Noninvasive prenatal diagnosis of genetic diseases induced by triplet repeat expansion by linked read haplotyping and Bayesian approach.

The field of noninvasive prenatal diagnosis (NIPD) has undergone significant progress over the last decade. Direct haplotyping has been successfully applied for NIPD of few single-gene disorders. However, technical issues remain for triplet-repeat expansions.

Termination of pregnancy for foetal indication in the French context analysis of decision-making in a Multidisciplinary Centre For Prenatal Diagnosis.

Objective: In France, termination of pregnancy (TOP) for medical reasons is legal, regardless of the term, after authorisation by a Multidisciplinary Centre for Prenatal Diagnosis (MCPD). This study analyses the elements supporting the TOP decision-making process faced with a foetal pathology.

Study Design: Medical records of one MCPD were analysed for the period 2013 and 2014 and semi-structured interviews with MCPD members were conducted.

Single Circulating Fetal Trophoblastic Cells Eligible for Non Invasive Prenatal Diagnosis: the Exception Rather than the Rule.

Non-Invasive Prenatal Diagnosis (NIPD), based on the analysis of circulating cell-free fetal DNA (cff-DNA), is successfully implemented for an increasing number of monogenic diseases. However, technical issues related to cff-DNA characteristics remain, and not all mutations can be screened with this method, particularly triplet expansion mutations that frequently concern prenatal diagnosis requests. The objective of this study was to develop an approach to isolate and analyze Circulating Trophoblastic Fetal Cells (CFTCs) for NIPD of monogenic diseases caused by triplet repeat expansion or point mutations.

Evaluation of a new balloon for fetal endoscopic tracheal occlusion in the nonhuman primate model.

Objective: We developed a new balloon called "Smart-TO," which allows noninvasive and easy unplugging, thanks to a magnetic valve actuated by the magnetic fringe field of a magnetic resonance imaging (MRI) scanner. The objective of this feasibility study was to evaluate the operation of this new balloon in a nonhuman primate model.

Methods: Four pregnant rhesus monkeys underwent fetal endoscopic tracheal occlusion using the "Smart-TO" balloon.

Experimental fetal endoscopic tracheal occlusion in rhesus and cynomolgus monkeys: nonhuman primate models.

Objective: The monkey model is the best model to investigate some physiological response to the fetal transitory tracheal occlusion but it has never been described in Macaca monkeys. The aim of this study was to evaluate the feasibility of fetal endoscopic tracheal occlusion (FETO) in a non-human primate model.

Methods: Pregnant rhesus monkeys and cynomolgus were tested as a potential experimental model for FETO in the third trimester of pregnancy, by performing fetal tracheoscopies with and without tracheal occlusion.