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Updated: Jan 19, 2026
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Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
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Noninvasive prenatal testing: from aneuploidy to single genes
1Division of Maternal-Fetal Medicine, Obstetrics and Gynecology, Harvard Medical School, Brigham and Women's Hospital, 75 Francis St, Boston, MA, USA. sguseh@bwh.harvard.edu.
Human Genetics
|September 27, 2019
Summary
Noninvasive prenatal testing (NIPT) uses cell-free DNA in maternal plasma for genetic screening. Advances in sequencing have made NIPT a common clinical tool for detecting aneuploidy and other genetic conditions.
Area of Science:
- Genetics
- Molecular Biology
- Obstetrics
Background:
- Circulating cell-free fetal DNA in maternal plasma has been known for years.
- Massively parallel sequencing technology has enabled the clinical application of noninvasive prenatal testing (NIPT).
Purpose of the Study:
- To review the clinical use of NIPT for aneuploidy detection.
- To discuss causes of inaccurate or discordant NIPT results.
- To explore NIPT's expansion to copy number variants and single-gene disorders.
Main Methods:
- Literature review of NIPT advancements and applications.
- Analysis of NIPT accuracy and discordance factors.
- Comparison of NIPT with traditional screening methods.
Main Results:
- NIPT is increasingly used for aneuploidy screening.
- Factors influencing NIPT accuracy are identified.
- NIPT is expanding to detect copy number variants and single-gene disorders.
Conclusions:
- NIPT has revolutionized prenatal genetic screening.
- Understanding NIPT's limitations and ethical implications is crucial.
- NIPT offers a valuable alternative to traditional screening methods.
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