Clinical Experience with Noninvasive Prenatal Testing in Twin Pregnancy Samples at a Single Center in Germany

Abstract In this study we wanted to determine the performance of a paired-end sequencing-based noninvasive prenatal testing (NIPT) assay in detection common fetal trisomies twin pregnancy samples. Samples from patients with were collected at least 10 weeks gestation and analyzed single center Germany. Results Anomaly Detected (i.e., high risk) or No low for trisomy 21, 18, 13 reported. Follow-up confirmatory outcomes requested all cases. A total 1,658 pregnancies submitted samples during period; only two these failed resulting failure rate 0.12%. Of remaining 1,656 cases, there 1,625 (98.1%) low-risk 31 (1.9%) high-risk NIPT our cohort. these, follow-up information was available 301 (18.5%) 19 (61.3%) All cases determined be true negatives giving an estimated negative predictive value 100%. Seventeen positives, overall positive 89.5%. Sensitivities > 99.9% noted both 21 specificities ≥ 99.7% observed three trisomies. conclusion, showed strong samples, sensitivities, specificities, values based on known clinical along rate.