Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2023 Aug 2;13(15):2570.
doi: 10.3390/diagnostics13152570.

Non-Invasive Prenatal Testing (NIPT): Reliability, Challenges, and Future Directions

Siva Shantini Jayashankar  1 , Muhammad Luqman Nasaruddin  1 , Muhammad Faiz Hassan  2 , Rima Anggrena Dasrilsyah  3 , Mohamad Nasir Shafiee  4 , Noor Akmal Shareela Ismail  1 , Ekram Alias  1
Affiliations
Review

Non-Invasive Prenatal Testing (NIPT): Reliability, Challenges, and Future Directions

Siva Shantini Jayashankar et al. Diagnostics (Basel). .

Abstract

Non-invasive prenatal testing was first discovered in 1988; it was primarily thought to be able to detect common aneuploidies, such as Patau syndrome (T13), Edward Syndrome (T18), and Down syndrome (T21). It comprises a simple technique involving the analysis of cell-free foetal DNA (cffDNA) obtained through maternal serum, using advances in next-generation sequencing. NIPT has shown promise as a simple and low-risk screening test, leading various governments and private organizations worldwide to dedicate significant resources towards its integration into national healthcare initiatives as well as the formation of consortia and research studies aimed at standardizing its implementation. This article aims to review the reliability of NIPT while discussing the current challenges prevalent among different communities worldwide.

Keywords: NIPT; aneuploidy; cell-free foetal DNA (cffDNA); next-generation sequencing; obstetrics; pregnancy; prenatal testing; trisomy.

PubMed Disclaimer

Conflict of interest statement

The authors declare no conflict of interest.

References

    1. Kliegman R.M. Nelson Textbook of Pediatrics. 21st ed. Volume 98. Elsevier; Amsterdam, The Netherlands: 2019. pp. 652–676.
    1. Ethics Committee of the Obstetrics and Gynecology Society of Japan and Committee on Prenatal Genetic Testing Using Maternal Blood Guidelines for New Prenatal Genetic Testing That Uses Maternal Blood. 2013. [(accessed on 28 July 2023)]. Available online: http://www.jsog.or.jp/news/pdf/guidelineForNIPT_20130309.pdf. (In Japanese)
    1. Rose N.C.M.K., Anjali J., Dugoff L., Norton M.E. American College of Obstetricians and Gynecologists’ Committee on Practice Bulletins—Obstetrics Committee on Genetics Society for Maternal-Fetal Medicine. Screening for Fetal Chromosomal Abnormalities. Obstet. Gynecol. 2020;136:48–69. doi: 10.1097/AOG.0000000000004084. - DOI
    1. Audibert F., De Bie I., Johnson J.-A., Okun N., Wilson R.D., Armour C., Chitayat D., Kim R. No. 348-Joint SOGC-CCMG Guideline: Update on Prenatal Screening for Fetal Aneuploidy, Fetal Anomalies, and Adverse Pregnancy Outcomes. J. Obstet. Gynaecol. Can. 2017;39:805–817. doi: 10.1016/j.jogc.2017.01.032. - DOI - PubMed
    1. Antenatal Care. NICE Guideline [NG201] 2021. [(accessed on 28 July 2023)]. Available online: https://www.nice.org.uk/guidance/ng201/resources/antenatal-care-pdf-6614....

LinkOut - more resources