Jiang Nan, Zhang Yinshuai, Song Lijie, Yu Dongyi
Center of Genetic Testing, Qingdao Women & Children's Hospital, Qingdao, Shandong 266034, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Jul 10;37(7):779-784. doi: 10.3760/cma.j.issn.1003-9406.2020.07.019.
To assess the value of non-invasive prenatal testing (NIPT) for the detection of fetal copy number variations (CNVs) in addition to trisomies 21, 18, and 13.
A total of 37 306 pregnant women underwent the NIPT test. For those with fetal CNVs indicated by NIPT and accepted invasive prenatal diagnosis, amniotic fluid samples were obtained for chromosomal karyotyping analysis and chromosome microarray analysis (CMA). All cases were followed up.
Among the 37 306 cases, 78 (0.209%) were predicted to have fetal CNVs. Among these, 52 pregnant women accepted invasive prenatal diagnosis, and 15 of them (28.85%) obtained a consistent result. Follow up of 26 women who refused invasive prenatal diagnosis have found 2 cases with spontaneous abortion, 2 with induced labor for fetal malformation indicated by ultrasonography, and 1 had multiple malformations and a consistent result by CMA, which yielded an abnormal rate of 19.23%.
NIPT can signal fetal chromosomal abnormalities through detection of gain and/or loss of fetal DNA copies. Combined chromosomal karyotyping and CMA can increase the detection rate for common chromosomal aneuploidies and CNVs, thereby provide a basis for genetic counseling for the affected families.
评估无创产前检测（NIPT）在检测除21、18和13三体之外的胎儿拷贝数变异（CNV）方面的价值。
共有37306名孕妇接受了NIPT检测。对于那些NIPT提示有胎儿CNV且接受侵入性产前诊断的孕妇，获取羊水样本进行染色体核型分析和染色体微阵列分析（CMA）。所有病例均进行随访。
在37306例病例中，78例（0.209%）被预测有胎儿CNV。其中，52名孕妇接受了侵入性产前诊断，其中15例（28.85%）结果一致。对26名拒绝侵入性产前诊断的孕妇进行随访发现，2例自然流产，2例因超声提示胎儿畸形而引产，1例有多种畸形且CMA结果一致，异常率为19.23%。
NIPT可通过检测胎儿DNA拷贝数的增加和/或减少来提示胎儿染色体异常。联合染色体核型分析和CMA可提高常见染色体非整倍体和CNV的检出率，从而为受影响家庭的遗传咨询提供依据。
