Purpose We systematically reviewed the published literature on test failure rates for the
sequencing of cell-free DNA (cfDNA) in maternal plasma to identify Down syndrome …

To evaluate the clinical performance of noninvasive prenatal screening (NIPS) for fetal sex
chromosome aneuploidies (SCAs), pregnant women were recruited in this retrospective …

Purpose: This study demonstrates noninvasive prenatal testing (NIPT) for Duchenne
muscular dystrophy (DMD) using a newly developed haplotype-based approach. Methods …

Non-invasive prenatal testing (NIPT) is a pioneering technique that has consistently
advanced the field of prenatal testing to detect genetic abnormalities and conditions with the …

The noninvasive prenatal test (NIPT) as the first trimester prenatal screening (FTS) for
trisomies 21, 18, and 13 is offered to all pregnant women in the Netherlands. NIPT using …

Abstract Disclaimer: ACMG Clinical Laboratory Practice Resources are developed primarily
as an educational tool for clinical laboratory geneticists to help them provide quality clinical …

Objective We sought to determine the positive predictive value (PPV) of noninvasive
prenatal screening (NIPS) for various aneuploidies based on cases referred for follow-up …

Introduction: Circulating fetal cells in maternal blood provide a tool for risk-free, non-invasive
prenatal diagnosis. However, fetal cells in the maternal circulation are scarce, and to …

The field of prenatal screening and diagnosis has undergone enormous progress over the
past four decades. Most of this period has been characterized by gradual improvements in …

Objective This study aimed to evaluate the performance of noninvasive prenatal testing
(NIPT) for detecting three common trisomies (T21, T18, and T13) in pregnant women with …