Zhu Yiyang, Shan Qunda, Zheng Jiayong, Cai Qunxi, Yang Huanli, Zhang Jianhong, Du Xiaodong, Jin Fan
Department of Reproductive Endocrinology, Women's Hospital, School of Medicine Zhejiang University, Hangzhou, China.
Department of Prenatal Diagnosis, Enze Women's Hospital, Taizhou Hospital of Zhejiang Province, Zhejiang University, Taizhou, China.
Front Genet. 2019 Mar 11;10:69. doi: 10.3389/fgene.2019.00069. eCollection 2019.
In this study, we aimed to compare the efficiency of non-invasive prenatal testing (NIPT), karyotyping, and chromosomal micro-array (CMA) for the diagnosis of fetal chromosomal anomalies in the second and third trimesters. Pregnant women, who underwent amniocenteses for prenatal genetic diagnoses during their middle and late trimesters, were recruited at the Prenatal Diagnosis Center of Taizhou City. Maternal blood was separated for NIPT, and amniotic fluid cells were cultured for karyotyping and CMA. The diagnostic efficiency of NIPT for detecting fetal imbalanced anomalies was compared with karyotyping and CMA. A total of 69 fetal chromosomal imbalances were confirmed by CMA, 37 were diagnosed by NIPT and 35 were found by karyotyping. The sensitivities of NIPT and karyotyping for diagnosing aneuploidy were 96.3% and 100% respectively. Only one mosaic sexual chromosome monosomy was misdiagnosed by NIPT, whereas the sensitivity of NIPT and karyotyping was 70% and 30%, respectively, for detecting pathogenic deletions and duplications sized from 5-20 Mb. Taken together, our results suggest that the efficiency of NIPT was similar to the formula karyotyping for detecting chromosome imbalance in the second and third trimesters.
在本研究中，我们旨在比较无创产前检测（NIPT）、核型分析和染色体微阵列（CMA）在孕中期和孕晚期诊断胎儿染色体异常的效率。在台州市产前诊断中心招募了在孕中期和孕晚期接受羊膜腔穿刺术进行产前基因诊断的孕妇。采集孕妇血液用于NIPT检测，并培养羊水细胞用于核型分析和CMA检测。将NIPT检测胎儿染色体不平衡异常的诊断效率与核型分析和CMA进行比较。CMA共确诊69例胎儿染色体不平衡，NIPT诊断出37例，核型分析发现35例。NIPT和核型分析诊断非整倍体的敏感性分别为96.3%和100%。NIPT仅误诊1例嵌合性性染色体单体，而在检测5-20 Mb大小的致病性缺失和重复时，NIPT和核型分析的敏感性分别为70%和30%。综上所述，我们的结果表明，在孕中期和孕晚期检测染色体不平衡时，NIPT的效率与传统核型分析相似。
