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Objective Accurate amniocentesis-related pregnancy loss (ARL) rates for twin gestations remains elusive because of varying ARL definitions in the literature. We examined how OB/GYNs define/counsel women carrying twins about ARL. Methods A random sample of 1000 American College of OB/GYN (ACOG) fellows and ACOG Collaborative Ambulatory Research Network (CARN) members were mailed surveys about their opinions/practice patterns regarding amniocentesis in twins. There were 208/400 (52%) CARN members and 166/600 (27%) ACOG fellows who returned the survey (37% response rate). Results Of respondents, 80.8% practiced general OB/GYN, and 9.1% practiced maternal fetal medicine. Of respondents, 72% discussed amniocentesis for prenatal diagnosis. Of these, 91.7% discuss the risk of ARL; however, 47.4% do not quote an ARL rate. Of those who discuss ARL rates, 65% quote a rate greater than for singletons. Regarding monochorionic–diamniotic twins, 12.1% of respondents said the ARL rate was less, 39.6% said equal to, and 38.9% said greater than for dichorionic twins. Table 1 lists the most common clinical definitions/time intervals used to describe ARL. Conclusion Various definitions/ARL rates are used when counseling about ARL in twins. Further studies using a widely accepted definition of ARL are necessary to improve the counseling of women considering amniocentesis for prenatal diagnosis in twins. © 2013 John Wiley & Sons, Ltd.

Objective Using published data, we sought to determine the amniocentesis-related loss rate in twin gestations.

OBJECTIVE: We sought to evaluate the influence of maternal body mass index (BMI) on sonographic detection employing data from the FaSTER trial. METHOD: Unselected singleton pregnancies underwent detailed genetic sonogram to evaluate for structural fetal anomalies and soft markers for aneuploidy. BMI (kg/m(2)) were calculated from reported initial visit values. Sensitivity, specificity, false positive and false negative rates (FPR and FNR), likelihood ratio, detection rates, and a missed diagnosis rate (MDR: FNR + marker recorded as 'missing'/N) were calculated. RESULTS: Eight thousand five hundred and fifty-five patients with complete BMI information had detailed genetic sonography. A lower sensitivity with an elevated FNR and MDR was observed in obese women for multiple aneuploid markers (e.g. > or =2 markers 32% sensitivity with 68% FNR among BMI 30). Similarly, the detection rate for cardiac anomalies among women at BMI

Objective The FASTER trial compared 1st and 2nd trimester screening methods for aneuploidy. We examined relationships between maternal serum markers and common congenital anomalies in the pediatric outcome data set of 36,837 subjects.

The aim of the present study was to generate different latent variables that classify the major chromosome aneuploidies using frequency and patterns of fetal sonographic abnormalities in a large database. A total of 1867 fetuses with sonographic abnormalities recorded in a database at New England Medical Center from January 1995 to March 1998 were available for the statistical analysis. Included within this group were 61 aneuploid fetuses, including 11 with 45,X, 30 with trisomy 21, 14 with trisomy 18 and 6 with trisomy 13, 40 structural malformations and/or sonographic markers were detected in these 61 aneuploid fetuses. The ability of malformations and sonographic markers to generate different groups of phenotypes was evaluated by means of latent class analysis, using the 61 affected cases. Four different classes were generated with the hypothetical assumption that each of them could satisfactorily identify a respective fetal aneuploidy represented in the study group. Among 40 fetal malformations and/or sonographic markers, the most important findings in generating specific karyotypic groups were cystic hygroma (class 1), duodenal atresia (class 2), holoprosencephaly (class 3) and omphalocele (class 4), respectively. Accuracy of the classification was 72 per cent for Turner syndrome (class 1), 74 per cent for Down syndrome (classes 1 and 2), 88 per cent for trisomy 13 (class 3) and 93 per cent for trisomy 18. The frequency of associated malformations detected sonographically can help to define a phenotype that is likely to be representative of a specific aneuploidy. Before the definitive karyotype is available or, in cases in which patients refuse an invasive prenatal diagnostic procedure, this may improve antenatal clinical management.

