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 …

Background Common fetal aneuploidies include Down syndrome (trisomy 21 or T21),
Edward syndrome (trisomy 18 or T18), Patau syndrome (trisomy 13 or T13), Turner …

This paper contains a joint ESHG/ASHG position document with recommendations
regarding responsible innovation in prenatal screening with non-invasive prenatal testing …

Objective To evaluate the clinical impact of nationwide implementation of genome‐wide non‐
invasive prenatal testing (NIPT) in pregnancies at increased risk for fetal trisomies 21, 18 …

Fetal aneuploidies are among the most common causes of miscarriages, perinatal mortality
and neurodevelopmental impairment. During the last 70 years, many efforts have been …

Two leading European professional societies, the European Society of Human Genetics and
the European Society for Human Reproduction and Embryology, have worked together …

Objectives To assess the incidence of sex chromosome aneuploidy (SCA) predicted by
noninvasive prenatal testing (NIPT), assess test performance, and compare it with nuchal …

Aim This article is a systematic review of the literature to establish the detection rate and
false‐positive rate of the combined test for the screening of trisomy 21 in twins. Material and …

Screening is currently recommended in pregnancy for a number of genetic disorders,
chromosomal aneuploidy, and structural birth defects in the fetus regardless of maternal age …

Background Pregnant people have a risk of carrying a fetus affected by a chromosomal
anomaly. Prenatal screening is offered to pregnant people to assess their risk. Noninvasive …