Abstract：
Although non-invasive prenatal testing (NIPT) is widely used to detect fetal abnormalities, the results of NIPT vary by population, and data for the screening efficiency of NIPT positive predictive value (PPV) from different populations is limited. Herein, we retrospectively analyzed the NIPT results in a large multicenter study involving 52,855 pregnant women. Depending on gestational age, amniotic fluid or umbilical cord blood was extracted for karyotype and/or chromosome microarray analysis (CMA) in NIPT-positive patients, and the PPV and follow-up data were evaluated to determine its clinical value. Among the 52,855 cases, 754 were NIPT-positive, with a positivity rate of 1.4%. Karyotype analysis and/or CMA confirmed 323 chromosomal abnormalities, with a PPV of 45.1%. PPV for trisomy 21 (T21), trisomy 18 (T18), trisomy 13 (T13), sex chromosomal aneuploidies (SCAs), and copy number variations (CNVs) were 78.9, 35.3, 22.2, 36.9, and 32.9%, respectively. The PPVs for T21, T18, and T13 increased with age, whereas the PPVs for SCAs and CNVs had little correlation with age. The PPV was significantly higher in patients with advanced age and abnormal ultrasound. The NIPT results are affected by population characteristics. NIPT had a high PPV for T21 and a low PPV for T13 and T18, and screening for SCAs and CNVs showed clinical significance in southern China.
摘要：
尽管非侵入性产前检测（NIPT）被广泛用于检测胎儿异常，NIPT的结果因人口而异，来自不同人群的NIPT阳性预测值（PPV）的筛选效率数据有限。在这里，我们回顾性分析了一项涉及52,855名孕妇的大型多中心研究的NIPT结果.根据胎龄，提取羊水或脐带血用于NIPT阳性患者的核型和/或染色体微阵列分析（CMA），并对PPV和随访数据进行评估以确定其临床价值。在52,855例中，754为NIPT阳性，阳性率为1.4%。核型分析和/或CMA证实了323个染色体异常，PPV为45.1%。21三体（T21）的PPV，三体18(T18),三体13(T13),性染色体非整倍性（SCAs），拷贝数变异（CNVs）分别为78.9、35.3、22.2、36.9和32.9%，分别。T21、T18和T13的PPV随年龄增长而增加，而SCA和CNVs的PPVs与年龄几乎没有相关性。高龄及超声异常患者的PPV显著增高。NIPT结果受群体特征的影响。NIPT对T21的PPV较高，对T13和T18的PPV较低，在中国南方地区，SCA和CNV的筛查具有临床意义。
