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Update in non-invasive prenatal testing.
Valentina D'ambrosio1, Antonia Squarcella2,3, Flaminia Vena1
1Department of Gynecological, Obstetrical, and Urological Sciences, Sapienza University, Rome, Italy.
Minerva Ginecologica
|October 16, 2018
Summary
Non-invasive prenatal testing (NIPT) offers superior screening for common aneuploidies like trisomy 21. Advances in genomic technology expand NIPT to sub-chromosomal aneuploidies, but require further clinical validation.
Area of Science:
- Genetics
- Reproductive Medicine
- Genomic Technologies
Background:
- Non-invasive prenatal testing (NIPT) has become the leading screening method for common autosomal aneuploidies, significantly impacting prenatal diagnosis.
- Emerging genomic technologies, particularly next-generation sequencing, are expanding NIPT's scope to include sub-chromosomal aneuploidies.
- Existing diagnostic tests carry miscarriage risks, whereas NIPT offers a safer alternative with higher diagnostic yield.
Purpose of the Study:
- To review the advancements and current status of non-invasive prenatal testing (NIPT).
- To discuss the expansion of NIPT to sub-chromosomal aneuploidies using genomic technologies.
- To highlight the need for further clinical validation of these expanded NIPT applications.
Main Methods:
- Review of scientific literature on non-invasive prenatal testing.
- Analysis of the impact of next-generation sequencing on prenatal screening.
- Discussion of recommendations from scientific societies regarding NIPT implementation.
Main Results:
- NIPT is the most effective screening method for common autosomal aneuploidies, including trisomy 21.
- Genomic technologies have enabled NIPT to screen for sub-chromosomal aneuploidies.
- NIPT provides a higher diagnostic yield without the miscarriage risk associated with invasive diagnostic tests.
Conclusions:
- NIPT represents a significant revolution in prenatal diagnosis, offering superior screening for common aneuploidies.
- The expansion of NIPT to sub-chromosomal aneuploidies necessitates further clinical validation to understand its full potential and limitations.
- Guidelines from scientific societies address the appropriate use of cell-free DNA screening in pregnancy, reflecting the transformative impact of NIPT.
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