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TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the
Karuna R M van der Meij1, Erik A Sistermans1, Merryn V E Macville2
1Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, 1081HV Amsterdam, the Netherlands.
American Journal of Human Genetics
|November 12, 2019
Summary
Non-invasive prenatal testing (NIPT) in the Netherlands showed high positive predictive values for common trisomies. This nationwide study provides crucial data for integrating NIPT into national prenatal screening programs.
Area of Science:
- Prenatal diagnostics
- Genetics
- Public health
Background:
- The Netherlands implemented a nationwide study offering non-invasive prenatal testing (NIPT) as a primary screening option for all pregnant women.
- The TRIDENT-2 study, initiated in April 2017, aimed to assess NIPT's integration into national healthcare.
Purpose of the Study:
- To evaluate the effectiveness and outcomes of a nationwide NIPT implementation study.
- To analyze the positive predictive values (PPVs) of NIPT for common trisomies and other chromosomal abnormalities.
- To inform the ongoing debate regarding the benefits and risks of genome-wide NIPT in a national screening context.
Main Methods:
- Nationwide implementation of NIPT as a first-tier test in prenatal care.
- Data collection on NIPT uptake, trisomy detection rates, and PPVs for trisomies 21, 18, and 13.
- Analysis of additional findings, including other trisomies, structural chromosomal aberrations, and potential maternal malignancies.
Main Results:
- In the first year, NIPT was performed in 42% of pregnancies, with high PPVs for trisomy 21 (96%) and trisomy 18 (98%), and a notable PPV for trisomy 13 (53%).
- Additional findings, including other trisomies (PPV 6%), structural aberrations (PPV 32%), and potential maternal malignancies (PPV 64%), were reported.
- The study successfully embedded NIPT into a national prenatal care system, including counseling and follow-up.
Conclusions:
- The nationwide implementation of NIPT in the Netherlands demonstrated high PPVs for common trisomies and provided valuable data on additional findings.
- The findings support the successful integration of NIPT into national screening programs, while also highlighting the need to balance benefits against risks of discordant positives and increased diagnostic procedures.
- Further analysis of clinical and laboratory data will contribute to the ongoing discussion about genome-wide NIPT's role in prenatal care.
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