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Objective: The first trimester combined risk of trisomy 21 is obtained by multiplying the risk related to maternal age by the likelihood ratios of nuchal translucency, free beta‐human chorionic gonadotrophin (β‐hCG) and placenta associated plasma protein‐A. Beyond five multiples of the median (MoM) of β‐hCG, the risk of trisomy 21 is truncated. The objective of the present study was to evaluate the evolution of the first trimester combined risk of trisomy 21 in individuals with first‐trimester free‐β‐hCG levels between 5 and 10 MoM. Methods: We conducted a non‐interventional cohort study from a 6‐year database of combined first‐trimester trisomy 21 screening of all individuals who underwent the screening in a French specialized medical analysis center. We included all pregnant individuals who had a serum‐free β‐hCG between 5 and 10 MoM. Patients for whom the status of the fetus, with or without trisomy 21, was not identified by the outcome of the pregnancy or by a karyotype result were excluded from the study. The discriminatory capacity of free‐β‐hCG above 5 MoM was studied by a receiver operating characteristic curve. We used an orthogonal polynomial regression to represent the evolution of likelihood ratios according to free‐β‐hCG in MoM. Results: Among 413 216 combined first‐trimester screens of trisomy 21, 2239 (0.5%) screens met the inclusion criteria. In the selected population, 801 (35.8%) were excluded from the study because of missing fetal or neonatal status, and 46 (3.2%) fetuses out of 1438 included were diagnosed with trisomy 21. For free β‐hCG values between 5 and 10 MoM, the area under the curve is 0.56 (0.46–0.65). The scatterplot of the likelihood ratio of β‐hCG showed an increasing parabolic pattern: the likelihood of trisomy 21 increases with the free‐β‐hCG threshold. Conclusion: To override the truncated risk of trisomy 21 in case of free β‐hCG values between 5 and 10 MoM, the study has allowed us to estimate the adjusted risk of trisomy 21, enabling health professionals to offer appropriate prenatal counseling. Synopsis: Estimation of the adjusted risk of trisomy 21 in pregnant individuals with a free ß‐hCG level between 5 and 10 multiples of the median in the first trimester. [ABSTRACT FROM AUTHOR]

Objectives: The current study aimed to determine the sensitivity and specificity of ultrasound for the diagnosis of placenta accreta spectrum (PAS) in a universal screening population and assesses the added value of magnetic resonance imaging (MRI). Methods: This retrospective analysis evaluated 5219 patients with singleton pregnancies who had a standardized ultrasound (US) examination in our unit and delivered at our institution between 2014 and 2019. Results: A total of 181 (3.5%) of 5219 (100%) patients had a suspicion or diagnosis of PAS with US. The accuracy of US in detecting placenta increta/percreta showed a sensitivity of 100%, specificity of 99.9%, positive predictive value of 82.4%, and a negative predictive value of 100%. The diagnosis of all forms of PAS showed a sensitivity of 25.8%, specificity of 99.8%, positive predictive value of 80.8%, and a negative predictive value of 97.7%. MRI was concordant with US in 11 of 14 (78.5%) cases of severe forms of PAS and in three of 15 (20.0%) cases with placenta accreta. Conclusion: A standardized US evaluation can be applied in a universal screening setting for the diagnosis of severe forms of PAS. MRI is a complementary examination in severe forms of PAS but seems of limited value to discriminate placenta accreta from placenta increta/percreta. Synopsis: Ultrasound shows a high accuracy in detecting severe forms of placenta accreta spectrum such as placenta increta/percreta in a universal screening population. [ABSTRACT FROM AUTHOR]

Synopsis: Non‐invasive prenatal testing provides an early opportunity to identify patients with genotype–phenotype sex discordance and can be used to screen for complete androgen insensitivity syndrome. [ABSTRACT FROM AUTHOR]

