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CC BY-NC-ND 4.0 · Journal of Fetal Medicine
DOI: 10.1055/s-0045-1808249
Editorial

NIPT: Routine versus Considered Options

Ashutosh Gupta
1   Department of Foetal Medicine & Medical Genetics, Artemis Hospitals, Gurgaon, Haryana, India
,
Aneja Anjila
2   Department of Obstetrics & Gynecology, Fortis Healthcare, Fortis La Femme, S 549 Greater Kailash, New Delhi, India
,
Bahl Neena
2   Department of Obstetrics & Gynecology, Fortis Healthcare, Fortis La Femme, S 549 Greater Kailash, New Delhi, India
,
Arora Rupam
3   Department of Obstetrics & Gynecology, Cloudnine Hospital, Patparganj, New Delhi, India
,
Nadir Loveleena
2   Department of Obstetrics & Gynecology, Fortis Healthcare, Fortis La Femme, S 549 Greater Kailash, New Delhi, India
› Author Affiliations Funding None.
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Introduction

Congenital diseases, complexes, and syndromes affect 3 to 6% of newborns, with chromosomal abnormalities, teratogenic damage, monogenic disorders, and multigenic diseases being significant contributors to the genetic burden.[1] Specifically, chromosomal disorders account for 6%, teratogenic damage for 7%, monogenic disorders for 8%, and multigenic diseases for 25% of all cases. However, a definitive genetic diagnosis is possible in only about 10% of affected neonates.[2]

Chromosomal abnormalities present a major concern during pregnancy, affecting 1 in every 150 pregnancies.[3] These abnormalities are responsible for half of all early pregnancy losses and are strongly associated with maternal age, regardless of whether the pregnancy involves a singleton or twins.[3] [4] Traditionally, diagnosing these anomalies relied on invasive tests such as amniocentesis and chorionic villus sampling (CVS). While effective, these procedures carry risks of complications, including rare but significant cases of fetal loss.[5]

The field of prenatal diagnostics underwent a revolutionary shift with the discovery of cell-free DNA (cfDNA) in maternal blood in 1997. This breakthrough paved the way for noninvasive prenatal testing (NIPT), which has demonstrated exceptional sensitivity and specificity in detecting fetal aneuploidies. As a result, NIPT has gained rapid acceptance, particularly among high-risk patients. Its remarkable accuracy has significantly reduced the need for invasive diagnostic procedures and the associated risk of fetal loss.

NIPT's transformative impact has earned it the label of a “disruptive innovation” as it continues to reshape prenatal screening and diagnostic practices.[6] However, it is crucial to critically evaluate the claims, promises, and growing excitement surrounding this technology. Such scrutiny is necessary to understand its broader implications, especially given the significant financial investments and strong market demand driving its widespread adoption.[7] [8]



Publication History

Article published online:
30 April 2025

© 2025. Society of Fetal Medicine. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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