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Non-Invasive Prenatal Testing: Advances, Applications, and Limitations in Prenatal Screening

Ting Yu 1
Xiaona Xu 1
Qingzheng Wei 2, *

  1. Central Laboratory, Qingdao Municipal Hospital, Qingdao, Shandong, China
  2. Clinical Laboratory, Qingdao Municipal Hospital, Qingdao, Shandong, China
Correspondence to: Qingzheng Wei, Clinical Laboratory, Qingdao Municipal Hospital, Qingdao, Shandong, China. Email: 1270700065@qq.com.
Volume & Issue: Vol. 12 No. 5 (2025) | Page No.: 7418-7423 | DOI: 10.15419/bmrat.v12i5.980
Published: 2025-05-31

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Copyright © 2025 by the author(s).

This article is published with open access by BioMedPress. This article is distributed under the terms of the Creative Commons Attribution License (CC-BY 4.0) which permits any use, distribution, and reproduction in any medium, provided the original author(s) and the source are credited. 

Abstract

Non-invasive prenatal testing (NIPT) is a prenatal screening technology based on the analysis of cell-free fetal DNA (cfDNA) detected in maternal peripheral blood. It offers high detection efficiency for common chromosomal aneuploidies, such as trisomy 21 (T21), trisomy 18 (T18), trisomy 13 (T13), and sex chromosome aneuploidies (SCA). Additionally, NIPT has expanded to include the screening of subchromosomal microdeletions and microduplications, single-gene genetic diseases, and has even demonstrated certain diagnostic value for placental-derived complications during pregnancy. However, some of the problems it presents, such as technical limitations and ethical or psychological issues, cannot be overlooked. This article reviews the advancements and limitations of NIPT in prenatal screening.

Keywords: Cell-free fetal DNA High-throughput sequencing Non-invasive prenatal testing Prenatal screening
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