM (p = .0002), a positive vaginal culture for pathogenic bacteria (p = .01), primiparity (p = .02), and the quantity of amniotic fluid (p = .03) were included in a multivariable logistic regression analysis. The corresponding adjusted odds ratios [95% confidence interval] were, respectively, 0.91 [0.87-0.96], 11.08 [1.65-74.42], 0.55 [0.33-0.91], and 0.97 [0.95-0.99]. These parameters were used to build a predictive score for neonatal death.Conclusions: The survival rate after PROM at 22-27+6 weeks of gestation was 59.8%. Our predictive model (built using multivariable logistic regression) may be of value for obstetricians and neonatologists counseling couples after PROM. [ABSTRACT FROM AUTHOR]

Objectives: To investigate the clinical course of fetal tachycardia and analyze the impact of intrauterine treatment on the postnatal treatment and patient outcomes.Study Design: This was a retrospective review of cases of fetal tachycardia that occurred from 2004 to 2006. Data were collected from questionnaires that were sent to all 750 secondary or tertiary perinatal care centers in Japan.Results: Eighty-two cases (14 with fetal hydrops) were analyzed (supraventricular tachycardia [SVT], n = 52; atrial flutter [AFL], n = 23; and ventricular tachycardia, n = 7). The overall mortality was 3.7%. Intrauterine treatment was performed for 41 fetuses (50.0%). Digoxin, flecainide and sotalol were mainly used for SVT and AFL. Fetal tachycardia resolved in 90.0% (27/30) of the cases without fetal hydrops and 90.9% (10/11) of the cases with fetal hydrops. Intrauterine treatment significantly reduced the incidence of cesarean delivery (29.3 vs. 70.7%, p < .01), preterm birth (12.2 vs. 41.5%, p = .02) and neonatal arrhythmias (48.8 vs. 78.0%, p = .01) in comparison to untreated fetuses.Conclusions: This nationwide survey revealed that intrauterine treatment was performed for approximately half of the cases of fetal tachycardia and was associated with lower rates of cesarean delivery, premature birth and neonatal arrhythmias in comparison to untreated fetuses. [ABSTRACT FROM AUTHOR]

There is increasing evidence that anxiety occurs frequently during pregnancy and can be one of the most important risk factors and predictors of postpartum depression (PPD). The aim of our study was to investigate whether antenatal anxiety is an independent predictor of PPD. We used the data of 476 women enrolled in a prospective study in a single maternity unit. The first assessment was conducted between 22 and 40 weeks gestation and a second time 8-12 months postpartum. Symptoms were measured using the Edinburgh Postnatal Depression Scale (EPDS) and the State Trait Anxiety Inventory (STAI). Based on our results, antenatal anxiety measured by a subscale of EPDS has predicted better PPD than the antenatal depressive subscale. However, the most relevant predictor of PPD might be the trait anxiety level of a women measured by STAI Trait Scale, whereas a cutoff value of 38 was identified to indicate higher risk of PPD. [ABSTRACT FROM AUTHOR]

Objective: We examined whether first trimester aneuploidy and pre-eclampsia screening markers predict gestational diabetes mellitus (GDM) in a large multi-ethnic cohort and the influence of local population characteristics on markers.Methods: Clinical and first trimester markers (mean arterial pressure (MAP), uterine artery pulsatility index (UtA PI), pregnancy associated plasma protein A (PAPP-A), free-β human chorionic gonadotropin (free-hCGβ)) were measured in a case-control study of 980 women (248 with GDM, 732 controls) at 11 to 13 + 6 weeks' gestation. Clinical parameters, MAP-, UtA PI-, PAPP-A-, and free-hCGβ-multiples-of-the-median (MoM) were compared between GDM and controls; stratified by ethnicity, parity, and GDM diagnosis <24 versus ≥24 weeks' gestation. GDM model screening performance was evaluated using AUROC.Results: PAPP-A- and UtA PI-MoM were significantly lower in GDM versus controls (median ((IQR) PAPP-A-MoM 0.81 (0.58-1.20) versus 1.00 (0.70-1.46); UtA PI-MoM 1.01 (0.82-1.21) versus 1.05 (0.84-1.29); p < .05). Previous GDM, family history of diabetes, south/east Asian ethnicity, parity, BMI, MAP, UtA PI, and PAPP-A were significant predictors in multivariate analysis (p < .05). The AUC for a model based on clinical parameters was 0.88 (95%CI 0.85-0.92), increasing to 0.90 (95%CI 0.87-0.92) with first trimester markers combined. The combined model best predicted GDM <24 weeks' gestation (AUC 0.96 (95%CI 0.94-0.98)).Conclusions: Addition of aneuploidy and pre-eclampsia markers is cost-effective and enhances early GDM detection, accurately identifying early GDM, a high-risk cohort requiring early detection, and intervention. Ethnicity and parity modified marker association with GDM, suggesting differences in pathophysiology and vascular risk. [ABSTRACT FROM AUTHOR]

Introduction: Although single-suture craniosynostosis is diagnosed sporadically during pregnancy, timely referral is critical for its treatment. Additionally, craniosynostosis leads to increased maternofetal trauma during birth. In the Netherlands, 95% of pregnant women receive a standard ultrasound at around 20 weeks of gestation, potentially an ideal setting for detecting craniosynostosis prenatally. To enhance the prenatal detection of the metopic and the sagittal suture synostosis, we wished to identify new screening parameters.Materials and Methods: We retrospectively analyzed data of the 20-week anomaly scan in trigonocephaly patients (n = 41), scaphocephaly patients (n = 41), and matched controls (n = 82). We measured six different cranial dimensions, including head circumference, biparietal diameter, and occipito-frontal diameter, defining the cephalic index as the ratio between biparietal and occipito-frontal diameter.Results: Prenatal biometric measurements did not differ significantly between trigonocephaly patients and controls. Although significantly lower in scaphocephaly patients (0.76 versus 0.79; p = .000), the cephalic index by itself is not appropriate for screening at 20 weeks of gestation. Longitudinal analysis suggests that a deflection in BPD curve is found in scaphocephaly patients, starting at 20 weeks of gestation.Conclusions: Prenatal biometric measurements do not differ significantly between trigonocephaly patients and controls. The CI is lower in scaphocephaly patients. A deflection in BPD curve should be followed by 3 D imaging of the cranial sutures. [ABSTRACT FROM AUTHOR]