Unrecognized biliary tract obstruction due to choledochal cysts or biliary atresia can result in significant morbidity and mortality. Diagnosis in utero of choledochal cyst allows prompt postnatal diagnostic evaluation and appropriate surgical therapy to be instituted early in life. This may minimize the potential complications of cholangitis, cirrhosis, and liver failure in infants with choledochal cysts.

Accurate amniocentesis-related pregnancy loss (ARL) rates for twin gestations remains elusive because of varying ARL definitions in the literature. We examined how OB/GYNs define/counsel women carrying twins about ARL.A random sample of 1000 American College of OB/GYN (ACOG) fellows and ACOG Collaborative Ambulatory Research Network (CARN) members were mailed surveys about their opinions/practice patterns regarding amniocentesis in twins. There were 208/400 (52%) CARN members and 166/600 (27%) ACOG fellows who returned the survey (37% response rate).Of respondents, 80.8% practiced general OB/GYN, and 9.1% practiced maternal fetal medicine. Of respondents, 72% discussed amniocentesis for prenatal diagnosis. Of these, 91.7% discuss the risk of ARL; however, 47.4% do not quote an ARL rate. Of those who discuss ARL rates, 65% quote a rate greater than for singletons. Regarding monochorionic-diamniotic twins, 12.1% of respondents said the ARL rate was less, 39.6% said equal to, and 38.9% said greater than for dichorionic twins. Table 1 lists the most common clinical definitions/time intervals used to describe ARL.Various definitions/ARL rates are used when counseling about ARL in twins. Further studies using a widely accepted definition of ARL are necessary to improve the counseling of women considering amniocentesis for prenatal diagnosis in twins.

We sought to evaluate the influence of maternal body mass index (BMI) on sonographic detection employing data from the FaSTER trial.Unselected singleton pregnancies underwent detailed genetic sonogram to evaluate for structural fetal anomalies and soft markers for aneuploidy. BMI (kg/m(2)) were calculated from reported initial visit values. Sensitivity, specificity, false positive and false negative rates (FPR and FNR), likelihood ratio, detection rates, and a missed diagnosis rate (MDR: FNR + marker recorded as 'missing'/N) were calculated.Eight thousand five hundred and fifty-five patients with complete BMI information had detailed genetic sonography. A lower sensitivity with an elevated FNR and MDR was observed in obese women for multiple aneuploid markers (e.g.or =2 markers 32% sensitivity with 68% FNR among BMI25 vs 22% and 78% among BMI30). Similarly, the detection rate for cardiac anomalies among women at BMI25 was higher (21.6%) at a significantly lower FPR (78.4%; 95% CI 77.3-79.5%) in comparison to obese women (8.3% with FPR 91.7%; 95% CI 90.1-93.2%). In a logistic regression model, maternal obesity significantly decreased the likelihood of sonographic detection of common anomalies (adjusted OR 0.7; 95% CI 0.6-0.9; p = 0.001).The performance of second trimester genetic sonography is influenced by obesity, with a significantly higher MDR for multiple minor markers and lower likelihood for detecting common anomalies.

The FASTER trial compared first and second trimester screening methods for aneuploidy. We examined relationships between maternal serum markers and common congenital anomalies in the pediatric outcome data set of 36 837 subjects.We used nested case-control studies, with cases defined by the most common anomalies in our follow-up database, and up to four controls matched by enrollment site, maternal age and race, enrollment gestational age, and infant gender. Serum markers were dichotomized toor = 2 or0.5 multiples of the median (MoM). Odds ratios (ORs) and 95% confidence intervals (CI) were estimated.Statistically significant (p0.05) associations were found between inhibin Aor = 2 MoM with fetal multicystic dysplastic kidney (MCDK) (OR = 27.5, 95% CI: 2.8-267.7) and two-vessel cord (OR = 4.22, 95% CI:1.6-10.9); hCG ofor = 2 MoM with MCDK (OR = 19.56, 95% CI: 1.9-196.2) and hydrocele (OR = 2.48, 95% CI: 1.3-4.6); and PAPP-Aor = 2.0 MoM with hydrocele (OR = 1.88, 95% CI:1.1-3.3).In this large prospective study, significant associations were found between several maternal serum markers and congenital anomalies. This suggests potential additional benefits to screening programs that are primarily designed to detect aneuploidy.

