Search

Background: Duplications of the long arm of chromosome 3 are rare, and associated to a well-defined contiguous gene syndrome known as partial trisomy 3q syndrome. It has been first described in 1966 by Falek et al., and since then around 100 patients have been reported. Clinical manifestations include characteristic facial dysmorphic features, microcephaly, hirsutism, congenital heart disease, genitourinary anomalies, hand and feet abnormalities, growth disturbances and intellectual disability. Most of cases are due to unbalanced translocations, inherited from a parent carrying a balanced aberration (reciprocal translocation or inversion), and rarely the genomic anomaly arises de novo. Very few studies report on the prenatal identification of such rearrangements. Case presentation: Hereby, we report on a newborn with a rare pure duplication of the long arm of chromosome 3. Noninvasive prenatal test (cell free fetal DNA analysis on maternal blood), performed for advanced parental age and use of assisted reproductive technique, evidenced a partial 3q trisomy. Then, invasive cytogenetic (standard and molecular) investigations, carried out through amniocentesis, confirmed and defined a 3q27.1-q29 duplication spanning 10.9 Mb, and including about 80 genes. Our patient showed clinical findings (typical facial dysmorphic features, esotropia, short neck, atrial septal defect, hepatomegaly, mild motor delay) compatible with partial trisomy 3q syndrome diagnosis, in addition to pre- and postnatal overgrowth. Conclusions: Advanced parental age increases the probability of chromosomal and/or genomic anomalies, while ART that of epigenomic defects. Both conditions, thus, deserve more careful prenatal monitoring and screening/diagnostic investigations. Among the latter, cell free fetal DNA testing can detect large segmental aneuploidies, along with chromosomal abnormalities. It identified in our patient a wide 3q rearrangement, then confirmed and defined through invasive molecular cytogenetic analysis. Neonatologists and pediatricians must be aware of the potential risks associated to duplication syndromes. Therefore, they should offer to affected subjects an adequate management and early and careful follow-up. These may be able to guarantee to patients satisfactory growth and development profiles, prevent and/or limit neurodevelopmental disorders, and timely recognition of complications. [ABSTRACT FROM AUTHOR]

Objectives: To assess the risk gradient of chromosomal abnormalities and fetal or neonatal death across a socioeconomic spectrum of pregnant women. Methods: We used the data from the Korean Prenatal Diagnosis Study (KPDS), which included singleton pregnancies who were candidates for fetal aneuploidy screening enrolled from the Seoul Capital Area from December 2016 to April 2018. We analyzed chromosomal abnormalities which were diagnosed pre- or postnatally, and fetal or neonatal death. The highest level of education among the women and the average monthly household income were used as proxies for socioeconomic status. Results: Among the 6,715 women, the majority of were 30–39 years old and university graduates, with a reported household income higher than the national median. Chromosomal abnormalities occurred in 45 women (6.7 per 1,000). Fetal or neonatal death occurred in 70 (11.3 per 1,000), excluding pregnancies affected by chromosomal abnormality diagnosis. The adjusted odds ratio for chromosomal abnormalities was higher when household income was < 4,484 USD per month. For fetal or neonatal death, the risk estimates for lower education and lower household income were generally positive but remained imprecise. Conclusion: We observed some evidence of an inverse association between the risk of fetal chromosomal abnormality and level of household income in a prospective cohort of pregnant women. Interventions to reduce socioeconomic disparities in perinatal health should focus on those with a low household income. [ABSTRACT FROM AUTHOR]

By implementation of non-invasive prenatal testing (NIPT) for the diagnosis of Down syndrome (DS) in maternity care, an ethical debate is newly inflamed how to deal with this information. Fears of the consequences of an increased use of NIPT are justified with the same arguments when amniocentesis and preimplantation genetic diagnosis (PGD) were introduced decades ago. It can be expected that the prevalence of people with DS would significantly increase in Western societies as a result of the increasing age of pregnant women and the improved medical care for people with DS. The net effect as to whether an increasing uptake of NIPT will result in more abortions of fetuses with trisomy 21 cannot be reliably estimated. This holds true since more and more couples will use results of NIPT for information only, but will not opt for termination of pregnancy. Although parents love their children with DS, in a society where reproductive autonomy is seen as an achievement, access to NIPT cannot be limited. On this background, comprehensive and qualified pretest counseling is vital, also to avoid possible stigmatization of people with DS and as the resulting consequence to avoid feared deterioration in their living conditions, for which, however, there is no evidence to date. The personal view of a mother of a child with DS illustrates the complexity in dealing with NIPT, which does not allow simple answers and must be understood as a challenge for society as a whole. [ABSTRACT FROM AUTHOR]

