OBJECTIVES To evaluate the impact of prenatal screening and genetic testing for trisomy 21 (T21) on the prevalence of T21 in Slovenia. DESIGN AND SETTING Data about all prenatally and postnatally confirmed cases of T21 in Slovenia between 1981 and 2012 were collected retrospectively from all genetic laboratories in Slovenia. The expected number of babies with T21 according to maternal age was...

There is a common perception that fetal blood remains separated from maternal blood until third stage of labor or following abortion, inversion of placenta etc and only IgG can cross the placental barrier due to its small molecular weight. However, recent observations suggest that the placental barrier is not as impermeable as is traditionally known. This is because fetal DNA has been detected ...

OBJECTIVE To evaluate the association of maternal age with occurrence of fetal chromosomal abnormalities in Korean pregnant women of advanced maternal age (AMA). METHODS A retrospective review of the amniocentesis or chorionic villous sampling (CVS) database at Gangnam and Bundang CHA Medical Centers, between January 2001 and February 2012, was conducted. This study analyzed the incidence of ...

Fetal heart rate, umbilical artery pulsatility index, end-diastolic flow, nuchal translucency thickness and placental thickness were recorded in 250 women with a viable singleton pregnancy undergoing chorionic villous sampling for fetal karyotyping at 11-14 weeks of gestation. The fetal karyotype was normal in 210 cases and abnormal in 40, including 21 with trisomy 21, 13 with trisomy 18, three...

INTRODUCTION To evaluate the performance of first trimester nuchal translucency scan screening among pregnant women in Nigeria. METHODS A prospective observational and questionnaire based study involving 510 pregnant women between 11(+0) and 13(+6) weeks. Routine counselling and nuchal translucency measurement was conducted using the FMF, London guidelines. Chorionic villous sampling was done...

OBJECTIVE The objective was to evaluate the beta-globin gene mutations and polymorphisms in cell-free fetal DNA in the early first trimester (7-9th weeks' gestation) for the prediction of thalassemia risk at chorionic villous sampling (CVS). STUDY DESIGN Beta-globin gene mutations and polymorphisms were analyzed in 97 carrier families and 100 control couples. Using conventional PCR-DGGE we ca...

This report describes the trends of chorionic villus sampling (CVS) referred for prenatal genetic diagnosis in the past two and a half decades in a Portuguese Center. Our cohort of 491 CVS was mostly performed by the transcervical method at the 12th gestational week. Data collected within the framework of this study relate to the following: sampling method, referral reason versus abnormality an...