OBJECTIVE To measure test accuracy of non-invasive prenatal testing (NIPT) for Down, Edwards and Patau syndromes using cell-free fetal DNA and identify factors affecting accuracy. DESIGN Systematic review and meta-analysis of published studies. DATA SOURCES PubMed, Ovid Medline, Ovid Embase and the Cochrane Library published from 1997 to 9 February 2015, followed by weekly autoalerts until ...

This article examines the regulation of screening fetal abnormalities in France before and after implementation new technique non-invasive prenatal testing (NIPT) 2013. In addition, this evaluates effectiveness regulatory framework addressing ethical social issues raised by from a legal sociological perspective. The analysis reveals that regulations, consistent with applied to other techniques,...

Abstract Background Non-invasive prenatal testing (NIPT) is a rapidly developing and widely used method in the screening. Recently, widespread use of NIPT caused neglecting limitations this technology. Case presentation The 38-year-old woman underwent amniocentesis because high risk trisomy 2 revealed by genome-wide Non-Invasive Prenatal Test (NIPT). invasive diagnosis mosaicism for small super...

OBJECTIVE In this study, we expanded conventional cell-free fetal DNA (cfDNA)-based non-invasive prenatal testing (NIPT) to cover the entire genome. We aimed to compare the performance of the two tests in a large general population of pregnant women, in order to assess the clinical utility of the genome-wide screening. METHOD Genome-wide cfDNA analysis was offered to 12 114 pregnant women und...

With the discovery of existing circulating cell-free fetal DNA (ccffDNA) in maternal plasma and the advent of next-generation sequencing (NGS) technology, there is substantial hope that prenatal diagnosis will become a predominately non-invasive process in the future. At the moment, non-invasive prenatal testing (NIPT) is available for high-risk pregnancies with significant better sensitivity a...

In the near future developments in non-invasive prenatal testing (NIPT) may soon provide couples with the opportunity to test for and diagnose a much broader range of heritable and congenital conditions than has previously been possible. Inevitably, this has prompted much ethical debate on the possible implications of NIPT for providing couples with opportunities for reproductive choice by way ...

Noninvasive prenatal testing (NIPT) using whole genome and targeted sequencing has become increasingly accepted for clinical detection of Trisomy 21 and sex chromosome aneuploidies. Few studies have shown that sub-chromosomal deletions or duplications associated with genetic syndromes can also be detected in the fetus noninvasively. There are still limitations on these methodologies such as the...

Résumé Abstract Le test prénatal non-invasif (TPNI) reposant sur l’utilisation de l’ADN fœtal libre (cffDNA) dans le sang maternel a été introduit dans la pratique clinique dans de nombreux pays, incluant le Canada. Ce test peut être effectué tôt durant la grossesse pour détecter le syndrome de Down ainsi que d’autres conditions. Bien que le TPNI promette de nombreux avantages, il comporte auss...