BACKGROUND Liquid biopsies that are based on analysis of cell-free DNA from plasma
offer diagnostic information that is otherwise accessible conventionally through invasive …

Since its introduction in 2011, noninvasive prenatal testing (NIPT) has spread rapidly around
the world. It carries numerous benefits but also raises challenges, often related to …

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 …

Chromosome imbalance (aneuploidy) is the major cause of pregnancy loss and congenital
disorders in humans. Analyses of small biopsies from human embryos suggest that …

Introduction Noninvasive prenatal testing (NIPT) using cell‐free fetal DNA has increasingly
been adopted as a screening tool for fetal aneuploidies. Several studies have discussed …

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 …

Purpose Noninvasive prenatal screening (NIPS) using cell-free DNA has transformed
prenatal care. Belgium was the first country to implement and fully reimburse NIPS as a first …

Pregnancy loss is often caused by chromosomal abnormalities of the conceptus. The
prevalence of these abnormalities and the allocation of (ab) normal cells in embryonic and …

In the TRIDENT-2 study, all pregnant women in the Netherlands are offered genome-wide
non-invasive prenatal testing (GW-NIPT) with a choice of receiving either full screening or …

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 …