Non-invasive first-trimester detection of paternal beta-globin gene mutations and polymorphisms as predictors of thalassemia risk at chorionic villous sampling.

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 carried out cell-free fetal DNA analysis in 37 couples in whom only the father was an IVSI-110 carrier.

Fulminant sepsis after invasive prenatal diagnosis.

Background: Sepsis is extremely rare after invasive prenatal diagnosis.

Case: A patient, who had undergone amniocentesis at 15 weeks, cordocentesis at 20 weeks, and repeat cordocentesis 24 hours before presentation, was admitted at 21 weeks gestation with vaginal bleeding, rupture of membranes, and intrauterine demise. Although clinical and laboratory findings were unremarkable at presentation, she rapidly developed septic syndrome with disseminated intravascular coagulation and eventually multiple organ failure.

Amniotic fluid glucose at the time of genetic amniocentesis: correlation with duration of pregnancy and birthweight.

Objective: To test whether amniotic fluid (AF) glucose levels in 15-18 weeks of pregnancy can predict birthweight and duration of pregnancy.

Study Design: In this prospective study, 66 non-diabetic pregnant women underwent amniocentesis between 15 and 18 weeks of pregnancy and glucose levels were measured immediately by using the enzymatic method of hexocinase. They were all followed up and delivered in our department and neognological parameters were recorded.