Currently in Portugal, universal screening of pregnant women for Cytomegalovirus (CMV) infection is not performed. However, it is recommended to screen all women attending preconception care. We aimed to assess women's attendance to preconception care and if their serologic status regarding CMV was known and/or investigated in that consultation. In this cross-sectional study, we interviewed 240 women admitted to the obstetrical ward of a hospital in the Metropolitan Area of Porto (Portugal) about their adherence to preconception care and collected data regarding their CMV serologic status and its investigation. We found that 71.3% of the women who attended preconception care were not screened for CMV infection. Among primigravida, the screening rate was only of 30.4% (upper limit of CI 95%: 44.8%). There were no statistically significant differences between the private and public sectors of healthcare. We observed attendance to preconception care is high (73.1%). For the population subgroup of the metropolitan area of Porto, attendance to preconception care is at least 66%, with a 95% confidence level. Portuguese guidelines stating a woman's serologic status regarding CMV should be investigated in preconception care are not properly implemented. This suggests guidelines should assure the screening of previously non-screened women during pregnancy. [ABSTRACT FROM AUTHOR]

Objective: The objective of this study is to examine perinatal outcomes associated with cholestasis of pregnancy according to bile acid level and antenatal testing practice.Study Design: Retrospective cohort study of women with symptoms and bile acid testing from 2005 to 2014. Women were stratified by bile acid level: no cholestasis (<10 μmol/L), mild (10-39 μmol/L), moderate (40-99 μmol/L), and severe (≥100 μmol/L). The primary outcome was composite neonatal morbidity (hypoxic ischemic encephalopathy, severe intraventricular hemorrhage, bronchopulmonary dysplasia, necrotizing enterocolitis, or death).Results: 785 women were included; 487 had cholestasis (347 mild, 108 moderate, 32 severe) and 298 did not. After controlling for gestational age (GA), severe cholestasis was associated with the composite neonatal outcome (aRR 5.6, 95% CI 1.3-23.5) and meconium-stained fluid (aRR 4.82, 95%CI 1.6-14.2). Bile acid levels were not correlated with the frequency of testing (p = .50). Women who underwent twice weekly testing were delivered earlier (p = .016) than women tested less frequently, but the difference in GA was ≤4 d. Abnormal testing prompting delivery was uncommon. Among women with cholestasis, there were three stillbirths. One of these women was undergoing antenatal testing, which was normal 1 d prior to the fetal demise.Conclusion: Severe cholestasis is associated with neonatal morbidity which antenatal testing may not predict. [ABSTRACT FROM AUTHOR]

Objective: The objective of this study is to examine perinatal outcomes associated with cholestasis of pregnancy according to bile acid level and antenatal testing practice.Study Design: Retrospective cohort study of women with symptoms and bile acid testing from 2005 to 2014. Women were stratified by bile acid level: no cholestasis (<10 μmol/L), mild (10-39 μmol/L), moderate (40-99 μmol/L), and severe (≥100 μmol/L). The primary outcome was composite neonatal morbidity (hypoxic ischemic encephalopathy, severe intraventricular hemorrhage, bronchopulmonary dysplasia, necrotizing enterocolitis, or death).Results: 785 women were included; 487 had cholestasis (347 mild, 108 moderate, 32 severe) and 298 did not. After controlling for gestational age (GA), severe cholestasis was associated with the composite neonatal outcome (aRR 5.6, 95% CI 1.3-23.5) and meconium-stained fluid (aRR 4.82, 95%CI 1.6-14.2). Bile acid levels were not correlated with the frequency of testing (p = .50). Women who underwent twice weekly testing were delivered earlier (p = .016) than women tested less frequently, but the difference in GA was ≤4 d. Abnormal testing prompting delivery was uncommon. Among women with cholestasis, there were three stillbirths. One of these women was undergoing antenatal testing, which was normal 1 d prior to the fetal demise.Conclusion: Severe cholestasis is associated with neonatal morbidity which antenatal testing may not predict. [ABSTRACT FROM AUTHOR]

Objective: We aimed to assess the impact of antenatal MgSO4 therapy given to women with PPROM before 32 weeks' gestation on latency, maternal outcomes, perinatal outcomes, and neurodevelopmental outcomes.Methods: We undertook a retrospective cohort observational study of 184 singleton pregnancies complicated by PPROM at 23°-316 weeks who were hospitalized and received magnesium therapy for tocolysis (MgSO4 group) or did not receive tocolytic therapy (no MgSO4 group) between 2005 and 2013. Furthermore, patients were subdivided into two groups based on the gestational age at the onset of PPROM (23°-276 weeks' gestation and 28°-316 weeks' gestation).Results: We included 184 women, of whom 143 received magnesium therapy and 41 did not. The latency period was significantly longer in the MgSO4 group compared with no MgSO4 group (7.9 ± 9.0 versus 4.0 ± 6.0 days, p = .0017). Antenatal magnesium therapy was significantly associated with decreased stillbirth (1.4% versus 14.6%, p = .0012) and perinatal mortality (7% versus 19.5%, p = .0375) without significant increase in the risk of neonatal morbidities and chorioamnionitis. However, neonates who were exposed to antenatal MgSO4 were associated with higher Mg levels (3.63 ± 1.05 mg/dl versus 2.13 ± 0.48 mg/dl, p < .0001) and phosphate levels (6.90 ± 1.36 mg/d versus 6.40 ± 1.01 mg/dl, p = .0459) than those who were not exposed. Neonates who were exposed to MgSO4 showed significantly reduced risks of IVH (20.4% versus 58.3%; RR, 0.35; 95%CI, 0.17-0.71) and PVL (27.8% versus 58.3%; RR, 0.48; 95%CI, 0.25-0.91) in the subgroup of 23°-276 weeks' gestation. And the incidence of developmental delay in the subgroup of 23°-276 weeks' gestation was significantly lower in the MgSO4 group (6.5% versus 36.4%; RR, 0.18; 95%CI, 0.05-0.69). However, there were no significant differences in the development of IVH, PVL, and developmental delay between the two groups for patients in the subgroup of 28°-316 weeks' gestation. A similar trend was observed for cerebral palsy, with 22.2% of unexposed children affected compared with only 7.0% of exposed children (RR, 0.31; 95%CI, 0.10-1.00).Conclusions: Antenatal magnesium therapy in women with PPROM before 32 weeks' gestation could prolong latency period, allowing for corticosteroid benefit. Moreover, MgSO4 showed fetal neuroprotective effects for neonatal IVH and PVL, and for developmental delay in infancy while prolonging latency. However, these benefits were primarily limited to the subgroup of 23°-276 weeks' gestation and prolonged in utero exposure to MgSO4 was associated with bone mineralization in the neonates. [ABSTRACT FROM AUTHOR]

