In 1959, 63 years after the death of John Langdon Down, Jérôme Lejeune discovered
trisomy 21 as the genetic reason for Down syndrome. Screening for Down syndrome has …

Powerful, recent advances in technologies to analyze the genome have had a profound
impact on the practice of medical genetics, both in the laboratory and in the clinic. Increasing …

Prenatal screening for sex chromosome aneuploidies (SCAs) is increasingly available
through expanded non‐invasive prenatal testing (NIPT). NIPT for SCAs raises complex …

Non-invasive prenatal testing (NIPT) is grounded in the analysis of free circulating fetal DNA
(cfDNA) in pregnant women's blood. The rolling out of this screening method was in large …

Objective: To assess the performance of non-invasive prenatal testing (NIPT) in screening
sex chromosome aneuploidy (SCA), and explore prenatal decision-making in NIPT positive …

ABSTRACT Introduction Sex chromosome aneuploidies (SCAs) are among the most
common chromosome abnormalities observed in humans. Manifestations include low …

Background A fast adoption of a non–invasive prenatal testing (NIPT) in clinical practice is a
global tendency last years. Firstly, in Russia according a new regulation it was possible to …

Objective To evaluate the efficacy of non-invasive prenatal test (NIPT) in the detection of
chromosomal aneuploidy according to the follow-up information from a single prenatal …

Abstract 47, XXY (Klinefelter syndrome [KS]) is the most common sex chromosomal
aneuploidy (1: 660), yet, despite this, only 25% of the males are ever diagnosed. Males with …

The aim of this study was to determine the predictive value of expanded noninvasive
prenatal testing (NIPT‐plus) for fetal chromosome abnormalities in the second trimester (12 …