Non-invasive prenatal testing for rare chromosomal anomalies
C. Coroleucă, C. Ionescu, L. Pleș, M. Dimitriu, M. Banacu, I. Popescu, L. Șerbănescu
Abstract: After numerous clinical validation studies, non-invasive prenatal testing for fetal aneuploidy detection is now a clinical
reality. While non-invasive prenatal testing was accepted due to the high accuracy for fetal trisomy (21, 18 and 13)
detection, recent research showed that genome-wide analysis is able to detect other fetal and maternal (mosaic)
aneuploidies. In the present paper, we discuss the clinical advantages and challenges of genome-wide circulating free
fetal deoxyribonucleic acid (DNA) profiling and targeted detection of rare chromosomal anomalies. The use of cell-free
DNA tests for sex chromosome aneuploidies and microdeletion syndromes screening cannot be currently recommended
without restriction on the basis of the present data. Expanding non-invasive prenatal testing (NIPT)-based prenatal
screening to include this anomalies not only raises ethical concerns related to information and counseling challenges but
also risks reversing the important reduction in invasive testing achieved with implementation of NIPT for aneuploidy.
DOI:10.18643/gieu.2016.208