Purpose: One of the greatest challenges with the finding of adducted thumbs in the prenatal setting is the determination of whether this finding is associated with an underlying genetic syndrome. The aim of the present study is to describe the characteristics and outcome of prenatal sonographic diagnosis of adducted thumbs.Methods: A retrospective study was conducted over a period of 17 years in a tertiary referral center. All fetuses diagnosed prenatally with adducted thumbs comprised the study group. Prenatal sonographic assessment and neonatal outcome are presented.Results: Six fetuses were evaluated for adducted thumbs over the 17-year period. In three cases, the parents elected termination of pregnancy for severe associated anomalies. In one case partial resolution was observed during the third trimester. Of the remaining two fetuses, one had a single umbilical artery and in the second the adducted thumbs were an isolated finding. Post-natal evaluation in both cases revealed bilateral adducted thumbs. Apart from orthopedic follow up no further interventions were needed.Conclusions: Prenatal diagnosis of adducted thumbs should be followed by a meticulous fetal ultrasound examination combined with genetic counseling. According to our cohort, if associated anomalies are excluded, isolated cases seem to have a favorable diagnosis. [ABSTRACT FROM AUTHOR]

Aim: Identify structural anomalies and adverse pregnancy outcomes accompanying single umbilical artery (SUA) and persistent right umbilical vein (PRUV) and to investigate whether SUA and PRUV are associated with chromosomal abnormalities and if these defects warrant invasive antenatal diagnosis.Methods: We retrospectively analyzed pregnancies with an antenatal diagnosis of SUA/PRUV from the International Peace Maternity and Child Health Hospital (IPMCHH) database. Data of structural malformations, fetal karyotyping, and pregnancy outcomes were analyzed.Results: Results revealed that 13.9 and 7% of SUA and PRUV cases, respectively, had malformations. Furthermore, 60% of the malformations accompanying SUA were isolated congenital heart disease (CHD), and 50% of the malformations accompanying PRUV were multiple malformations including CHD. All primarily diagnosed isolated PRUV (iPRUV) cases and 92.6% of primarily diagnosed iSUA cases had normal fetal echocardiography. Cases of iSUA and iPRUV with indications of invasive antenatal diagnosis showed no chromosomal abnormalities. The emergency cesarean section rate did not differ between the study population and the IPMCHH general population (p = .184).Conclusion: Patients of SUA and PRUV diagnosed in secondary hospitals should be referred to tertiary medical center for further ultrasonography. SUA and PRUV are not indicators for invasive antenatal diagnosis and selective cesarean section. [ABSTRACT FROM AUTHOR]

Background: This study aims to assess the diagnostic and prognostic value of Swansea criteria in diagnosing acute fatty liver of pregnancy (AFLP) in a Chinese population.Methods: A retrospective study was conducted on 52 Chinese women diagnosed with AFLP. All selected cases were reassessed using the Swansea criteria with special focus on the noninvasive criteria, since performing a liver biopsy for this indication is rare in a Chinese population.Results: Ninety point four percent of patients fulfilled five or more of the Swansea criteria. Thirty-one cases were positive for six or more Swansea criteria, but there were no significance differences between patients when using a cutoff criteria <6 or >6. When patients were positive for less than seven criteria, frequency of stillbirth, continuous blood purification (CBP) treatment, hysterectomy, and postpartum hemorrhage were not increased. However, patients who were positive for seven or more criteria had a significantly higher risk of stillbirth and a higher rate of CBP treatment (p < 0.05). Areas under the receiver operating characteristic (ROC) curve of postpartum hemorrhage was 0.670, which reached a statistical significance (p = 0.040). We observed a significantly elevated postpartum hemorrhage along with positivity of the Swansea criteria (p = 0.040).Conclusions: Swansea criteria without liver biopsy are good screening tools for AFLP diagnosis, and may be useful for assessing disease severity. [ABSTRACT FROM AUTHOR]

Objective: We aimed to determine the potential value of maternal serum levels of acute phase reactants in the prediction of preterm delivery in women with threatened preterm labor (TPL).Methods: Ninety-one pregnant women diagnosed with TPL and 83 healthy pregnant women as a control group were included in this prospective controlled study. All the pregnant women were followed until delivery and obstetric data and the serum levels of acute phase reactants were recorded for each participant. The study group was further divided into two groups according to the gestational age at delivery, which include women delivering prematurely and the ones who gave birth at term.Results: Serum albumin levels were significantly lower and mean serum ferritin levels were significantly higher in the study groups when compared the control group.Conclusion: Although an association between decreased serum albumin level and TPL, also between increased serum ferritin levels and preterm birth and low birth weight were demonstrated, more extensive studies are needed to clarify the potential use of the acute phase reactants in the prediction of preterm birth. [ABSTRACT FROM AUTHOR]

Objective: Increasing maternal weight has been shown to predict adverse perinatal outcome, including increases in the relative risk of fetal death, stillbirth, neonatal death, perinatal death and infant death. In order to better understand the pathophysiological factors associated with obesity during pregnancy, the role of biomarkers associated with adverse outcomes in obese pregnant women is under investigation. The purpose of this review study was to examine potential biomarkers that could serve as effective screening strategies in obese pregnant women to reduce fetal and neonatal morbidity, as well as maternal morbidity.Methods: Electronic databases (Pubmed, Embase) were searched for previously published research studies that investigated biomarkers associated with perinatal outcomes in obese pregnant women and the putative mechanisms underlying biomarker effects on pregnancy outcomes.Results: It is evident that while several biomarkers predict perinatal complications in obese pregnant women, none fulfilled the criteria to be considered clinically useful.Conclusion: There is a critical need for reliable blood-based biomarkers associated with an increased risk of adverse perinatal outcomes in obese pregnant women. [ABSTRACT FROM AUTHOR]

Objective: To assess the impact of prenatal diagnosis of transposition of the great arteries (TGA) on postnatal outcome.Methods: Hundred and fifty-four patients with either simple (n = 101) or complex forms (n = 53) of TGA, diagnosed prenatally (G1, n = 88) or postnatally (G2, n = 66), who were admitted and underwent surgical correction in our centre between 1998 and 2014, were analysed.Results: Prostaglandin E1 (PgE1) infusion and balloon atrial septostomy (BAS) were performed in the first 48 h after birth more commonly in G1. The hospital mortality rate for the whole group was 7.1%, higher for complex forms (13.2%) than for simple TGA (3.9%), (p = 0.034). The overall mortality rate was similar in G1 and G2. The mortality for simple TGA was higher when PgE1 infusion and BAS were implemented after the first 48 h (p = 0.001). All deaths in G2 occurred in patients first receiving PgE1 and BAS beyond 48 h. PgE1 was initiated in the first 48 h in most patients (83%) with simple TGA postnatally diagnosed.Conclusions: Adequate measures in the first 48 h after birth are essential to reduce the early mortality in TGA, especially in the simple form. This can be provided by prenatal diagnosis or by early neonatal clinical suspicion and prompt measures. [ABSTRACT FROM AUTHOR]

