Very early prenatal diagnosis of genetic diseases based on coelomic fluid analysis: a feasibility study.

Background: Coelocentesis may represent the ideal technique for very early prenatal diagnosis. Although cell density in coelomic fluid (CF) is very low, the results of analyses on the cellular compartment have been proposed for prenatal diagnosis.

Methods And Results: We aimed to evaluate the amount of total DNA (i.

Fetal RhD genotyping by maternal serum analysis: a two-year experience.

Objective: The purpose of this study was to determine the accuracy of the none-invasive prenatal determination of polymerase chain reaction (PCR)-based fetal RhD genotyping.

Study Design: A prospective case series was undertaken on all RhD-negative pregnant women presenting for genetic counseling in our prenatal diagnosis center from January 2001 until December 2002. Results were compared with serologic RhD typing of the newborns.

Cytomegalovirus (CMV) glycoprotein B genotype and CMV DNA load in the amniotic fluid of infected fetuses.

Objective: To assess the value of both cytomegalovirus (CMV) DNA quantification in amniotic fluid (AF) and CMV glycoprotein B (gB) genotype as prognostic factors in CMV congenital infection.

Methods: Quantification of CMV DNA was performed prospectively by real-time PCR and gB genotypes were analysed by gene sequencing analysis in the amniotic fluid of 42 fetuses infected by CMV. These were correlated with clinical data on fetal anomalies and outcome.

Chimeric LNA/DNA probes as a detection system for real-time PCR.

Objective: Evaluation of the use of short probes as a detection system in real-time PCR.

Design And Method: Comparison of results obtained with hybridization probes with and without locked nucleic acid (LNA) residues in the detection of fetal DNA in maternal serum.

Results: The use of chimeric LNA/DNA probes led to a slight but significantly higher level of sensitivity as well as a higher level of fluorescence signal.

Circulating cell-free fetal DNA in maternal serum appears to originate from cyto- and syncytio-trophoblastic cells. Case report.

Circulating cell-free fetal DNA in maternal serum offers an early and non-invasive method for prenatal diagnosis, but the origin of this DNA is still unknown. We report the absence of the SRY gene in maternal serum of a pregnant woman despite male genitalia at ultrasound. The karyotype was 45,X after direct trophoblast analysis and 45,X/46,Xidic(Yp) after culture and in all fetal tissues studied.