Zhen Jianxin, Zhang Liting, Wang Huilin, Chen Xi, Wang Weihong, Li Lili, Zhang Quanfu
Central Laboratory, Shenzhen Baoan Women's and Children's Hospital, Shenzhen, Guangdong Province, China.
Department of Obstetrics, Shenzhen Baoan Women's and Children's Hospital, Shenzhen, Guangdong Province, China.
PLoS One. 2025 Aug 18;20(8):e0329463. doi: 10.1371/journal.pone.0329463. eCollection 2025.
Genome-wide non-invasive prenatal testing (GW-NIPT) for prenatal screening has been widely implemented. However, the related clinical data is still insufficient. Here, we evaluated the clinical performance of GW-NIPT as a first-tier screening test for detecting fetal aneuploidy and copy number variation (CNV).
The study included 59,877 pregnant women who underwent GW-NIPT at Shenzhen Baoan Women's and Children's Hospital, China, from November 2017 to May 2021. NIPT was performed on the BGISEQ-500 platform. Fetal karyotype analysis, chromosomal microarray analysis (CMA) and fluorescence in situ hybridization were used for invasive diagnostic procedures, and postnatal outcomes were collected.
Among 59,877 pregnant women who underwent GW-NIPT, 59,771 were successfully tested. Of these, 499 (0.83%) were identified with 504 high-risk fetal chromosomal abnormalities, including 5 cases each carrying two distinct abnormalities. Follow-up analysis demonstrated that GW-NIPT sensitivity exceeded 97% for fetal aneuploidies and was 63.6% for CNV (≥5 Mb). The positive predictive values for T21, T18, T13, sex chromosome aneuploidy, rare autosomal aneuploidy, and CNV (≥5 Mb) were calculated as 83.1%, 25.8%, 10.3%, 51.9%, 2.0%, and 33.9%, respectively. For confirmed fetal mosaicism, the detection rate of NIPT was 70.6%, which was consistent with that of CMA (70.6%).
GW-NIPT has high sensitivity in screening fetal aneuploidy and moderate clinical utility in detecting CNV and fetal mosaicism, demonstrating that GW-NIPT holds significant application value in current and future prenatal screening procedures.
全基因组无创产前检测（GW-NIPT）已广泛应用于产前筛查。然而，相关临床数据仍不充分。在此，我们评估了GW-NIPT作为检测胎儿非整倍体和拷贝数变异（CNV）的一线筛查试验的临床性能。
本研究纳入了2017年11月至2021年5月在中国深圳宝安妇幼保健院接受GW-NIPT的59877名孕妇。NIPT在BGISEQ-500平台上进行。采用胎儿核型分析、染色体微阵列分析（CMA）和荧光原位杂交进行侵入性诊断程序，并收集产后结局。
在59877名接受GW-NIPT的孕妇中，59771名成功检测。其中，499名（0.83%）被鉴定出有504例高危胎儿染色体异常，包括5例携带两种不同异常的病例。随访分析表明，GW-NIPT对胎儿非整倍体的敏感性超过97%，对CNV（≥5 Mb）的敏感性为63.6%。T21、T18、T13、性染色体非整倍体、罕见常染色体非整倍体和CNV（≥5 Mb）的阳性预测值分别计算为83.1%、25.8%、10.3%、51.9%、2.0%和33.9%。对于确诊的胎儿嵌合体，NIPT的检测率为70.6%，与CMA的检测率（70.6%）一致。
GW-NIPT在筛查胎儿非整倍体方面具有高敏感性，在检测CNV和胎儿嵌合体方面具有中等临床实用性，表明GW-NIPT在当前和未来的产前筛查程序中具有重要应用价值。