Objectives: To investigate the predictive factors of urgent cesarean delivery (CD) due to acute intrapartum non-reassuring fetal status (NRFS) in infants with congenital heart defects (CHDs).Study Design: This was a retrospective review of 199 singletons prenatally diagnosed with a CHD and for whom vaginal delivery was attempted in our institution between 2007 and 2014. A cardiovascular profile (CVP) score was used to assess fetal heart failure.Results: The number of urgent CDs due to NRFS was 37 (18.6%). Fetuses with a CVP score ≤7 were significantly more likely to require urgent CD due to NRFS than those with a CVP score ≥8 (p < 0.001). Infants with right heart defects or biventricular cyanotic heart defects had a significantly higher frequency of urgent CD due to NRFS than those with other types of CHD (p = 0.017). Multivariate analysis showed that a CVP score ≤7, a birth weight <2500 g, and primipara status were significant predictors of urgent CD due to NRFS.Conclusions: Fetal heart failure, low birth weight, and primipara status were revealed to be independent predictors of urgent CD due to acute intrapartum NRFS in CHD infants. The CVP score may be a useful echocardiographic marker in perinatal management planning. [ABSTRACT FROM AUTHOR]

Purpose: The aim of this study was to assess longitudinal changes of bioimpedance analysis compared with anthropometric measurements in low-risk pregnant woman recruited in the first trimester and to observe possible differences in these indices in women who developed high-risk pregnancies.Materials and Methods: Bioimpedance indices for the three trimesters of pregnancies were calculated separately for uneventful pregnancies delivered of newborns > the 10th centile. These findings were compared with anthropometric measurements. Data of women who developed hypertensive disorders of pregnancy (HDP) or delivered SGA newborns were calculated and compared.Results: Significantly longitudinal increases were observed in these pregnancies for total body water (TBW), free fat mass, fat mass, and extra-cellular water. These increases were paralleled body mass index (BMI), skinfolds, and waist measurements. The correlations between these two sets of findings were poor. Women who developed HDP with AGA fetuses showed significantly different bioimpedance from normal cases. TBW indices were highly significantly different since the first trimester. In pregnancies delivered of SGA newborns, these indices were opposite of the values observed in patients with HDP-AGA, TBW in these patients was significantly reduced compared with normal pregnancies.Conclusions: The bioelectrical impedance is a fast, simple, noninvasive way to assess the TBW content in pregnancy. Our findings are in agreement with the hypothesis that bioimpedance might help to identify early in gestation patients at risk of developing different clinical phenotypes of hypertensive disease of pregnancy and SGA fetuses. [ABSTRACT FROM AUTHOR]

Purpose: To determine if sonographic variables, including fetal femur length to abdominal circumference (FL/AC) ratio, are associated with shoulder dystocia in women with gestational diabetes.Methods: This was a retrospective cohort study of women with gestational diabetes who delivered singleton infants at Parkland Hospital from 1997 to 2015. Diagnosis and treatment of gestational diabetes were uniform including sonography at 32-36 weeks. Biometric calculations were evaluated for correlation with shoulder dystocia.Results: During the study period, 6952 women with gestational diabetes underwent a sonogram at a mean gestation of 34.8 ± 1.8 weeks. Of 4183 vaginal deliveries, 66 experienced shoulder dystocia (16/1000). The FL/AC was associated with shoulder dystocia (p < 0.001) with an AUC of 0.70 (95% CI: 0.64-0.77). This was similar to age-adjusted AC and head circumference to AC ratio (HC/AC) (both with an AUC of 0.72). All other measurements, including estimated fetal weight, were inferior. When examining the 257 women with multiple sonograms after 32 weeks' gestation, FL/AC was stable with advancing gestational age (p = 0.54) whereas age-adjusted AC and HC/AC were not (p < 0.001).Conclusions: The FL/AC is associated with shoulder dystocia in women with gestational diabetes. Additionally, it is a simple ratio that is independent of the reference used and remains stable, unlike age-adjusted AC and HC/AC ratio. [ABSTRACT FROM AUTHOR]

Background: To evaluate the association between gestational age at presentation and interval to delivery in women with early spontaneous preterm delivery (PTD). Methods: A retrospective cohort study of women who presented with threatened preterm labor (tPTL) and intact membranes and had a spontaneous PTD <34 weeks in a university-affiliated hospital (2009–2015). The interval from presentation to delivery was compared between different gestational age subgroups. Results: Of 67 550 deliveries during the study period, 252 met inclusion criteria. This cohort was divided to three gestational age subgroups at presentation: 24–286/7weeks (n = 83), 29–316/7weeks (n = 61) and 32–336/7weeks (n = 108). Median time from presentation to delivery was 24.5 h. An inverse relation was observed between gestational age at presentation and admission–delivery interval (group A: 74.7 h, group B: 21.0 h, group C: 14.0 h,p < 0.001). Conclusion: Gestational age at presentation is inversely related to admission–delivery interval in women with tPTL and intact membranes. [ABSTRACT FROM PUBLISHER]

Objective: The objective of this study is to evaluate the association between birth weight centiles and the risk of intrapartum compromise and adverse neonatal outcomes in term pregnancies.Methods: Retrospective study of 32 468 term singleton births at a major tertiary maternity hospital in Australia. Data comprised gestation, mode, and indication for delivery and adverse perinatal outcomes. Fetal sex and gestational age-specific birth weight centiles were the main exposure variable.Results: Neonates <21st birth weight centile had an increased risk of intrapartum compromise, the highest risk was in babies <3rd centile (OR 4.04, 95% CI 3.34-4.89). The risk of adverse perinatal outcomes was increased in neonates <21st and >91st birth weight centiles. The highest risk was in those <3rd centile (OR 2.35, 95% CI 2.00-2.75).Conclusions: Fetal size measurements near term may be used as part of screening test for identifying fetuses at an increased risk of intrapartum compromise and adverse perinatal outcomes. [ABSTRACT FROM AUTHOR]