Background: Ontario is 1 of 5 provinces that immunize adolescents for hepatitis B virus (HBV), despite the World Health Organization recommendation for universal birth dose vaccination. One rationale for not vaccinating at birth is that universal prenatal screening and related interventions prevent vertical transmission. The aims of our study were to evaluate the uptake and epidemiology of prenatal HBV screening, and to determine the number of children in Ontario with a diagnosis of HBV before adolescent vaccination.Methods: We extracted data from ICES, Public Health Ontario and Better Outcomes & Registry Network (BORN) Ontario databases. We assessed prenatal screening uptake and prevalence of prenatal hepatitis B surface antigen (HBsAg) from 2012 to 2016, as well as subsequent hepatitis B e-antigen (HBeAg) and HBV DNA testing and percent positivity. We used age and region to subcategorize the results. In a separate unlinked analysis, we evaluated the number of children positive for HBV aged 0-11 years who were born in Ontario from 2003 to 2013.Results: From 2012 to 2016, 93% of pregnant women were screened for HBV, with an HBsAg prevalence of 0.6%. Prevalence of HBsAg increased with age, peaking at older than 45 years at 3%. North Toronto had the highest overall prevalence of 1.5%, whereas northern Ontario had the lowest. Of women who were HBsAg positive, HBeAg and HBV DNA tests were subsequently ordered in 13% and 38%, respectively. Of children born in Ontario between 2003 and 2013, 139 of 23 759 tested positive for HBV.Interpretation: Prenatal HBV screening is not universal and subsequent evaluation is poor, limiting optimal intervention and possibly contributing to some Ontario-born children being given a diagnosis of HBV before age 12 years. These findings underscore the limitations of the province's adolescent vaccination strategy. [ABSTRACT FROM AUTHOR]

Objective: Serum pregnancy-associated plasma protein-A (PAPP-A) and placental growth factor (PlGF) at 11-13 weeks' gestation are reduced in pregnancies with fetal trisomy and in those that subsequently develop pre-eclampsia (PE). In screening for trisomy, the established biochemical marker is PAPP-A, whereas in screening for PE, the preferred marker is PlGF. The objective of this study was to examine the impact of replacing PAPP-A by PlGF in first-trimester screening for trisomies 21, 18 and 13 by maternal age, fetal nuchal translucency thickness (NT) and free β-human chorionic gonadotropin (β-hCG).Methods: This was a prospective screening study in singleton pregnancies for trisomies 21, 18 and 13 by a combination of maternal age, fetal NT and serum PAPP-A and free β-hCG at 11-13 weeks' gestation in which we also measured PlGF. Multiples of the median (MoM) values were calculated for PAPP-A, free β-hCG and PlGF. The dataset was split randomly into training and test datasets of roughly equal size, and the parameters for PlGF obtained from the training dataset were used in risk calculation for the test dataset. Standardized detection rates were computed by obtaining the likelihood ratios for biochemistry and fetal NT for trisomy-21, -18 and -13 pregnancies in the sample and then applying these to each year of maternal age from 12 to 50 to estimate the age-specific detection rates. These were then weighted according to the maternal age distributions of trisomy-21, -18 and -13 pregnancies in England and Wales in 2018. Similarly, standardized false-positive rates (FPR) were computed by obtaining the likelihood ratios for biochemistry and NT, as appropriate, in normal pregnancies in the sample and then applying these to each year of maternal age from 12 to 50 to estimate the age-specific FPRs. A modeling approach was used to assess the performance of screening according to gestational age at biochemical testing.Results: The study population of 71 266 pregnancies included 70 858 (99.4%) with normal fetal karyotype or birth of a phenotypically normal neonate and 263 with trisomy 21, 109 with trisomy 18 and 36 with trisomy 13. There are five main findings of this study. First, the performance of screening for trisomy by the first-trimester combined test or the combined test in which PAPP-A is replaced by PlGF is substantially better at 11 than at 13 weeks' gestation; for example, the detection rates of trisomy 21 by the combined test were 94%, 90% and 84%, at 5% FPR, when testing was carried out at 11, 12 and 13 weeks, respectively, and the corresponding values in screening by a test in which PAPP-A is replaced by PlGF were 90%, 87% and 86%, respectively. Second, in trisomy-21 pregnancies, the deviation of median PAPP-A MoM from normal decreases with increasing gestational age, whereas the deviation in PlGF does not change with gestational age. Third, the performance of screening for trisomy 21 during the 11th and 12th gestational weeks is superior if screening includes PAPP-A rather than PlGF, whereas during the 13th week the performance is slightly higher with the use of PlGF rather than PAPP-A. Fourth, in our population with mean gestational age at testing of 12.7 weeks, screening by maternal age, fetal NT, serum free β-hCG and serum PAPP-A predicted 88%, 96% and 97% of cases of fetal trisomies 21, 18 and 13, respectively, at a FPR of 5%; the respective values in screening by a test in which PAPP-A is replaced by PlGF were 85%, 96% and 96%. Fifth, addition of serum PlGF does not improve the prediction of trisomy provided by maternal age, fetal NT and serum free β-hCG and PAPP-A.Conclusion: In first-trimester screening for trisomy, the preferred biochemical marker is PAPP-A rather than PlGF, especially when biochemical testing is carried out during the 11th week of gestation or earlier. However, if PlGF was to be used rather than PAPP-A, the same detection rate can be achieved but at a higher FPR. This may be an acceptable compromise to minimize cost and achieve effective screening for both trisomy and PE. © 2020 International Society of Ultrasound in Obstetrics and Gynecology. [ABSTRACT FROM AUTHOR]

