Non-invasive prenatal testing: a review of international implementation and challenges
Open accessAbstract
Noninvasive prenatal genetic testing (NIPT) is an advance in the detection of fetal chromosomal aneuploidies that analyzes cell-free fetal DNA in the blood of a pregnant woman. Since its introduction to clinical practice in Hong Kong in 2011, NIPT has quickly spread across the globe. While many professional societies currently recommend that NIPT be used as a screening method, not a diagnostic test, its high sensitivity (true positive rate) and specificity (true negative rate) make it an attractive alternative to the serum screens and invasive tests currently in use. Professional societies also recommend that NIPT be accompanied by genetic counseling so that families can make informed reproductive choices. If NIPT becomes more widely adopted, States will have to implement regulation and oversight to ensure it fits into existing legal frameworks, with particular attention to returning fetal sex information in areas where sex-based abortions are prevalent. Although there are additional challenges for NIPT uptake in the developing world, including the lack of health care professionals and infrastructure, the use of NIPT in low-resource settings could potentially reduce the need for skilled clinicians who perform invasive testing. Future advances in NIPT technology promise to expand the range of conditions that can be detected, including single gene disorders. With these advances come questions of how to handle incidental findings and variants of unknown significance. Moving forward, it is essential that all stakeholders have a voice in crafting policies to ensure the ethical and equitable use of NIPT across the world.
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NIPT was introduced in 2011.
“The searches were limited to studies published from 2011 onwards because NIPT was only introduced in 2011 [16].”
From Psychological and social consequences of non-invasive prenatal testing (NIPT): a scoping review (2019) · cites this paper as [16]
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References 141 · Cited by 364
Research works printed but not linked: 10
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- Authors
- Allyse, M., Minear, M., Rote, M., Hung, A., Chandrasekharan, S., Berson, E., & Sridhar, S.
- Affiliations
- University of California, San Francisco (US)
- Duke University (US)
- Corresponding author
- Allyse, Megan
- Venue
- International Journal of Women's Health
- Publisher
- Informa UK Limited
- Published
- 2015-01
- Volume
- 7
- Pages
- 113
- ISSN
- 1179-1411 (ISSN-L)
- PMC
- PMC4303457
- OpenAlex
- W2116869873
- Cited by
- 364
- References
- 141
- Citations by year
- 2026: 25 · 2025: 20 · 2024: 24 · 2023: 29 · 2022: 31 · 2021: 35 · 2020: 34 · 2019: 37 · 2018: 46 · 2017: 34 · 2016: 38 · 2015: 10
- FWCI
- 6.47
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- International Journal of Women s Health (publishedVersion, cc-by-nc)
- Europe PMC (PubMed Central) (publishedVersion, cc-by-nc)
- PubMed Central (publishedVersion, cc-by-nc)
- PubMed (publishedVersion)
- Dove Medical Press (Taylor and Francis Group) (submittedVersion, cc-by-nc)
- Funders
- National Institutes of Health (5p50hg003391-09)
- National Human Genome Research Institute (P50-HG003391, R01HG007074)
- Topics
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Prenatal Screening and Diagnostics
- Health Sciences › Medicine › Obstetrics and Gynecology › Maternal and Perinatal Health Interventions
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Medical and Health Sciences Research
- Keywords
- non-invasive prenatal testing, cell-free fetal DNA, fetal aneuploidy, prenatal screening, genetic counseling, sex determination, sex-selective abortion, resource-limited settings, monogenic disorders, incidental finding, variants of uncertain significance, health policy, ethics of genetic testing
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