Down syndrome (DS) is a birth defect with huge medical and social costs, caused by trisomy
of whole or part of chromosome 21. It is the most prevalent genetic disease worldwide and …

Purpose: Prenatal screening for Down syndrome has improved, but the number of resulting
invasive diagnostic procedures remains problematic. Measurement of circulating cell-free …

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 …

Background Screening tests for Trisomy 21 (T21), also known as Down syndrome, are
routinely performed for the majority of pregnant women. However, current tests rely on either …

Background Down's syndrome occurs when a person has three copies of chromosome 21‐
or the specific area of chromosome 21 implicated in causing Down's syndrome‐rather than …

Background Prenatal diagnosis of chromosomal abnormality requires cytogenetic analysis
of amniotic fetal cells. The necessary culture time delays diagnosis, is expensive, and …

Prenatal diagnosis and screening have undergone rapid development in recent years, with
advances in molecular technology driving the change. Noninvasive prenatal testing (NIPT) …

The aim of this Position Statement from the International Society for Prenatal Diagnosis
(ISPD) is to review the relevant published literature and make evidence-based …

The detection of gross chromosomal abnormalities is a major focus of invasive prenatal
diagnosis testing, of which the most common cytogenetic anomaly in live births is trisomy 21 …

Purpose: To determine whether maternal plasma cell–free DNA sequencing can effectively
identify trisomy 18 and 13. Methods: Sixty-two pregnancies with trisomy 18 and 12 with …