Background: Obstetric imaging, subserving fetal evaluation, may yield incidental maternal findings. Based on prenatal magnetic resonance (MR) imaging, this study aims to investigate incidental intervertebral disc degeneration and displacement in young, pregnant women. Methods: This retrospective study included the sagittal 1.5 Tesla, T2-weighted lumbar spine images of 943 pregnant Central Europeans (age range, 18–47 years), who initially had undergone MR imaging because of sonographically suspected fetal abnormalities. Qualitatively, 4715 lumbar intervertebral discs were evaluated for degeneration using a modified Pfirrmann MR classification (nondegenerated, low-grade, moderate, and high-grade degeneration), as well as for displacement. In addition to descriptive statistics, an ordinal regression analysis was performed to analyze the relationship between degeneration and the women’s age, and body weight. Results: With regard to the highest degree of degeneration in each woman, 578 (61.3%) showed low-grade, 211 (22.4%) moderate, and 154 (16.3%) high-grade degeneration, and no woman had entirely nondegenerated discs. For the span from 18 to 47 years of age, moderate and high-grade degeneration increased from 6.7% to 36.7% and from 13.3% to 22.4%, respectively. Of 943 women, 57 (6%) had disc displacements, of which 97% were in conjunction with high-grade degeneration. There was a statistically significant relationship (p<0.001) between degeneration and age, and between degeneration and body weight. Conclusions: In young pregnant women, lumbar intervertebral disc degeneration is a ubiquitous, incidental finding, increasing from the late second decade of life onward, which may be part of physiological aging, as opposed to a small percentage of incidental disc displacements. [ABSTRACT FROM AUTHOR]

Objective  We sought to evaluate whether antenatal depression was associated with postpartum visit nonattendance. Study Design  This retrospective cohort study included women who received prenatal care at the academic outpatient offices of a single tertiary care center between March 1, 2009, and December 31, 2014. Women were screened for antenatal depression using the Patient Health Questionnaire-9. Attendance at the postpartum visit was compared between women with and without antenatal depressive symptomatology using bivariate and multivariable analyses. Results  Of the 2,870 women who met the inclusion criteria, 566 (19.7%) did not attend the postpartum visit. Women who did not attend a postpartum visit were younger and more likely to be a racial/ethnic minority, publicly insured, or multiparous; they were more likely to have a higher body mass index, as well as a vaginal delivery. Compared with those without antenatal depressive symptomatology, women with antenatal depressive symptomatology were significantly less likely to attend their postpartum visit (18.6 vs. 29.2%, p  < 0.001). This association persisted even after controlling for potential confounders (adjusted odds ratio: 0.69, 95% confidence interval: 0.48–0.99). Conclusion  Antenatal depressive symptomatology is significantly associated with nonattendance at the postpartum visit. [ABSTRACT FROM AUTHOR]

Objective: To determine whether a personalized iterative venous thromboembolism (VTE) risk score improved preventive prophylaxis during pregnancy and puerperium.Methods: An observational retrospective comparative study was conducted at single French hospital. Women who gave birth from February 1 to April 30, 2012 (n=557) or from February 1 to April 30, 2015 (n=512) underwent VTE risk assessment. The VTE risk score comprised known risk factors for this condition.Results: Use of the VTE risk score at the first consultation increased the likelihood of appropriate treatment (odds ratio [OR] 1.5, 95% confidence interval [CI] 1.2-1.9; P=0.002) and reduced the risk of undertreatment (OR 0.5, 95% CI 0.4-0.7; P<0.001). During hospitalization and puerperium, the VTE risk score increased the likelihood of appropriate treatment. The ORs were 6.2 (95% CI 2.1-18.9; P<0.001) and 5.4 (95% CI 4.1-7.2; P<0.001), respectively. The risk of undertreatment was also reduced at these time points.Conclusion: Use of the VTE risk score increased the number of appropriately treated patients during pregnancy and puerperium. [ABSTRACT FROM AUTHOR]

The records of women attending a large Australian regional hospital for antenatal care were retrospectively analysed to determine what proportion had undergone or been offered first trimester screening for fetal abnormalities; only 609 (54%) of 1114 women had undergone or been offered screening. Younger women, multiparous women and women living in rural Australia were less likely to be offered screening. Barriers to screening and solutions for overcoming these need to be identified to improve access and equality in antenatal screening for all women. [ABSTRACT FROM AUTHOR]