Purpose: To describe a population choosing to continue their pregnancy despite a severe fetal abnormality and to evaluate the role of antenatal neonatology consultation in perinatal decision-making. Methods: A 10-year (2005-2015) retrospective descriptive study in a single Multidisciplinary Prenatal Diagnosis Center in South France. A series of pregnancies with severe fetal abnormalities were collected by a person outside the decision making process and/or the child's care. Results: Thirty-nine pregnancies were included, among which 12 couples chose the perinatal palliative care. In total, there were 25 live births (10 later died, with median of survival of 52.5 h [16-943.5]); only five infants received a palliative care plan at birth. Conclusion: The choice to continue a pregnancy diagnosed with severe fetal pathology is on the rise in France. Treatment options point to standardize perinatal palliative care provided by trained perinatal professionals using standardized practices. [ABSTRACT FROM AUTHOR]

Objective: To quantify cell free fetal DNA (cffDNA) with fetal specific epigenetic marker, hypermethylatedRASSF1A, in maternal plasma of normal pregnant women from 20 weeks of gestation and to assess its relationship with maternal age, height, pre-pregnancy weight and body mass index (BMI). Methods: Hundred normal pregnant women within the gestational age of 21–40 weeks were randomly selected and grouped into five (n = 20). Group 1: 21–24, Group 2: 25–28, Group 3: 29–32, Group 4: 33–36 and Group 5: 37–40 weeks. Maternal plasma DNA was extracted, digested with methylation-sensitive restriction enzyme, BstUI and the fetal specific DNA (cffDNA) was quantified by Real-time polymerase chain reaction (qRT-PCR). Results: The mean hypermethylatedRASSF1Aconcentrations in different gestational groups were Group 1: 30.1 ± 14.9, Group 2: 52.6 ± 22.18, Group 3: 93.2 ± 19.08, Group 4: 172.8 ± 26.81 and Group 5: 337.8 ± 52.9 copies/ml. Pearson’s correlation analysis showed highly significant positive correlation between cffDNA and gestational age (r = 0.899,p < 0.001). BMI was also found to be positively related to cffDNA (r = 0.217,p < 0.05). However, it did not show any correlation with maternal age, height and pre-pregnancy weight. Conclusions: The gestational age-dependent increase of hypermethylatedRASSF1A;the fetal specific epigenetic marker in maternal plasma was demonstrated, in an Indian study group of normal pregnant women. Findings would form the basis of future studies involving pregnancy complications that would aid in the early diagnosis of placental pathologies with hypermethylatedRASSF1A. [ABSTRACT FROM PUBLISHER]

Objective: The aim of this study was to validate noninvasive prenatal testing (NIPT) for fetal aneuploidies by whole-genome massively parallel sequencing (MPS).Methods: MPS was performed on cell-free DNA (cfDNA) isolated from maternal plasma in two groups: a first set of 186 euploid samples and a second set of 195 samples enriched of aneuploid cases (n = 69); digital PCR for fetal fraction (FF) assessment was performed on 178/381 samples. Cases with <10 × 106 reads (n = 54) were excluded for downstream data analysis. Follow-up data (invasive testing results or neonatal information) were available for all samples. Performances in terms of specificity/sensitivity and Z-score distributions were evaluated.Results: All positive samples for trisomy 21 (T21) (n = 43), trisomy 18 (T18) (n = 6) and trisomy 13 (T13) (n = 7) were correctly identified (sensitivity: 99.9%); 5 false positive results were reported: 3 for T21 (specificity = 98.9%) and 2 for T13 (specificity = 99.4%). Besides FF, total cfDNA concentration seems another important parameter for MPS, since it influences the number of reads.Conclusions: The overall test accuracy allowed us introducing NIPT for T21, T18 and T13 as a clinical service for pregnant women after 10 + 4 weeks of gestation. Sex chromosome aneuploidy assessment needs further validation due to the limited number of aneuploid cases in this study. [ABSTRACT FROM AUTHOR]

Objective: To determine the incidence of pregnancy in liver transplant (LT) patients in a large population-based cohort and to determine the maternal and fetal risks associated with these pregnancies. Methods: We conducted an age-matched cohort study using the US Healthcare and Utilization project–Nationwide Inpatient Sample from 2003–2011. We used unconditional logistic regression, adjusted for baseline characteristics, to estimate the likelihood of common obstetric complications in the LT group compared with age-matched nontransplant patients. Results: There were 7 288 712 deliveries and an estimated incidence of 2.1 LTs/100 000 deliveries over the nine-year study period. LT patients had higher rates of maternal complications including hypertensive disorders (OR 6.5, 95% CI: 4.4–9.5), gestational diabetes (OR 1.9, 95% CI: 1.0–3.5), anemia (OR 3.2, 95% CI: 2.1–4.9), thrombocytopenia (OR 27.5, 95% CI: 12.7–59.8) and genitourinary tract infections (OR 4.2, 95% CI: 1.8–9.8). Deliveries among women with LT had higher risks of cesarean section (OR 2.9, 95% CI: 2.0–4.1), postpartum hemorrhage (OR 3.2, 95% CI: 1.7–6.2) and blood transfusion (OR 18.7, 95% CI: 8.5–41.0). Fetal complications in LT patients included preterm delivery (OR 4.7, 95% CI: 3.2–7.0), intrauterine growth restriction (OR 4.1, 95% CI: 2.1–7.7) and congenital anomalies (OR 6.0, 95% CI: 1.1–32.0). Conclusion: Although pregnancies in LT recipients are feasible, they are associated with a high rate of maternal and fetal morbidities. Close antenatal surveillance is recommended. [ABSTRACT FROM PUBLISHER]

Objective: Rubella virus infection during the first trimester of pregnancy can cause congenital rubella syndrome (CRS). We aimed to describe the abnormalities in order to define the ultrasound features to look for when performing prenatal scans. The goal of this review is to focus specifically on the signs of CRS accessible to prenatal diagnosis.Methods: We analyzed every case of CRS described before and/or after birth that we identified in the Pubmed database and classified them as accessible or not to prenatal diagnosis.Results: The most frequently reported malformations accessible to prenatal diagnosis were: cardiac septal defects, pulmonary artery stenosis, microcephaly, cataract, microphtalmia, and hepatosplenomegaly.Conclusion: This extensive literature review shows that the ultrasound features of CRS are not well known, even though rubella was the first teratogenic virus described. This review will help clinicians in the management of rubella during pregnancy by clarifying the findings to be sought. [ABSTRACT FROM AUTHOR]

