Non-invasive Prenatal Screening for Fetal Aneuploidy: Comparison with Cytogenetic Results

摘要: Non-invasive prenatal screening (NIPS) for fetal aneuploidy detection using cell-free DNA from maternal circulation has been rapidly adopted use in high-risk pregnancies since its inception 2011. While most published NIPS studies are written the clinical validation, obstetric, or technological viewpoints, this review we summarize cytogenetics laboratory experience with technology. A total of 528 positive cases were compared to cytogenetic results and overall true-positive rate was 77 % (95 CI 73.3–80.6) all aneuploidies (407/528). Sixty percent (n = 317) showed increased risk trisomy 21 had a predictive value (PPV) 92 88.2–94.6). The PPV 18 69 59.3–78.1), 49 35.1–63.2) 13, 35 22.9–48.9) combined sex chromosome abnormalities. This technology is expanding include testing microdeletion syndromes. In our limited referred laboratories after microdeletion-positive NIPS, only two confirmed by cytogenetics, resulting 11 1.4–34.7). We discuss reasons discordant which confined placental mosaicism, vanishing co-twin, neoplasia, counting algorithms, error.