Aim:  Despite advances of outcomes of esophageal atresia (EA), knowledge on patients' health-related quality of life (HRQoL) is sparse. Due to the heterogeneity of EA, larger cohorts need to be investigated to ensure reliability of data. Aim was to determine generic HRQoL after EA repair in a Swedish-German cohort.Patients and Methods:  Ethical approval was obtained. A total of 192 patients (2-18 years; 134 Swedish; 58 German) were included. Clinical data were reviewed. EA was classified in "severe" and "mild/moderate." Pediatric Quality of Life Inventory 4.0 Generic Core Scale (PedsQL 4.0) was used in appropriate versions (2-7 years; 8-18 years; self- [SR] and proxy report [PR]) to determine generic HRQoL.Results:  Swedish and German samples were clinically and demographically comparable. HRQoL was lower in "severe EA" versus "mild/moderate" (2-18 years; total score; PR 85.6 vs. 73.6; p < 0.001) and Gross A versus Gross C type EA (2-7 years; total score; PR 61.0 vs. 79.3; p = 0.035). Total HRQoL was higher in the Swedish versus German sample (2-18 years; total score; PR 82.3 vs. 72.7; p = 0.002). HRQoL was impaired in the German sample versus healthy population (2-18 years; total score; PR 72.7 vs. 82.7; p = 0.001). In German patients (8-18 years), HRQoL was higher in SR versus PR (80.7 vs. 74.7; p = 0.044). Patients' age and presence of VACTERL association or isolated anorectal malformations did not affect HRQoL. Various differences were detected regarding different dimensions of PedsQL 4.0.Conclusion:  In this first international study, we found several differences in perception of generic HRQoL. HRQoL appears to be determined by the type of EA and severity rather than patients' age or the presence of typical associated malformations. Country-specific differences may be culturally dependent, but further investigations are suggested. A condition-specific instrument validated for EA may provide additional insights. [ABSTRACT FROM AUTHOR]

Aim: This study aims to establish a convenient and practical predelivery scoring system for trial of labor after cesarean section (TOLAC). Methods: The data of 498 patients undergoing TOLAC were retrospectively studied. Indices with statistically significant differences, including cervical score, fetal weight, fetal pelvic index, body mass index and age, were selected. Combined with the presence of vaginal delivery history and indications of the previous cesarean section in these patients, three prenatal forecast scales for vaginal birth after cesarean (VBAC) were established. The receiver operating characteristic curve was drawn, and the best cut‐off point was determined. Then, the areas under the curve of the three forecasting methods were compared. The scoring method with the largest area under the curve was considered the best method. Results: The six indications of cesarean section used for the forecasting scale were as follows: cervical score, fetal weight, body mass index, age, presence of vaginal delivery history and the presence of previous obstructive dystocia. The scale that had the largest area under the curve was considered the best forecasting scale. Conclusion: The prenatal forecasting method for TOLAC was preliminarily investigated. It was determined that the scale with six indicators, such as the cervical score, could be used for the prenatal evaluation of TOLAC, providing a predictive basis for the possible success of the trial production for pregnant women. The method and process of VBAC section in our hospital was safe and effective. [ABSTRACT FROM AUTHOR]

The purpose of this article is to determine the risk of schizophrenia in offspring of women exposed to x-ray radiation during pregnancy. The risk of schizophrenia was evaluated using cohort data collected in The Jerusalem Perinatal Study. The cohort of 92,408 births from 1964 to 1976 was linked to Israel’s National Psychiatric Registry of all individuals hospitalized for psychiatric conditions. Cross-tabulations were analyzed for development of schizophrenia in offspring of mothers who were exposed to an x-ray procedure during the first four months of pregnancy. Relative risks (RRs) were estimated using proportional hazards models, adjusted for male sex, paternal age, family psychiatric history, and social class. The adjusted RRs for schizophrenia spectrum associated with maternal x-rays in months 3 and 4 were, respectively, 2.97 (0.94-9.35) and 1.23 (0.39-3.87). Among 80 cases with narrowly defined schizophrenia (ICD-10 = F20) maternal x-rays in months 3 and 4 were associated, respectively, with adjusted RRs of 3.08 (0.75-12.6, based on 2 cases), and 2.04 (0.64-6.46, 3 cases). Offspring of mothers exposed to x-ray radiation during the third and fourth months of pregnancy may have an increased risk of developing schizophrenia. [ABSTRACT FROM AUTHOR]

Objective: Klinefelter syndrome (KS) is the most common (1/500-1/1000) chromosomal disorder in males, but only 10% of cases are identified in childhood. This study aimed to review the data of children with KS to assess the age and presenting symptoms for diagnosis, clinical and laboratory findings, together with the presence of comorbidities. Methods: Twenty-three KS patients were analyzed retrospectively. Age at admission, presenting symptoms, comorbid problems, height, weight, pubertal status, biochemical findings, hormone profiles, bone mineral density and karyotype were evaluated. Molecular analysis was also conducted in patients with ambiguous genitalia. Results: The median age of patients at presentation was 3.0 (0.04-16.3) years. Most of the cases were diagnosed prenatally (n=15, 65.2%). Other reasons for admission were scrotal hypospadias (n=3, 14.3%), undescended testis (n=2, 9.5%), short stature (n=1, 4.8%), isolated micropenis (n=1, 4.8%) and a speech disorder (n=1, 4.8%). The most frequent clinical findings were neurocognitive disorders, speech impairment, social and behavioral problems and undescended testes. All except two patients were prepubertal at admission. Most of the patients (n=20, 86.9%) showed the classic 47,XXY karyotype. Steroid 5 alpha-reductase 2 gene and androgen receptor gene mutations were detected in two of the three cases with genital ambiguity. Conclusion: Given the large number of underdiagnosed KS patients before adolescence, pediatricians need to be aware of the phenotypic variability of KS in childhood. Genetic analysis in KS patients may reveal mutations associated with other forms of disorders of sex development besides KS. [ABSTRACT FROM AUTHOR]

