This review provides an updated summary of the state of our knowledge of the genetic
contributions to the pathogenesis of congenital heart disease. Since 2007, when the initial …

A wide range of adverse pregnancy outcomes are associated with women of advanced
maternal age (AMA). These include increased risks for miscarriage, chromosomal …

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 …

The Netherlands launched a nationwide implementation study on non-invasive prenatal
testing (NIPT) as a first-tier test offered to all pregnant women. This started on April 1, 2017 …

Sequencing of Circulating Cell-free DNA during Pregnancy | NEJM Skip to main content NEJM
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Purpose To assess the clinical performance of an expanded noninvasive prenatal screening
(NIPS) test (“NIPS-Plus”) for detection of both aneuploidy and genome-wide microdeletion …

Chromosomal microarray analysis (CMA) is performed either by array comparative genomic
hybridization or by using a single nucleotide polymorphism array. In the prenatal setting …

Prenatal testing for chromosomal abnormalities is designed to provide an accurate
assessment of a patient's risk of carrying a fetus with a chromosomal disorder. A wide variety …

Background Historically, prenatal screening has focused primarily on the detection of fetal
aneuploidies. Cell-free DNA now enables noninvasive screening for subchromosomal copy …

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 …