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) …

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

Key points What is already known about this topic? In 2015, the International Society for
Prenatal Diagnosis (ISPD) published its first position statement on the use of non‐invasive …

Background Current cell-free DNA assessment of fetal chromosomes does not analyze and
report on all chromosomes. Hence, a significant proportion of fetal chromosomal …

Objective The aim of this study was to investigate how the introduction of noninvasive
prenatal testing (NIPT) impacted women's testing choices following a positive prenatal …

STUDY QUESTION What is the incidence, origin and clinical significance of segmental
aneuploidy in human oocytes and preimplantation embryos? SUMMARY ANSWER …

Non‐invasive prenatal testing (NIPT) based on analysis of cell free DNA circulating in the
maternal plasma has been available clinically to screen for chromosomal abnormalities …

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 …

Objectives Diagnosis of isolated posterior fossa anomalies in children is biased by the fact
that only those that are symptomatic are brought to the attention of the appropriate clinical …

Abstract Purpose Cell-free DNA (cfDNA) testing for fetal aneuploidies was broadly
implemented for common trisomies and sex-chromosome anomalies (SCAs). However, such …