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.

Detection and quantification of Mycoplasma genitalium in male patients with urethritis.

Detection and quantification of Mycoplasma genitalium were evaluated in 83 patients with urethritis (group 1), 60 patients with urethral symptoms but no urethritis (group 2), and 50 asymptomatic men (group 3). Quantification of M. genitalium was carried out using real-time polymerase chain reaction (PCR) analysis of first-pass urine samples.

Comparison of two DNA targets for the diagnosis of Toxoplasmosis by real-time PCR using fluorescence resonance energy transfer hybridization probes.

Background: Toxoplasmosis is an infectious disease caused by the parasitic protozoan Toxoplasma gondii. It is endemic worldwide and, depending on the geographic location, 15 to 85% of the human population are asymptomatically infected. Routine diagnosis is based on serology.

Fetal DNA in maternal serum: does it persist after pregnancy?

Fetal DNA and cells present in maternal blood have previously been used for non-invasive prenatal diagnosis. However, some fetal cells can persist in maternal blood after a previous pregnancy. Fetal rhesus status and sex determination have been performed by using amplification by real-time polymerase chain reaction (PCR) of fetal DNA sequences present in maternal circulation; no false-positive results related to persistent fetal DNA from a previous pregnancy have been reported.

Fetal RHD genotyping in maternal serum during the first trimester of pregnancy.

Fetal RHD genotype determination is useful in the management of sensitized RhD-negative pregnant women. It can be ascertained early during pregnancy by chorionic villus sampling (CVS) or amniocentesis. However, these procedures are invasive, resulting both in an increased risk of fetal loss and in an increased severity of immunization due to fetomaternal haemorrhage.

Clinical applications of fetal sex determination in maternal blood in a preimplantation genetic diagnosis centre.

Background: Couples with a risk of transmitting X-linked diseases who are included in a preimplantation genetic diagnosis (PGD) programme need early and rapid fetal sex determination in two situations. The first situation is for the control of embryo sexing after PGD and the second situation is for those couples having a spontaneous pregnancy before the start of their PGD cycle. Among invasive techniques, chorionic villus sampling is the earliest procedure for fetal sex determination and molecular analysis of X-linked genetic disorders during the first trimester but it is associated with a risk of fetal loss.