Objectives: Gastroschisis is a common abdominal wall defect. While most neonates have an excellent prognosis, complications do occur. Several risk factors for adverse neonatal outcomes have been identified, however, the impact of intrauterine growth restriction (IUGR) and oligohydramnios on neonatal morbidity and mortality has not been fully elucidated.Methods: In this retrospective cohort study of pregnancies complicated by gastroschisis at two tertiary-care centers during an eight-year period, maternal, fetal and neonatal data were analyzed to estimate the impact of IUGR and oligohydramnios upon neonatal outcomes. Adverse outcomes were defined as five-minute Apgar score <7, umbilical cord pH <7.12, neonatal sepsis, prolonged ventilator support, prolonged total parenteral nutrition, extended NICU stay, death and a composite of the above.Results: Among the 179 cases of gastroschisis, there were no differences in maternal demographics between cases with and without IUGR or oligohydramnios. Fetuses with oligohydramnios demonstrated a trend toward lower birthweight (p = 0.06). Small for gestational age infants showed a trend toward prolonged ventilator support (p = 0.06). Oligohydramnios and IUGR were otherwise not associated with adverse neonatal outcomes.Conclusions: While risk factors for adverse neonatal outcomes have been identified in pregnancies complicated by gastroschisis, IUGR and oligohydramnios do not appear to be among them. [ABSTRACT FROM AUTHOR]

Objective: To examine the delivery indication (maternal or fetal) for patients with preterm preeclampsia and assess whether disease characteristics at presentation are predictive of delivery indication.Methods: We conducted a retrospective cohort study at a tertiary hospital in Melbourne, Australia (Mercy Hospital for Women). We assessed indication for delivery for participants presenting with preeclampsia from 23(+0) to 32(+6) weeks gestation. We compared baseline disease characteristics, disease features at delivery and postnatal outcomes between those delivered for maternal or fetal indications, or for both maternal and fetal indications.Results: Two hundred sixty six participants presented with preterm preeclampsia and 108 were eligible for inclusion in our study. More participants were delivered for maternal indications at 65.7% compared to those requiring delivery on fetal grounds at 19.4% or for both indications at 14.8% (p < 0.0001). Maternal disease characteristics at presentation were similar between groups; however, there was a higher proportion of growth restriction and abnormal Dopplers among those delivered on fetal grounds. Participants delivered on maternal grounds gained less gestation, had higher blood pressure and higher incidence of abnormal liver function tests than those delivering for fetal indications at delivery.Conclusion: Participants with preterm preeclampsia were predominantly delivered due to maternal disease progression compared to fetal compromise. [ABSTRACT FROM AUTHOR]

Objective: To evaluate prenatal predictors of postnatal survival in fetuses with agenesis of ductus venosus (ADV).Methods: This retrospective study reviewed our experience and the literature between 1991 and 2015. Prenatal findings were evaluated and perinatal morbidity and mortality was documented.Results: A total of 259 cases were included in the present analysis from our centers and 49 published studies (15 patients from our retrospective cohort review and 244 from literature review). The intrahepatic and extrahepatic shunts were present in 32.0% (73/226) and 67.7% (153/226), respectively. Cardiomegaly (n = 64/259, 24.7%), hydrops (n = 31/259, 12.0%) and amniotic fluid abnormalities (n = 22/259, 8.5%) were among the most frequent initial ultrasound findings. One hundred and forty-seven fetuses (56.8%) had ADV without structural anomalies while 112 (43.2%) had associated anomalies (cardiac anomalies (n = 66), extra-cardiac anomalies (n = 19) and both cardiac and extra-cardiac anomalies (n = 27)). The mean gestational age (GA) at ultrasound diagnosis was 22.9 ± 6.9 weeks while the mean GA at delivery was 34 ± 7.5 weeks. The overall neonatal survival was 57.1% (n = 148/259). The following factors were associated with survival: advanced maternal age, earlier GA at diagnosis, prematurity, increased nuchal translucency, pericardial effusion, associated cardiac defects (especially AVSD), chromosomal abnormalities, hydrops, hygroma and limb anomalies.Conclusion: Fetal hydrops, the presence of associated congenital anomalies and premature delivery are associated with poor prognosis in fetuses with ADV. [ABSTRACT FROM AUTHOR]

Objective: The purpose of this study was to describe the fetal/neonatal cytomegalovirus (CMV) status according to chorionicity and outcome in twin pregnancies diagnosed with CMV.Methods: An opportunistic diagnosis of CMV infection was performed in a tertiary referral center. All cases diagnosed in twin pregnancies (2006-2011) were included. Prenatal diagnosis was performed by CMV-DNA in the amniotic fluid (AF) of both fetuses only on the evidence of sonographic findings in either one or both twins. Neonatal screening was selectively assessed in symptomatic newborns, preterm, and infants born to HIV-infected mothers. Congenital infection was considered in the presence of CMV-DNA in AF, fetal tissues or newborn urine within the first 2 weeks of life, and symptomatic disease with clinical findings at birth or autopsy.Results: A total of six twin pregnancies with congenital CMV infection were diagnosed, five dichorionic and one monochorionic diamniotic. Only one sibling was infected among dichorionic pregnancies, two diagnosed prenatally, and three after birth. In the monochorionic pregnancy, the diagnosis was performed prenatally and the two fetuses were infected and severely damaged.Conclusions: Congenital CMV infection in twins might be related, among other factors, to chorionicity, and in DC twins a non-concordant infection can be expected. [ABSTRACT FROM AUTHOR]

Objective: This study aims to assess whether the fraction of cell-free fetal DNA (cffDNA) is different at 24 h or 7 days after chorionic villus sampling (CVS), compared to subjects that do not undergo CVS.Methods: Pregnant women undergoing CVS for genetic testing and matched subjects undergoing first trimester combined screening alone were enrolled between 11(0/7) and 13(6/7) weeks gestation. The fractions of cffDNA were compared before the procedure, 24 h after and 7 days after between CVS patients and ultrasound-only patients.Results: Forty-five women underwent CVS and 45 had ultrasound alone. The women undergoing CVS were, on average, older (36.8 years versus 28.5 years, p=0.001) and had a higher baseline fraction of cffDNA than women in the comparison group (11.4% versus 9.8%, p=0.033). Both groups had a decrease in the mean fraction of cffDNA after 24 h. After 7 days, the trend of the mean fraction of cffDNA continued to decline in the CVS group but began to trend toward an increase in the ultrasound only group.Conclusions: CVS does not significantly increase the fraction of cell free fetal (placental) DNA in the maternal plasma. A downward trend in cffDNA in maternal plasma is seen at 24 h and 7 days following CVS compared to baseline. [ABSTRACT FROM AUTHOR]

