Cell-free DNA screening for sex chromosome aneuploidy in 67,099 pregnancies: A retrospective analysis - PubMed
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- #Prenatal diagnosis
- #Non-invasive prenatal testing
- #Sex chromosome aneuploidy
- Study evaluated non-invasive prenatal testing (NIPT) for detecting sex chromosome aneuploidies in 67,099 pregnancies.
- 101 cases confirmed NIPT results post-invasive diagnosis, with 95 showing abnormal sex aneuploidies (14 monosomy X, 36 XXY, 22 trisomy X, 23 XYY).
- Total positive predictive value (PPV) was 38.26%, varying with Z scores (33.96%-41.38%).
- NIPT is effective for sex chromosome trisomy but less so for monosomy X.
- Optimal risk threshold identified at Z score = 3 for sex chromosome aneuploidies.