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]

Background Screening for Down syndrome ( DS) is a key component of antenatal care, recommended to be universally offered to women irrespective of age or background. Despite this, the diagnosis of DS is often not made until the neonatal period. Aims To retrospectively describe and compare the differences in populations with an antenatal diagnosis ( AD) and neonatal diagnosis ( ND) of DS and to explore why an antenatal diagnosis was not made. Materials and methods The cohorts were women cared for at Westmead Hospital whose pregnancy received a diagnosis of DS between 2006 and 2015. The demographic variables of the AD and ND cohorts were examined and reasons why an antenatal diagnosis was not made in the ND cohort were analysed. Results There were 127 diagnoses of DS in the 10-year period, of which 41% were in the ND cohort ( n = 52) and 59% in the AD ( n = 75). Declaring a religious affiliation rather than Nil Religion was significantly more common in the ND cohort (88.5%) and especially the ND sub-cohort who declined DS screening/testing (95.8%) than the AD cohort (72%, P < 0.05). Women who were not offered screening were significantly younger ( P < 0.001) than those who were, with 69% and 20% being ≤30 years, respectively. Conclusions The proportion of DS pregnancies diagnosed in the antenatal period in western Sydney could be increased by ensuring younger women are not falsely reassured that DS screening is unnecessary for them. While religious affiliation may be a factor when women decline screening, ensuring appropriate counselling remains important. [ABSTRACT FROM AUTHOR]

Background: There is considerable geographic variation in gestational diabetes mellitus (GDM) rates. We used data from two Canadian provinces, British Columbia (BC) and Alberta (AB), to determine the impact of ethnicity on GDM prevalence and neonatal outcomes.Research Design and Methods: All deliveries between 04/01/2004 and 03/31/2010 in AB (n=249,796) and BC (n=248,217) were analyzed. We calculated GDM prevalence among Chinese, South-Asian, and the general population (predominantly Caucasian) women.Results: Overall GDM prevalence was 4.8% (n=12,036) in AB and 7.2% (n=17,912) in BC. In both provinces, the prevalence of GDM was significantly higher in Chinese (AB:11%; BC:13.5%) and South Asian women (AB:8.4%;BC:13.9%) compared to the general population (AB:4.2%; BC: 5.8%). Chinese women were significantly older (AB:32.7; BC:33.0years) compared to the general population (AB:29.1; BC:30.1years). The odds of GDM relative to the general-population were 2-fold higher for South Asians in both provinces and almost 3-fold higher for Chinese in BC. Among GDM cases, compared to the general population, Chinese and South Asian infants were less likely to be LGA, more likely to be SGA, and had similar neonatal mortality rates.Conclusions: Compared to the general population, GDM prevalence is higher in Chinese and South Asian Canadians. Increased maternal age is a major contributor to higher prevalence of GDM in Chinese women. GDM rates were higher in both ethnic and general population women in BC compared to AB, suggesting that in addition to differences in ethnic distribution, differences in diagnostic practices are likely contributing to observed geographic differences in GDM prevalence. [ABSTRACT FROM AUTHOR]

Copyright of AIDS & Behavior is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Objective: To assess at-birth health outcomes of neonates with osteogenesis imperfecta (OI).Study Design: A total of 53 women who self-reported having had at least one child with OI completed the survey. We evaluated pregnancy length, neonatal intensive care unit (NICU) usage, at-birth complications, and the child's clinical information including OI type, height and weight.Results: Information was gathered on a total of 77 children (60 type I, 4 type III and 13 type IV). Health conditions reported at birth included breech presentation (24%), prematurity (27%), fracture (18%), bone deformity (18%) and respiratory problems (22%). Approximately 31% (n = 24) received NICU care. There was a significant association between younger maternal age, preterm delivery and NICU admission.Conclusion: Our findings suggest that newborns with OI appear to be at high risk of skeletal disorders, preterm delivery and breech presentation. Younger maternal age and preterm delivery seem to be strong predictors of the need for NICU care. Our data suggest that pregnant women with OI younger than 20 years of age may benefit from added clinical supervision in anticipation of adverse effects on their child. [ABSTRACT FROM AUTHOR]

