Search

Objectives: Our aim was to assess the accuracy of a simplified fetal cardiac study, inclusive of four-chamber view (4CV) and ventricular outflow tracts, performed during the 11-14 week screening by well-trained obstetricians to detect congenital heart diseases (CHDs)., Methods: A transabdominal ultrasound was performed on 4820 singleton pregnant women at 11-14 weeks to visualize the visceral site, the 4CV, and the outflow tracts. Neonatal outcomes were recorded 6 and 12 months after birth., Results: Among the 4820 patients reviewed, 790 were excluded because of loss at prenatal or postnatal follow-up (649 cases), or inability to obtain adequate first-trimester sonographic cardiac evaluation (141 cases). Among the 4030 included cases, 32 CHD cases were detected (20 major and 12 minor); 18 of the major (90%) and five of the minor (42%) were detected or suspected in the first trimester, one major and six minor in the second trimester, and one major and one minor only after birth., Conclusions: A simplified protocol is an effective tool to screen for CHD at 11-14 weeks., (© 2014 John Wiley & Sons, Ltd.)

Objective: To evaluate the effect of in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) on free beta-human chorionic gonadotrophin (beta-hCG), pregnancy-associated plasma protein A (PAPP-A) and nuchal translucency (NT)., Methods: First trimester maternal dried whole blood specimens from 74 singleton pregnancies (32 by IVF and 42 by ICSI) and 30 twin pregnancies (16 by IVF and 14 by ICSI) in which conception was achieved with assisted reproduction techniques were matched with five controls resulting in 370 singleton controls and 150 twin controls. NT was measured using the Fetal Medicine Foundation protocol. Free beta-hCG, PAPP-A and NT levels were compared between the IVF and control groups and between the ICSI and control groups using the Mann-Whitney U test., Results: In singleton pregnancies, the only significant difference was a 21% (95% CI: -35%--7%) reduction in PAPP-A in IVF cases. In twin pregnancies, the only significant difference was a 12% (95% CI: -34%--3%) reduction in NT in IVF cases. In singleton pregnancies, the false-positive rate for Down syndrome screening was 1.4% and 1.9% greater for the IVF and ICSI groups, respectively, compared to controls for a general screening population., Conclusions: Patients undergoing assisted reproduction techniques should be counseled about the possibility of increased false-positive rates. Larger studies are needed to confirm this observation and to develop appropriate adjustment factors to reduce false-positive rates., (Copyright 2002 John Wiley & Sons, Ltd.)

Prenatal diagnosis of haemoglobin disorders is accepted to be a useful procedure to avoid births of infants with homozygous diseases. Advances in sampling and molecular techniques, such as polymerase chain reaction (PCR) and chorionic villus sampling (CVS), have made earlier and safer first-trimester prenatal diagnosis possible. However, these procedures need previous studies of at-risk couples, which can be very time-consuming when a number of different beta-thalassaemia mutations occur in the region. We describe the possibility of making a first-trimester prenatal diagnosis by cordocentesis and fetal blood analysis at the 12th week of gestation. We found no statistically significant difference (p greater than 0.05) between beta/gamma values in fetuses at the 12th and 18th weeks of gestation. In seven affected fetuses aborted at the 12th week of gestation, the diagnosis was confirmed in all cases by PCR analysis. These findings suggest that early cordocentesis could be an alternative procedure to CVS and PCR analysis.