Objective To review clinical validation or implementation studies of maternal blood cell‐free
(cf) DNA analysis and define the performance of screening for fetal trisomies 21, 18 and 13 …

Non‐invasive prenatal testing (NIPT) for aneuploidy using cell‐free DNA in maternal plasma
is revolutionizing prenatal screening and diagnosis. We review NIPT in the context of …

Disclaimer: This statement is designed primarily as an educational resource for clinicians to
help them provide quality medical services. Adherence to this statement is completely …

This paper contains a joint ESHG/ASHG position document with recommendations
regarding responsible innovation in prenatal screening with non-invasive prenatal testing …

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 …

OBJECTIVE: To estimate performance of a single-nucleotide polymorphism–based
noninvasive prenatal screen for fetal aneuploidy in high-risk and low-risk populations on …

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

Noninvasive prenatal testing using fetal DNA in maternal plasma is an actively researched
area. The current generation of tests using massively parallel sequencing is based on …

Recently, many genome‐wide profiling studies provided insights into the molecular make‐
up of major cancer types. The deeper understanding of these genetic alterations and their …

Objective We sought to report on laboratory and clinical experience following 6 months of
clinical implementation of a single-nucleotide polymorphism–based noninvasive prenatal …