Objective: To examine trends in the incidence and method of invasive prenatal diagnosis due to the impact of sequential screening and noninvasive prenatal testing.Methods: This is a retrospective review of all pregnancies that have undergone invasive prenatal diagnostic testing between June 2002 and June 2014, divided in 3 periods: period 1 from June 2002 to October 2006, period 2 from November 2006 to December 2011, and period 3 from January 2012 to June 2014. The main outcome measures were trends in the incidence and method of each procedure.Results: There were 88,135 deliveries and 6,080 invasive procedures during the study period. In period 1, 2,755 (8.8%) procedures were carried out, in period 2 2,820 (7.3%), and in period 3 505 (2.5%; p < 0.01). In period 1, there were 1,990 (6.3%) cases of amniocentesis, 1,646 (4.3%) in period 2, and 254 (1.2%) in period 3 (p < 0.01). In addition, in 765 (2.5%) cases, chorionic villus sampling (CVS) was performed in period 1, compared to 1,174 (3.0%) cases in period 2 and 251 (1.3%) cases in period 3 (p < 0.01). Advanced maternal age as the sole indication for invasive procedures decreased significantly over time, while the indication of abnormal serum screening and abnormal ultrasound findings increased (p < 0.01).Conclusion: There was a significant decline in the incidence of invasive prenatal testing over the 12 years of the study. The decrease in amniocentesis was more marked than that in CVS. [ABSTRACT FROM AUTHOR]

Aim: In this study, it was aimed to determine the problems of the neonates who were diagnosed with congenital heart disease requiring early intervention in our hospital. Material and Methods: The files of the newborn babies with congenital heart disease requiring early intervention who were admitted to the neonatal intensive care unit of our hospital between January 2011 and January 2013 were evaluated retrospectively. In all cases, echocardiography and "Score for Neonatal Acute Physiology-II" (SNAP-II) scoring were performed within the first day of admission. The data were interpreted using Number Cruncher Statistical System 2007 software. The statistical significance was set at p<0.05. Results: A total of 83 babies were included in the study. Forty six of the patients were male (55%), and 37 (45%) were female. Sixty eight percent of the patients were referred from the neighboring provinces and 32% were transferred from the centers within the city. The age range was between 0 and 28 (5.6±6.4 day) days. The SNAP-II scores upon admission ranged between 0 and 90 (mean: 20±20.3). None of the patients was diagnosed prenatally. The most common diagnoses included transposition of the great arteries (33.7%) and pulmonary atresia (19.3%). Nineteen (22%) patients were lost in the neonatal intensive care unit. There was a significant relationship between the mortality and the SNAP-II scores (p=0.0001) and use of vasopressors (p=0.004). The diagnosis, gender, use of alprostadil and age were not related to mortality. Three patients were discharged following planning of elective surgery and 60 patients were referred to a tertiary center by air ambulance. Conclusions: The results of our study indicated that prenatal diagnosis could not be made in neonates with congenital heart disease requiring intervention in our region. The mortality rates of these patients were related to the severity of the clinical status at presentation rather than to the age, gender and type of congenital heart disease. The mortality was much higher in the patients who developed circulatory failure. Most of the patients who survived were sent by air ambulance to the centers where the intervention was to be performed. [ABSTRACT FROM AUTHOR]

The article reflects on epigenetics and orofacial clefts. Topics discussed include DNA sequencing, DNA methylation, and the methylation of neonatal cord blood DNA. Also being discussed are the implications of epigenetics for clinical practice, and epigenetic biomarkers for prediction or classification.

Introduction: The study aim was to determine the frequency of prenatal ultrasound diagnosis of congenital anomalies in Newborns (NB) with birth defects hospitalized in two Neonatal Intensive Care Units (NICU) of Cali (Colombia) and to identify socio-demographic factors associated with lack of such diagnosis. Methods: It was an observational cross-sectional study. NB with congenital defects diagnosable by prenatal ultrasound (CDDPU), who were hospitalized in two neonatal intensive care units (NICU), were included in this study. A format of data collection for mothers, about prenatal ultra-sonographies, socio-demographic data and information on prenatal and definitive diagnosis of their conditions was applied. Multiple logistic and Cox regressions analyses were done. Results: Were included 173 NB, 42.8% of cases had no prenatal diagnosis of CDDPU; among them, 59.5% had no prenatal ultrasound (PNUS). Lack of PNUS was associated with maternal age, 25 to 34 years (Odds Ratio [OR]: 4.41) and 35 to 47 years (OR: 5.24), with low levels of maternal education (OR: 8.70) and with only a PNUS compared to having two or more PNUS (OR: 4.00). Mothers without health insurance tend to be delayed twice the time to access the first PNUS in comparison to mothers with payment health insurance (Hazard Ratio [HR]: 0.51). Among mothers who had PNUS, screening sensitivity of CDDPU after the 19th gestational week was 79.2%. Conclusions: The frequency of prenatal diagnosis is low and is explained by lack of PNUS, or by lack of diagnostic in the PNUS. An association between lack of PNUS and late age pregnancy and low level of maternal education was found. In addition, uninsured mothers tend to delay twice in accessing to the first PNUS in comparison to mothers with health insurance. It is necessary to establish national policies which ensure access to appropriate, timely and good quality prenatal care for all pregnant women in Colombia. [ABSTRACT FROM AUTHOR]

