■非侵入性产前检查(NIPT)用于筛查21、18和13三体。这项研究调查了NIPT的性能及其结果的临床意义。
■参加免费NIPT(2018年4月至2021年12月)的孕妇(n=282,911)进行了常见三体筛查。并对结果进行回顾性分析。NIPT性能通过其阳性预测值(PPV)进行评估,灵敏度,和特异性。结果用数字进行分析,百分比,和卡方/t检验分析。
■NIPT筛查后,常见三体综合征患者(n=746)包括457例T21,160例T18和129例T13.发现7例假阴性病例。高PPV(86.81%,56.81%,18.18%),灵敏度(99.25%,98.33%,100.00%),和特异性(99.98%,99.98%,分别检测到21、18和13三体的99.97%)值。普通三体的PPV在35岁以上的孕妇之间存在显着差异(85.53%,136/159)和35岁或以下的人(58.90%,311/528)(χ2=125.02,P=2.20e-16)。随着NIPT摄入量从2018年到2021年的增加,活产出生缺陷发生率下降。
■NIPT在筛选T21、T18和T13方面表现良好。我们的发现为实验室和临床遗传咨询提供了重要而有用的指导。
UNASSIGNED: Non-invasive prenatal tests (NIPT) are used to screen for trisomy 21, 18, and 13. This study investigated NIPT performance and the clinical significance of its results.
UNASSIGNED: Pregnant women (n = 282,911) participating in a free NIPT (April 2018-December 2021) were screened for common trisomies, and the results were retrospectively analyzed. NIPT performance was evaluated by its positive predictive value (PPV), sensitivity, and specificity. Results were analyzed using number, percentage, and chi-squared/t-test analyses.
UNASSIGNED: After NIPT screening, patients with common trisomies (n = 746) included 457 with T21, 160 with T18, and 129 with T13. Seven false negative cases were identified. High PPV (86.81 %, 56.81 %, 18.18 %), sensitivity (99.25 %, 98.33 %, 100.00 %), and specificity (99.98 %, 99.98 %, 99.97 %) values were detected for trisomy 21, 18, and 13, respectively. The PPVs of common trisomies were significantly different between pregnant women older than 35 (85.53 %, 136/159) and those aged 35 or younger (58.90 %, 311/528) (χ2 = 125.02, P = 2.20e-16). As the NIPT uptake increased from 2018 to 2021, live-born birth defect incidence decreased.
UNASSIGNED: NIPT performed well in screening for T21, T18, and T13. Our discoveries offer an important and useful guideline in laboratory and clinical genetic counseling.