Jin Keqin, Luo Jianfeng, Zhang Liping, Shen Shuangshuang, Hu Yuan
Jinhua Women and Children's Health Care Hospital, Jinhua, Zhejiang 321000, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Apr 10;38(4):329-334. doi: 10.3760/cma.j.cn511374-20200331-00221.
To explore the value of non-invasive prenatal testing (NIPT) for the detection of fetal chromosome copy number variations (CNVs).
Clinical data of 18 661 pregnant women who underwent NIPT were collected. For fetuses suspected for carrying CNVs, amniotic fluid samples were collected for chromosomal karyotyping and/or chromosomal microarray analysis (CMA).
Among all samples, NIPT suggested that 58 fetuses carried trisomy 21, 18 carried trisomy 18, 19 carried trisomy 13, 1 carried trisomies 18 and 21. Eighty eight women accepted invasive prenatal diagnosis. The results of CMA in 59 cases were consistent with those of NIPT, which yielded a consistency rate of 67.05%. In addition, 37 cases of fetal CNVs were detected by NIPT, of which 19 (15 microdeletions and 4 microduplications) have accepted invasive prenatal diagnosis. In 14 cases, the results were consistency with those of NIPT, with a consistent rate of 73.68%.
NIPT features high sensitivity and accuracy. Invasive prenatal diagnosis should be considered for CNVs detected by NIPT, and by tracing its parental origin, it can provide guidance for clinical practice.
探讨无创产前检测（NIPT）在检测胎儿染色体拷贝数变异（CNV）中的价值。
收集18661例接受NIPT的孕妇的临床资料。对于怀疑携带CNV的胎儿，采集羊水样本进行染色体核型分析和/或染色体微阵列分析（CMA）。
在所有样本中，NIPT提示58例胎儿为21三体，18例为18三体，19例为13三体，1例为18和21三体。88名孕妇接受了侵入性产前诊断。59例CMA结果与NIPT结果一致，一致率为67.05%。此外，NIPT检测出37例胎儿CNV，其中19例（15例微缺失和4例微重复）接受了侵入性产前诊断。14例结果与NIPT结果一致，一致率为73.68%。
NIPT具有高灵敏度和准确性。对于NIPT检测出的CNV，应考虑进行侵入性产前诊断，并追溯其亲本来源，可为临床实践提供指导。
