2019, Volume 12, Issue 3, pp 221 – 224

Non-Invasive Prenatal Testing beyond Trisomies

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Authors and Affiliations

Corresponding Author: Lucian Pop, Department of Obstetrics and Gynecology, Alessandrescu-Rusescu Institute of Mother and Child Care, Bld. Lacul Tei 120, 2nd district, Bucharest, Romania, 020395, Tel.: +40741044720, E-mail: popluciangh@icloud.com

Abstract

The last decade has seen incredible advances in the genetic era, in next-generation sequencing of cell-free DNA in the maternal plasma, detecting abnormal fetal chromosomes. Non-invasive prenatal testing (NIPT) has showed increased sensitivity and specificity for Down syndrome superior to any other screening test. Technical advances have made possible the detection of other conditions which does not necessarily mean clinical benefit for the patient. Private laboratories have added multiple conditions in the panel of NIPT, but some of these abnormalities are so rare, that their prevalence is not even clear. Data regarding clinical performance of extended NIPT is lacking. Implementation of such a test has to be carefully weighed, and not only the benefits but also the harm should be taken into account.

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About this article

PMC ID: 6814886
PubMed ID: 31666820
DOI: 10.25122/jml-2019-0053

Article Publishing Date (print): Jul-Sep 2019
Available Online: 

Journal information

ISSN Printing: 1844-122X
ISSN Online: 1844-3117
Journal Title: Journal of Medicine and Life

Copyright License: Open Access

This article is distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use and redistribution provided that the original author and source are credited.


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