Comparison of Efficiencies of Non-invasive Prenatal Testing, Karyotyping, and Chromosomal Micro-Array for Diagnosing Fetal Chromosomal Anomalies in the Second and Third Trimesters.

In this study, we aimed to compare the efficiency of non-invasive prenatal testing (NIPT), karyotyping, and chromosomal micro-array (CMA) for the diagnosis of fetal chromosomal anomalies in the second and third trimesters. Pregnant women, who underwent amniocenteses for prenatal genetic diagnoses during their middle and late trimesters, were recruited at the Prenatal Diagnosis Center of Taizhou City. Maternal blood was separated for NIPT, and amniotic fluid cells were cultured for karyotyping and CMA. The diagnostic efficiency of NIPT for detecting fetal imbalanced anomalies was compared with karyotyping and CMA. A total of 69 fetal chromosomal imbalances were confirmed by CMA, 37 were diagnosed by NIPT and 35 were found by karyotyping. The sensitivities of NIPT and karyotyping for diagnosing aneuploidy were 96.3% and 100% respectively. Only one mosaic sexual chromosome monosomy was misdiagnosed by NIPT, whereas the sensitivity of NIPT and karyotyping was 70% and 30%, respectively, for detecting pathogenic deletions and duplications sized from 5-20 Mb. Taken together, our results suggest that the efficiency of NIPT was similar to the formula karyotyping for detecting chromosome imbalance in the second and third trimesters.

Is hepatitis B virus transmitted via the male germ line? A seroepidemiological study in fetuses.

OBJECTIVES: To detect father-to-fetus transmission of hepatitis B virus (HBV) in utero. METHODS: We conducted a study at the prenatal diagnosis center of Taizhou City. Fetuses with one or both parents carrying the hepatitis B surface antigen (HBsAg) were identified before genetic testing during the period 2008-2010. Intrauterine samples were obtained by amniocentesis or cordocentesis and tested for serological markers and by quantitative DNA assays. All neonates received combined hepatitis B immunoprophylaxis after delivery, and serological follow-up tests were performed at 1 year of age. RESULTS: Of the 407 couples enrolled in the study, HBV was carried by fathers only in 164, and none of their fetuses were found to be HBV DNA-positive in utero. All fetal serological markers were found to be of maternal but not paternal origin. The response rate to postnatal vaccination was 98.6%, and none of the children who failed immunoprophylaxis were the offspring of the HBV carrier fathers. CONCLUSIONS: The infection of fetuses with HBV from the spermatozoa of carrier fathers seems unlikely, especially in an area where pre-conception hepatitis B vaccination is routinely provided.

Does hepatitis B virus prenatal transmission result in postnatal immunoprophylaxis failure?

The objective of this work was to evaluate whether postnatal hepatitis B immunization failure in children is caused by prenatal infections. A prospective study was conducted from October 2006 to September 2008. Fetal samples from HBsAg-positive mothers were retrieved by either amniocentesis or cordocentesis (percutaneous umbilical blood sampling [PUBS]). Hepatitis B virus (HBV) serologic markers (HBVM) and quantitative HBV DNA assays were performed to assess prenatal infection. All neonates were given combined HBV immunoprophylaxis after delivery. The newborns were followed up with HBV serologic testing at 1 year old. For the 252 pregnant women recruited, 16 fetuses were found to be HBV DNA positive, with all HBV DNA levels under 10(4) copies/ml. HBsAg and HBV DNA detected in the uterus were uncommon and were expressed at low levels. In contract to the case with prenatal statuses, neonatal serologies were more similar to their mothers'. The response rate of vaccination was 95%. Six children for whom immunoprophylaxis failed were born to HBeAg-positive mothers with high HBV DNA levels (>10(8) copies/ml), but only one of them was found to be positive for intrauterine HBV DNA (8.5 × 10(2) copies/ml). The presence of intrauterine hepatitis B antigen and DNA does not indicate postnatal HBV infection and vaccination failure.