Objectives: To define current obstetric opinion and clinical practice regarding the prenatal diagnosis of vasa previa in Australia and New Zealand.Methods: A population-based cross-sectional survey of Fellows of the Royal Australian and New Zealand College of Obstetricians and Gynaecologists was conducted from April to May, 2016. Descriptive analysis was used to define factors influencing opinion and practice regarding definition of vasa previa, attributable risk factors, and the value of screening.Results: Overall, 453 respondents were included in the study. Two-thirds (304/453; 67.1%) defined vasa previa as exposed fetal vessel(s) running over or within 2 cm of the internal os. A higher proportion of ultrasound specialists (30/65; 46.2%) preferred a broader definition as compared with generalists (115/388; 29.6%; P<0.001). Overall, Fellows were supportive (342/430; 79.5%) of both reporting ultrasound-based risk factors at the 20-week anomaly scan and targeted screening (298/430; 69.3%). Only 77/453 (17.0%) respondents recognized all five "known" risk factors for vasa previa.Conclusions: There was a lack of consensus regarding the definition and diagnosis process for vasa previa. There was also a knowledge gap in risk factors for vasa previa that would inform a targeted screening policy. Nevertheless, support for targeted screening was strong from obstetricians who responded. [ABSTRACT FROM AUTHOR]

Objective: To describe the changes in women's choices for prenatal testing after the introduction of nationwide health insurance coverage for non-invasive prenatal testing (NIPT) in Switzerland.Methods: The present retrospective study reviewed data from all women with singleton pregnancies who presented at the prenatal unit of Basel University Hospital, Switzerland, for first-trimester screening between July 15, 2014, and December 31, 2015. Women were divided into three categories according to their risk for aneuploidy, and the uptake of NIPT in the period before and after the introduction of the nationwide coverage for NIPT was compared.Results: Overall, 887 women were included in the study: 573 screens were carried out before (group 1) and 314 after (group 2) the introduction of insurance coverage for NIPT. In group 1, 53 (9.2%) had NIPT as compared with 72 (22.9%) in group 2. Among women with intermediate risk for aneuploidies and basic insurance coverage, NIPT increased by 56% (12/88 [14%] vs 32/46 [70%]; P<0.001).Conclusion: There was a notable increase in the uptake of NIPT; uptake was most significant among women with basic health insurance and intermediate risk for aneuploidy. [ABSTRACT FROM AUTHOR]

Objective: To evaluate first-trimester screening protocols for detecting trisomy 21 in an Indian population.Methods: The present prospective study collected data from women with singleton pregnancies and a crown-to-rump length of 45-84 mm who presented at the fetal medicine unit of a tertiary care center in North India between June 1, 2006, and December 31, 2015, for combined first-trimester screening. Maternal age, nuchal translucency, nasal bone, and maternal serum levels of free beta human chorionic gonadotropin and pregnancy-associated plasma protein A were assessed for calculating the risk of trisomy 21. Tricuspid regurgitation and qualitative analysis of ductus venosus data were available from June 2010, and were included where available. Trisomy-21 detection rates were calculated for various screening protocols and were compared.Results: There were 4523 women screened and 24 records of trisomy 21. Combined screening with maternal age, nuchal translucency, nasal bone, tricuspid regurgitation, and ductus venosus demonstrated optimal detection and false-positive rates of 93.8% and 1.9%, respectively. Screening using only maternal age yielded a detection rate of 37.5%; using fixed nuchal translucency cut-off values of 2.5 and 3 mm resulted in detection rates of 66.7% and 37.5%, respectively.Conclusion: Combined first-trimester screening performed well in an Indian population; combining maternal age, nuchal translucency, nasal bone, ductus venosus, and tricuspid regurgitation yielded the most accurate screening. [ABSTRACT FROM AUTHOR]

Abstract: Objective: To describe 10years of experience of prenatal analysis of spinal muscular atrophy (SMA). Methods: Data were retrospectively evaluated from prenatal analysis and carrier screening among parents and close relatives between January 2003 and December 2012. Screening was done before the parents were offered prenatal diagnosis. Polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) were used to detect the most frequent homozygous deletions in the SMN1 gene in fetal samples. A commercial MLPA kit (SALSA P060) was used to analyze SMN1 copy number for carrier status determination among healthy individuals. Bayesian calculation was used to accurately assess the risk of having a child affected with SMA. Results: During the study period, 66 fetal samples from 44 Serbian families were analyzed, and 13 (19.7%) showed a homozygous deletion in the SMN1 gene. Among 28 healthy individuals, carrier status was confirmed for 16 (57.1%). For 7 couples, quantitative analyses and Bayesian calculation reduced the final risk of having a child with SMA from 1 in 200 to 1 in 2448. Conclusion: Owing to disease severity and lack of a curative treatment, prenatal diagnosis of SMA is the best way to prevent recurrence. Carrier detection allows accurate risk assessment and appropriate genetic counseling for all family members. [Copyright &y& Elsevier]