Objective: To describe any trends in the uptake of antenatal screening for Down's syndrome since the addition of the earlier first trimester combined test. Study Design: All antenatal screening tests for Down's syndrome were carried out and their results were recorded by the Clinical Biochemistry Department at the Hull Royal Infirmary (HRI) and reviewed against the antenatal booking data held at the Women and Children's Hospital at HRI. The uptake of antenatal Down's syndrome screening for 5 different age groups of women across a four-year-period from 2007 to 2010 was analysed. Results: There was a significant increase in uptake of antenatal screening for Down's syndrome from 43.9% to 56.5% after the introduction of the combined test in 2010. This increase was apparent in all age groups. There was no change in the proportion of women opting for an invasive test following a positive screening test. Conclusion: Addition of the earlier first trimester combined test has increased uptake of antenatal screening for Down's syndrome in women of all ages. This is most likely due to the advantages this test gives women such as earlier decision making, earlier further invasive diagnostic testing and earlier termination, if necessary. [ABSTRACT FROM AUTHOR]

We aimed to describe the prevalence of intimate partner violence (IPV) during pregnancy across 19 countries, and examine trends across age groups and UN regions. We conducted a secondary analysis of data from the Demographic and Health Surveys (20 surveys from 15 countries) and the International Violence Against Women Surveys (4 surveys from 4 countries) carried out between 1998 and 2007. Our data suggest that intimate partner violence during a pregnancy is a common experience. The prevalence of IPV during pregnancy ranged from approximately 2.0% in Australia, Cambodia, Denmark and the Philippines to 13.5% in Uganda among ever-pregnant, ever-partnered women; half of the surveys estimated prevalence to be between 3.9 and 8.7%. Prevalence appeared to be higher in African and Latin American countries relative to the European and Asian countries surveyed. In most settings, prevalence was relatively constant in the younger age groups (age 15–35), and then appeared to decline very slightly after age 35. Intimate partner violence during pregnancy is more common than some maternal health conditions routinely screened for in antenatal care. Global initiatives to reduce maternal mortality and improve maternal health must devote increased attention to violence against women, particularly violence during pregnancy. Nous souhaitions décrire la prévalence de la violence exercée sur les femmes enceintes par un partenaire intime dans 19 pays, et examiner les tendances par groupes d'âge et régions des Nations Unies. Nous avons mené une analyse secondaire des données d'enquêtes démographiques et sanitaires (20 enquêtes dans 15 pays) et d'enquêtes internationales sur la violence faite aux femmes (quatre enquêtes dans quatre pays) réalisées entre 1998 et 2007. Nos données indiquent que la violence du partenaire intime pendant la grossesse est fréquente. Sa prévalence allait d'environ 2,0% en Australie, au Cambodge, au Danemark et aux Philippines à 13,5% en Ouganda parmi les femmes ayant déjà été enceintes et ayant déjà eu un partenaire ; la moitié des enquêtes estimaient cette prévalence entre 3,9 et 8,7%. La prévalence semblait plus élevée dans les pays d'Afrique et d'Amérique latine que dans les pays d'Europe et d'Asie ayant fait l'objet des enquêtes. Dans la plupart des pays, la prévalence était relativement constante dans les groupes d'âge les plus jeunes (15–35 ans) et semblait décliner très légèrement après 35 ans. La violence du partenaire intime pendant la grossesse est plus fréquente que certaines conditions de santé maternelle qui font l'objet d'un dépistage systématique dans les consultations prénatales. Les initiatives mondiales pour réduire la mortalité maternelle et améliorer la santé maternelle doivent consacrer davantage d'attention à la violence faite aux femmes, en particulier pendant la grossesse. Nos propusimos describir la prevalencia de violencia de pareja íntima (VPI) durante el embarazo en 19 países y examinar las tendencias en diferentes grupos etarios y regiones de la ONU. Realizamos un análisis de datos secundarios de las Encuestas Demográficas y de Salud (20 encuestas de 15 países) y de las Encuestas Internacionales sobre Violencia contra las Mujeres (4 encuestas de 4 países) realizadas entre 1998 y 2007. Nuestros datos indican que la violencia de pareja íntima durante el embarazo es una experiencia común. La prevalencia de la VPI durante el embarazo varió de un 2.0% en Australia, Camboya, Dinamarca y Filipinas al 13.5% en Uganda entre mujeres alguna vez embarazadas, que alguna vez tuvieron pareja; la mitad de las encuestas calcularon una prevalencia del 3.9% al 8.7%. La prevalencia pareció ser más alta en países africanos y latinoamericanos comparada con los países europeos y asiáticos encuestados. En la mayoría de los entornos, la prevalencia era relativamente constante en los grupos más jóvenes (de 15 a 35 años) y pareció disminuir muy poco después de los 35 años de edad. La violencia de pareja íntima durante el embarazo es más común que algunos problemas de salud materna para los cuales se hacen pruebas de detección sistemática durante la atención antenatal. Las iniciativas internacionales por disminuir la tasa de mortalidad materna y mejorar la salud materna deben dedicar mayor atención a la violencia contra las mujeres, particularmente la violencia durante el embarazo. [ABSTRACT FROM AUTHOR]

