Abstract
Chromosomal anomalies (CAs), such as trisomies 21 (T21), 18 (T18), and 13 (T13), are significant contributors to birth defects and genetic conditions worldwide. Cell-free fetal DNA testing (cff-DNA) is the preferred method for detecting these trisomies from maternal blood samples. However, its adoption is hindered by high costs and complexities. To enhance efficiency and reduce financial strain, we propose a practical protocol. This approach involves a contingent test based on biochemical and ultrasound markers commonly used in clinical practice. We aim to leverage cost-effective contingent prenatal DNA screening for trisomies 21, 18, and 13. This is integrated into standard aneuploidy screening during the first trimester at prenatal centers. Screening participants are categorized into four pathways (1T Quad, 1T Combined, 1T Expanded Combined, and 1T Expanded Combined + Ductus Venosus Pulsatility Index) based on biochemical markers (PAPP-A, Free β-hCG, PlGF, AFP) and ultrasound indicators (NT, DV-PI) as per FMF guidelines. Pregnant subjects (Low/High/Moderate Risk) with a high chance of affected pregnancy (1:1000 ≤ Risk < 1:10) undergo the DNA reflex screening test using stored plasma samples.
Published Version
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