A pharmacogenetic-driven approach for controlled ovarian hyperstimulation by FSH treatment.

Aim: The aim of this study was to develop a pharmacogenetic- (PGx) driven approach for a controlled ovarian hyperstimulation (COH) treatment protocol used for in vitro fertilization procedures. The enrolled patients were genotyped for a single nucleotide polymorphism (SNP) N680S, within the FSHR.

Methods: Seventy-eight women, who had previously received at least two COH cycles without positive fertilization with FSH and AMH values <10 mUI/mL and >0.

Fetoplacental mosaicism: potential implications for false-positive and false-negative noninvasive prenatal screening results.

Purpose: Noninvasive prenatal screening for fetal aneuploidy analyzes cell-free fetal DNA circulating in the maternal plasma. Because cell-free fetal DNA is mainly of placental trophoblast origin, false-positive and false-negative findings may result from placental mosaicism. The aim of this study was to calculate the potential contribution of placental mosaicism in discordant results of noninvasive prenatal screening.

De novo small supernumerary marker chromosomes detected on 143,000 consecutive prenatal diagnoses: chromosomal distribution, frequencies, and characterization combining molecular cytogenetics approaches.

Objective: The risk of clinical consequences in prenatal cases with de novo small supernumerary marker chromosomes (sSMC), often in mosaic conditions, is not easy to predict, which results in difficulties in genetic counseling.

Method: In this study, we evaluated the frequency, the chromosomal origin, and the clinical indication of 104 de novo sSMC detected in a monocenter survey on the basis of 143,000 consecutive prenatal diagnoses, and we assessed the reliability of molecular cytogenetics technologies for sSMC characterization.

Results: We detected a de novo sSMC frequency of 0.

QF-PCR as a substitute for karyotyping of cytotrophoblast for the analysis of chorionic villi: advantages and limitations from a cytogenetic retrospective audit of 44,727 first-trimester prenatal diagnoses.

Objectives: Karyotyping on chorionic villous samples (CVS) includes the analysis of both cytotrophoblast (STC) and mesenchyme (LTC). This approach requires complex laboratory organization and trained technicians. The introduction of quantitative fluorescent polymerase chain reaction (QF-PCR) instead of conventional karyotyping in low-risk pregnancies opened its application in CVS analysis.