Objective Comparison of contingent, step-wise and integrated screening policies. Methods Mid-trimester Down syndrome risks were retrospectively calculated from FaSTER trial data. For contingent screening, initial risk was calculated from ultrasound measurement of nuchal translucency (NT), maternal serum pregnancy-associated plasma protein (PAPP)-A and free β-human chorionic gonadotrophin (hCG) at 11–13 weeks, and classified positive (>1 in 30), borderline (1 in 30–1500) or negative. Borderline risks were recalculated using α-fetoprotein, hCG, unconjugated estriol (uE3) and inhibin at 15–18 weeks, and reclassified as positive (>1 in 270) or negative. For step-wise screening, initial negative risks were also recalculated. For integrated screening, a single risk was calculated from NT, PAPP-A and the second trimester markers. Results There were 86 Down syndrome and 32 269 unaffected pregancies. The detection rate for contingent screening was 91% and false-positive rate was 4.5%; initial detection rate was 60%, initial false-positive rate was 1.2% and borderline risk was 23%. Step-wise screening had 92% detection rate and 5.1% false-positive rate; integrated screening had 88% and 4.9% respectively. Conclusion As predicted by modelling, the contingent screening detection rate for a fixed false-positive rate is comparable with step-wise and integrated screening, but substantially reduces the number needing to return for second trimester testing. Copyright © 2008 John Wiley & Sons, Ltd.

Recent reports raise the possibility that in vitro fertilization (IVF) influences levels of substances that serve as screening markers for Down syndrome. The investigators evaluated information in the FASTER database to determine whether first-and second-trimester levels of Down syndrome screening markers and rates of positive screens are altered in singleton pregnancies conceived using assisted reproductive technology (ART). Marker levels, expressed as multiples of the median and corrected for race, gestational age, diabetes, and maternal weight, were estimated for 5 forms of ART: IVF with ovulation induction (IVF-OI), IVF with OI and egg donation (IVF-OI-ED), IVF with ED (IVF-ED), and intrauterine insemination with OI (IUI-OI) or without OI (IUI). The numbers of cases in the 5 ART groups were, respectively, 277, 59, 56, 323, and 247. Findings in each of these groups were compared with those in non-ART control women. With one exception-reduced levels of plasma protein A in the IUI-OI group-first-trimester marker levels did not differ significantly between ART and control pregnancies. In contrast, numerous differences were found in second-trimester marker levels. Inhibin A was increased in all ART pregnancies. Estriol levels were reduced, and human chorionic gonadotropin levels increased in IVF and IUI pregnancies without ED. In addition, alpha-fetoprotein was increased in ED pregnancies. Screen-positive rates in the second trimester were significantly higher than expected for ART pregnancies except when ED was used. First-trimester screen-positive rates for each ART group agreed with what would be expected for its maternal age distribution. The use of various forms of ART significantly influences levels of Down syndrome markers and rates of positive screen results in the second, but not in the first trimester of pregnancy. How much adjustment is needed when performing screening in the second trimester is a function of the particular type of ART used in a given case.

The natural history of fetal ureteroceles is poorly understood. We report two cases of fetal ureterocele which add to our understanding of its natural history. In both cases, the fetal ureterocele ‘resolved’ later in gestation. The postnatal findings emphasize the importance of an aggressive newborn evaluation despite apparent resolution of the ureterocele on prenatal ultrasound examination.