Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell‐free DNA from maternal plasma

2013200 citationsJournal Articlebronze Open Access

Authors

Amin R. Mazloom · Sequenom (United States)

Željko Džakula · Sequenom (United States)

Paul Oeth · Sequenom (United States)

Huiquan Wang · Sequenom (United States)

Taylor J. Jensen · Sequenom (United States)

John A. Tynan · Sequenom (United States)

Ron McCullough ·

Abstract

Noninvasive prenatal identification of the most common sex chromosome aneuploidies is possible using ccf DNA and massively parallel sequencing with a high DR and a low FPR.

Topics & Keywords

Prenatal Screening and Diagnostics Genomic variations and chromosomal abnormalities Fetal and Pediatric Neurological Disorders

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: Prenatal Diagnosis

Volume 33, Issue 6, pp. 591-597

DOI: 10.1002/pd.4127

Field-Weighted Citation Impact: 46.65