Objective: To assess the usefulness of triple-marker screening for Down syndrome in Venezuela.Method: Maternal serum concentrations of alpha fetoprotein (AFP), beta human chorionic gonadotropin (beta-hCG), and unconjugated estriol (uE3) were measured weekly in 3895 women from the 15th to the 20th week of pregnancy. Population-specific likelihood ratios were determined and used to calculate the risk of fetal Down syndrome for each pregnancy.Results: The median multiple of the median values for AFP, beta-hCG, and uE3 concentrations were 0.69, 2.10, and 0.67 for the affected pregnancies. The likelihood ratio for a positive result was 1:19. The detection and false-positive rates were 69.23% and 5.8%.Conclusion: These findings were consistent with reported data and therefore confirmed triple-marker serum screening as effective and suitable for prenatal care in Venezuela. Latin American governments and Health Agencies should recommend offering this screening method to all pregnant women. [ABSTRACT FROM AUTHOR]

Objectives: To compare the usefulness of a lamellar body count, a fluorescence polarization assay, and the foam stability index for predicting neonatal lung maturity in high-risk pregnancies.Setting: This study was conducted at the Department of Obstetrics and Gynecology and the Department of Pediatrics, Assiut University Hospital.Design: A prospective clinical trail.Subjects and Methods: This study was performed after recruiting 73 pregnant women, 52 with high-risk pregnancies (25 had diabetes and 27 had premature labor) and 21 with a healthy full-term singleton pregnancy as controls. All women were delivered in the Department of Obstetrics and Gynecology of Assiut University Hospital. The newborns with respiratory distress syndrome (RDS) were admitted in the neonatal intensive care unit of the Department of Pediatrics. Amniotic fluid specimens were obtained near delivery. Apgar score, vital signs, anthropometric data, and complete clinical examination results were available for all newborns, and particular emphasis was placed on signs of RDS.Results: The incidence of RDS was 44.2% in the newborns of women who had experienced a high-risk pregnancy (of these, 82.6% were born preterm and 17.4% to diabetic mothers). We found that a lamellar body count is a good screening test for predicting neonatal lung maturity. It is as good as the fetal lung maturity assay by fluorescence polarization in some respects and better in others; moreover, it is better than the foam stability index test in all respects. A lamellar body count with cutoffs of 41 x 10(3)/microL and 18 x 10(3)/microL was a good predictor of low and high risks of RDS in newborns. Values between 19 x 10(3)/microL and 40 x 10(3)/microL were the best to predict an intermediate risk of RDS.Conclusion: Lamellar body count is a good screening test for predicting the degree of neonatal lung maturity. [ABSTRACT FROM AUTHOR]

In contrast with advances made in treating or eliminating many other serious disorders, severe morbidity and mortality associated with pre-eclampsia/eclampsia remain among the leading problems that threaten safe motherhood, particularly in developing countries. This article reviews technical issues related to diagnosis, screening, prevention, and treatment of pre-eclampsia and identifies corresponding needs. The authors stress the lack of standardized definitions of pre-eclampsia and eclampsia and discuss problems in blood-pressure measurements and assessment of urinary protein. They summarize the evidence for prevention strategies and screening tests for early detection. For treatment, magnesium sulfate has been proven effective, but not widely used. The authors outline priorities for narrowing the identified gaps and emphasize the need for coordinated efforts to reduce the morbidity and mortality due to pre-eclampsia/eclampsia. They conclude that the mystery of this disease must be resolved to achieve primary prevention of it. [Copyright &y& Elsevier]

Among patients with pregnancies considered at‐risk for Down syndrome undergoing non‐invasive prenatal testing, preferring extended reports was associated with greater education and knowledge of testing. [ABSTRACT FROM AUTHOR]