Objective: The increased prevalence of adverse effects of altered thyroid functions in pregnancy inspired us to study the frequency of subclinical hypothyroidism (SCH) and the relationship with glycaemic control and foetal weight in pregnant females with and without gestational diabetes mellitus (GDM) in Pakistani population.Patients and Methods: Five hundred and eight pregnant females were enrolled and grouped as per the International Diabetes Association criteria into GDM (n = 208) and healthy control (n = 300). Random blood glucose (RBG), thyroid function tests, anthropometric analysis and foetal ultra sound scans were performed on all study subjects. Data were analysed using Mann-Whitney U test and Chi-square test wherever applicable. Spearman correlation and multiple regression analysis were performed. p values of <0.05 was considered significant.Results: A total of 61.5% GDM subjects depicted SCH with normal circulating T4 and T3 versus 6.0% healthy controls (p-value < 0.001). Moreover, TSH remained independently associated with RBG (r = 0.109; p < 0.05), poor glycaemic control (r = 0.227; p < 0.001) and negatively associated with foetal growth (r = -0.206; p < 0.001).Conclusion: The detection of high TSH with normal T3 and T4 in females with GDM strongly emphasises the need of thyroid screening as a routine in all antenatal clinics. [ABSTRACT FROM AUTHOR]

Objective: The purpose of this study was to investigate the effect of diurnal variation on biochemical results of first trimester aneuploidy screening test.Methods: A total of 2725 singleton pregnant female, who had normal fetal nuchal translucency (NT) thickness, were included in the study during this period. Individuals were divided into two groups according to the sampling time (morning group: 09:00-11:00 am and afternoon group: 02:00-04:00 pm). Hormonal parameters (free-beta human chorionic gonadotropin [free β-hCG] and pregnancy-associated plasma protein-A [PAPP-A] multiples of median [MoM] levels) of first trimester (11(+0)-13(+6) weeks) combined aneuploidy screening test were compared between morning and afternoon groups.Results: PAPP-A MoM levels were significantly lower in the afternoon group when compared to the morning group (p = 0.001), whereas free β-hCG MoM levels were similar in the both groups (p = 0.392). Rate of high risk for Down syndrome (Combine risk >1/300) and amniocentesis ratio were found higher in the afternoon group than morning group, but there were no difference between groups for the number of fetuses with Down syndrome.Conclusion: Receiving the venous blood sample for first trimester aneuploidy screening test in the afternoon causes low PAPP-A MoM levels. [ABSTRACT FROM AUTHOR]

Objective: To compare characteristics and outcomes of women diagnosed with gestational diabetes mellitus (GDM) by the newer one-step glucose tolerance test and those diagnosed with the traditional two-step method. Research design and methods: This was a retrospective cohort study of women with GDM who delivered in 2010–2011. Data are reported as proportion or median (interquartile range) and were compared using a Chi-square, Fisher's exact or Wilcoxon rank sum test based on data type. Results: Of 235 women with GDM, 55.7% were diagnosed using the two-step method and 44.3% with the one-step method. The groups had similar demographics and GDM risk factors. The two-step method group was diagnosed with GDM one week later [27.0 (24.0–29.0) weeks versus 26.0 (24.0–28.0 weeks);p = 0.13]. The groups had similar median weight gain per week before diagnosis. After diagnosis, women in the one-step method group had significantly higher median weight gain per week [0.67 pounds/week (0.31–1.0) versus 0.56 pounds/week (0.15–0.89);p = 0.047]. In the one-step method group more women had suspected macrosomia (11.7% versus 5.3%,p = 0.07) and more neonates had a birth weight >4000 g (13.6% versus 7.5%,p = 0.13); however, these differences were not statistically significant. Other pregnancy and neonatal complications were similar. Conclusions: Women diagnosed with the one-step method gained more weight per week after GDM diagnosis and had a non-statistically significant increased risk for suspected macrosomia. Our data suggest the one-step method identifies women with at least equally high risk as the two-step method. [ABSTRACT FROM PUBLISHER]

We explored the strategies of prenatal diagnosis by foetal karyotype analysis in pregnant women with indications for genetic amniocentesis. Karyotype analysis of amniotic fluid was performed on 12365 pregnant women with indications for genetic amniocentesis. The detection rates and distributions of abnormal karyotypes were observed in a variety of indications for genetic amniocentesis. The detection rates of abnormal karyotype were 57.4% in either a mother or father with chromosomal abnormality, 8.5% in the pregnant women with pathological ultrasound finding (PUF), 2.79% in the pregnant women with advanced age (35 years and over) and 2.23% in the women with abnormal maternal serum screening (MSS) tests. Foetal abnormal karyotype was found in 86 pregnant women with PUF; of the 86 pregnant women, 42 had trisomy 13, 18 or 21. Of the 12365 pregnant women, foetal abnormal karyotype was found in 428 (3.46%); of the 428 foetuses, only 154 had trisomy 13, 18 or 21. In the pregnant women with abnormal MSS, 111 foetuses had abnormal karyotype, but only 36 foetuses had trisomy 13, 18 or 21. We conclude that (1) ultrasound is an important approach to prevent the birth of foetuses with chromosomal disease. (2) Non-invasive prenatal DNA detection cannot completely replace invasive prenatal diagnosis and MSS. (3) The strategies of prenatal diagnosis: Genetic amniocentesis is strongly recommended for the pregnant women with indications for genetic amniocentesis. For pregnant women who refuse invasive prenatal diagnosis, non-invasive prenatal DNA detection is first performed. If the results of non-invasive prenatal DNA detection are negative, the pregnant women are followed up by ultrasound; if the results of non-invasive prenatal DNA detection are positive, the pregnant women should undergo invasive prenatal diagnosis. [ABSTRACT FROM AUTHOR]

Fetal goiter is an extremely rare complication of pregnancy. Its incidence is 1 in 40 000 deliveries. Antithyroid maternal therapy is responsible for 10–15% of fetal congenital hypothyroidism and can be considered as the most frequent underlying cause for this condition. The frequency of fetal goiter that is associated with fetal hypothyroidism and normal maternal thyroid function, as in our case, is even less frequent. Fetal goiter is associated with increased rate of perinatal complications and long-term morbidity, due to peripartum complications including labor dystocia due to its mass effect, as well as neonatal airway obstruction that may lead to hypoxic-ischemic brain injury and death. We present, in this study, a case report of late antenatal fetal goiter in an euthyroid woman and a literature review of the diagnosis and treatment of these cases. [ABSTRACT FROM PUBLISHER]

The article presents a case study of a 24-year-old woman who was initially assessed at nine weeks of gestation in Early Pregnancy Clinic for managing the early threat of miscarriage. Topics mention including the mosaic karyotype of two cell lines, partial hydatidiform molar pregnancy and bulky cystic placenta.