Objective: To compare the efficacy and efficiency of systematic, ultrasound-based risk adjustment using a published algorithm with that of a maternal age cutoff of 37 years for the prenatal detection of chromosomal abnormalities (especially autosomal trisomies).Methods: These approaches were compared in a retrospective study of 136 chromosomal abnormalities confirmed by karyotyping prenatally (n=46) or postnatally (n=90). There were 114 autosomal trisomies.Results: Maternal age was known for 103 fetuses with confirmed abnormalities. The ultrasound-based risk adjustment approach was more sensitive for autosomal trisomy (93.9% vs 44.1%), and karyotyping for younger women with abnormalities on ultrasound was more effective than routine karyotyping in older women (1 trisomy detected in 13.5 vs 42.8 samples, P<0.001). A lack of screening was the main reason for the postnatal diagnosis.Conclusion: Ultrasound-based risk adjustment was the more effective approach. [ABSTRACT FROM AUTHOR]

Pregnancy-associated plasma protein A (PAPP-A) is a maternal serum marker of fetal chromosomal disease and a risk marker for adverse outcome. PAPP-A in the circulation exists both as a 2:2 complex (PAPP-A/proMBP) with the proform of eosinophil major basic protein (proMBP) and as dimeric PAPP-A. Non-PAPP-A containing proMBP complexes constitute the bulk of proMBP in maternal serum. We developed and characterized a sandwich enzyme immunoassay for PAPP-A using a polyclonal rabbit anti-PAPP-A/proMBP antibody (SSI 6823) and a monoclonal murine anti-PAPP-A/proMBP antibody (HYB 234-3), reactive with the PAPP-A part of PAPP-A/proMBP. The assay range was 2 mIU/L-500 mIU/L, intra- and inter-assay coefficients of variation <10%. The immunoreactivity eluted ahead of thyroglobulin, Mr 669 kDa, in gel filtration and bound to a heparin column. Serum concentrations of PAPP-A were determined in gestational weeks 5-13 in 167 pregnant women with normal fetuses and 39 women with Down's syndrome (DS) fetuses. The median PAPP-A MoM (multiples of the median in normal controls) in DS pregnancies was 0.30 (quartile range: 0.17-0.54). The PAPP-A logMoMs in DS pregnancies were normally distributed with a mean of -0.5927 and SD of 0.3639. When simulating the performance of PAPP-A and age as markers for DS in population screening a detection rate (DR) of 62% was found for a screen positive rate (SPR) of 5%. Together with beta-HCG and nuchal translucency, two other first trimester markers for fetal DS, a DR 90% could be obtained for an SPR of 5%. [ABSTRACT FROM AUTHOR]

The article discusses the role of advances in treatment in preventing autosomal recessive diseases. Some of the methods applied to prevent these diseases include intra-uterine diagnosis and subsequent abortion of affected fetuses. Moreover, the author believes that better methods will be discovered to prevent these diseases from occurring like the selection at the level of the gamete. He further emphasizes that the prevention of birth by abortion may be appropriate to avoid these diseases. As an example, he cites the diagnosis of Tay-Sachs disease in utero. If the disease is seen in the fetus, the diagnosis will be followed by abortion.

Background: The World Health Organization (WHO) adopted more stringent diagnostic criteria for GDM in 2013, to improve pregnancy outcomes. However, there is no global consensus on these new diagnostic criteria, because of limited evidence. The objective of the study was to evaluate maternal characteristics and pregnancy outcomes in two cohorts in the Netherlands applying different diagnostic criteria for GDM i.e. WHO-2013 and WHO-1999.Methods: A multicenter retrospective study involving singleton GDM pregnancies in two regions, between 2011 and 2016. Women were diagnosed according to the WHO-2013 criteria in the Deventer region (WHO-2013-cohort) and according to the WHO-1999 criteria in the Groningen region (WHO-1999-cohort). After GDM diagnosis, all women were treated equally based on the national guideline. Maternal characteristics and pregnancy outcomes were compared between the two groups.Results: In total 1386 women with GDM were included in the study. Women in the WHO-2013-cohort were older and had a higher pre-gestational body mass index. They were diagnosed earlier (24.9 [IQR 23.3-29.0] versus 27.7 [IQR 25.9-30.7] weeks, p = < 0.001) and less women were treated with additional insulin therapy (15.6% versus 43.4%, p = < 0.001). Rate of spontaneous delivery was higher in the WHO-2013-cohort (73.1% versus 67.4%, p = 0.032). The percentage large-for-gestational-age (LGA) neonates (birth weight > 90th percentile, corrected for sex, ethnicity, parity, and gestational age) was lower in the WHO-2013- cohort, but not statistical significant (16.5% versus 18.5%, p = 0.379). There were no differences between the cohorts regarding stillbirth, birth trauma, low Apgar score, and preeclampsia.Conclusions: Using the new WHO-2013 criteria resulted in an earlier GDM diagnosis, less women needed insulin treatment and more spontaneous deliveries occurred when compared to the cohort diagnosed with WHO-1999 criteria. No differences were found in adverse pregnancy outcomes. [ABSTRACT FROM AUTHOR]