Prenatal Detection of Fetal Triploidy from Cell-Free DNA Testing in Maternal Blood

2013108 citationsJournal Article

Authors

K. H. Nicolaides · Harris Birthright Research Centre for Fetal Medicine

Argyro Syngelaki · Harris Birthright Research Centre for Fetal Medicine

M. M. Gil · Harris Birthright Research Centre for Fetal Medicine

M.S. Quezada · Harris Birthright Research Centre for Fetal Medicine

Abstract

cfDNA testing by targeted sequencing and allelic ratio analysis of single nucleotide polymorphisms covering chromosomes 21, 18, 13, X, and Y can detect diandric triploidy and raise the suspicion of digynic triploidy.

Topics & Keywords

Prenatal Screening and Diagnostics Gestational Trophoblastic Disease Studies Genetic Syndromes and Imprinting

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: Fetal Diagnosis and Therapy

Volume 35, Issue 3, pp. 212-217

DOI: 10.1159/000355655

Field-Weighted Citation Impact: 27.00