Objective: To evaluate the prevalence and consequences of late antenatal booking (13 or more weeks gestation) in a national observational study of pregnant women with HIV. Methods: The clinical and demographic characteristics associated with late booking were evaluated in univariate analyses using the Mann-Whitney U test for quantitative data and the chi-square test for categorical data. The associations that were found were re-evaluated in multivariable logistic regression models. Main outcomes were preterm delivery, low birthweight, nonelective cesarean section, birth defects, undetectable (<50 copies/mL) HIV plasma viral load at third trimester, delivery complications, and gender-adjusted and gestational age-adjusted Z scores for birthweight. Results: Rate of late booking among 1,643 pregnancies was 32.9%. This condition was associated with younger age, African provenance, diagnosis of HIV during pregnancy, and less antiretroviral exposure. Undetectable HIV RNA at third trimester and preterm delivery were significantly more prevalent with earlier booking (67.1% vs 46.3%, P < .001, and 23.2% vs 17.6, P = .010, respectively), whereas complications of delivery were more common with late booking (8.2% vs 5.0%, P = .013). Multivariable analyses confirmed an independent role of late book-ing in predicting detectable HIV RNA at third trimester (adjusted odds ratio [AOR], 1.7; 95% CI, 1.3-2.3; P < .001) and delivery complications (AOR, 1.8; 95% CI, 1.2-2.8; P = .005). Conclusions: Late antenatal booking was associated with detectable HIV RNA in late pregnancy and with complications of delivery. Measures should be taken to ensure an earlier entry into antenatal care, particularly for African women, and to facilitate access to counselling and antenatal services. These measures can significantly improve pregnancy management and reduce morbidity and complications in pregnant women with HIV. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the feasibility of live xPlane imaging visualizing the in-plane view of IVS in the screening of the fetal conotruncal anomalies. Method: One hundred and fifty-two consecutive normal singleton fetuses and forty-eight fetal cardiac defects (27 conotruncal and 21 non-conotruncal cases), were enrolled in this study. The in-plane view of IVS was firstly acquired with live xPlane imaging and then judged whether it is normal or not by one operator. The focus was put on observing the relationship of pulmonary artery and aorta. The comparison between conotruncal and non-conotruncal anomalies in demonstrating the relationship of pulmonary artery and aorta was performed. Result: There were 27 cases of conotruncal anomalies enrolled in this study and 19 cases (70.4%) had the abnormal relationship of aorta and pulmonary artery in the in-plane view of IVS. In 21 cases of non-conotruncal CHDs, however, there were only 5 cases (23.8%) had the abnormal relationship in the in-plane view of IVS ( p < 0.001). Conclusion: Live xPlane imaging of the in-plane view of IVS is feasible to detect the fetal conotruncal anomalies, which may potentially be a useful tool for the non-experienced operators to screen the fetal conotruncal anomalies. [ABSTRACT FROM AUTHOR]

Prune-belly syndrome (PBS) is a rare congenital syndrome characterized by deficient abdominal muscles, urinary tract malformation, and in males, cryptorchidism and has an estimated incidence of 1 in 35,000 to 1 in 50,000 live births. The syndrome might be due to severe bladder outlet obstruction or to abdominal muscle deficiency secondary to a migrational defect of the lateral mesoblast between weeks 6 and 7 of pregnancy. The current review of the medical record reports a special focus on epidemiology, genetic factors, early prenatal diagnosis clusters, treatment, and prognosis of PBS. [ABSTRACT FROM AUTHOR]

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder that is caused by degeneration of α motor neurons in the spinal cord anterior horns. This degeneration can lead to progressive atrophy of proximal muscles, weakness, respiratory failure and death in severe cases. SMA is the most common neuromuscular disease of childhood and one of the main causes of infant death, with no cure in sight. This review highlights the impact of the disease in families, summarizes genetics and ultrasound advances, discusses how obstetricians can work towards its early detection and explores the options for reproductive planning. [ABSTRACT FROM AUTHOR]

Objective: To describe pregnancies with severe fetal heart defects (CHD) with respect to perinatal complications and management. To discuss epigenetic factors with respect to maternal body mass index (BMI) and assisted reproduction treatment (ART). Methods: We performed a retrospective analysis in a single centre for prenatal diagnostics. Data were collected with respect to pre- and postnatal diagnoses of CHD, preterm labour and deliveries, maternal risk factors and postnatal outcome. Results: Between 2009 and 2011 we treated 116 patients with severe fetal heart defects. Prenatal diagnoses were: Hypoplastic left heart syndrome (HLHS) in 50 fetuses (43.1%), conotruncal heart defects (CTM) in 43 (37.1%), atrial ventricular septal defects in eight cases (7.8%).There were 11 (9.9%) twin pregnancies. Premature labour occurred in 11.2%, premature deliveries 12.9%. Nine pregnancies (7.8%) were achieved by assisted reproduction treatment (ART). A body mass index (BMI) > 25 occurred in 54.3% with 3% morbid obesity. Advanced maternal age >35 was found in 33.5%. Accuracy of the prenatal diagnosis was 97%. Conclusions: Patients with ART pregnancies may be referred to fetal echocardiography. Maternal obesity poses a diagnostic problem, the incidence of CTM may be higher due to epigenetic factors. This requires further studies. As premature labour and delivery is a frequent complication, perinatal management of these pregnancies must be reserved to specialized centers. [ABSTRACT FROM AUTHOR]

Objective: Delayed postpartum preeclampsia is a poorly studied disorder. We compared new onset delayed postpartum preeclampsia (NOPP) to recurrent/persistent, delayed onset postpartum preeclampsia (RPP) to see whether these were different disorders. Methods: Delayed onset preeclampsia was defined as readmission >2 days to ≤6 weeks postpartum for preeclampsia. The NOPP group had no antecedent diagnosis of hypertensive disorders in the current pregnancy, and was compared to the RPP defined as a prior hypertensive disorder in the current pregnancy in terms of maternal demographics, obstetric and medical history, intrapartum and early postpartum course and clinical signs and symptoms and outcomes on postpartum readmission. Results: There were a total of 56 (36.8%) patients in the RPP and 96 (63.2%) patients in the NOPP groups. NOPP cases delivered significantly later 39.0 ± 2 weeks vs. 37 ± 3.0 weeks p < 0.001, and had significantly lower blood pressure during the antepartum, early postpartum and readmission periods. In addition the NOPP group had significantly higher average number of symptoms 2 vs. 1.5 p = 0.013 on postpartum readmission. There were no statistically significant differences in the rates of major complications. Conclusions: In this comprehensive study of delayed postpartum preeclampsia, there were few significant differences in the clinical course and no differences in complications in the NOPP subgroup compared to cases with preeclampsia recurring in the late postpartum period. [ABSTRACT FROM AUTHOR]