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First-trimester screening-biomarkers and cell-free DNA
Ioan Suciu1, Slavyana Galeva2, Samira Abdel Azim3
1Spitalul Clinic de Urgenta Floreasca, General Surgery, Bucharest, Romania.
Summary
Noninvasive prenatal testing (NIPT) is effective for trisomy screening but replacing first-trimester screening with NIPT risks losing crucial early pregnancy information and adds cost. Contingent screening models are being adopted globally.
Area of Science:
- Reproductive Medicine
- Genetics
- Clinical Diagnostics
Background:
- Cell-free DNA testing has transformed prenatal screening, yet overestimation of noninvasive prenatal testing (NIPT) capabilities persists.
- Healthcare providers and expectant parents often misunderstand the limitations and costs associated with NIPT.
Purpose of the Study:
- To review the global adoption of contingent screening models.
- To analyze the benefits and drawbacks of combined screening tests versus NIPT.
Main Methods:
- Comprehensive literature search of Web of Science, PubMed, and institutional websites.
- Focused on screening approaches and international implementation strategies.
Main Results:
- Nine countries/regions have approved contingent screening; others are evaluating NIPT versus universal screening.
- Ongoing meta-analyses debate NIPT's role in universal screening for fetal aneuploidies.
- Contingent screening offers a balanced approach to prenatal diagnostics.
Conclusions:
- NIPT is a valuable secondary screening tool for trisomies 21, 18, and 13.
- Replacing first-trimester screening with NIPT sacrifices early dating, structural anomaly detection, and preeclampsia screening.
- High NIPT costs strain public health systems; contingent models offer a cost-effective alternative.
Keywords:
Biomarkerscell free DNAchromosomal abnormalitiescombined screening testfirst trimester scan
