There is a high incidence of chromosomal abnormalities in early human embryos, whether
they are generated by natural conception or by assisted reproductive technologies (ART) …

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 …

Purpose This workgroup aimed to develop an evidence-based clinical practice guideline for
the use of noninvasive prenatal screening (NIPS) for pregnant individuals at general risk for …

Background Prenatal diagnosis of chromosome abnormalities through the analysis of
amniocytes or chorionic villus samples (CVS) is an accepted part of prenatal care …

Objectives Chromosomal mosaicism in chorionic villi (CV) is detected in~ 1–2% of cases.
When a mosaic in CV is detected during prenatal diagnosis, a confirmatory karyotype should …

The aim of this study was to devise an evidence-based scoring system for prioritizing mosaic
aneuploid embryos for transfer. A retrospective analysis was performed of all sequential …

The diagnosis of chromosomal mosaicism in the preimplantation and prenatal stage is
fraught with uncertainty and multiple factors need to be considered in order to gauge the …

Non-invasive prenatal testing has been introduced for the detection of Trisomy 13, 18, and
21. Using genome-wide screening also other “rare” autosomal trisomies (RATs) can be …

Preimplantation genetic testing for aneuploidy (PGT-A) seeks to identify embryos with a
normal chromosome complement during in vitro fertilization (IVF). Transfer of one euploid …

Intercellular karyotypic variability has been a focus of genetic research for more than 50
years. It has been repeatedly shown that chromosome heterogeneity manifesting as …