Wang Rui, Xi Meixia, Wei Youhua, Wei Li, Zhu Wenjuan, Liu Yan
Department of Medical Genetics and Prenatal Screening, Maternity and Child Health Care of Zaozhuang, Zaozhuang, Shandong 277102, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Aug 10;40(8):928-932. doi: 10.3760/cma.j.cn511374-20220825-00576.
To assess the value of non-invasive prenatal testing (NIPT) for detecting fetal chromosomal microdeletion/microduplication syndromes by carrying out prenatal diagnoses for two fetuses with Xp22.31 microdeletion indicated by NIPT.
Two pregnant women suspected for fetal Xp22.31 microdeletion syndrome who presented at Zaozhuang Maternal and Child Health Care Hospital on December 5, 2017 and October 15, 2020 were selected as the study subjects. Clinical data of the two women were collected, and peripheral venous blood samples were collected for NIPT testing. Amniotic fluid samples were taken for G-banding chromosomal karyotyping analysis and copy number variation sequencing (CNV-seq) for fetus 1, while G-banding chromosomal karyotyping and single nucleotide polymorphism microarray analysis (SNP array) were carried out for fetus 2. Peripheral venous blood samples of couple 1 were collected for CNV-seq to verify the origin of copy number variation .
NIPT indicated that fetus 1 had harbored a 1.3 Mb deletion in the Xp22.31 region, while G-banding chromosomal karyotyping had found no abnormality. CNV-seq analysis verified the fetus to be seg[GRCh37]del(X)(p22.31)chrX:g.6800001_7940000del, with a 1.14 Mb deletion at Xp22.31, which was derived from its mother. NIPT indicated that fetus 2 had harbored a 1.54 Mb deletion in the Xp22.31 region, while G-banding chromosomal karyotyping had found no abnormality. SNP array analysis indicated arr[GRCh37]Xp22.31(6458940_8003247)×0, with a 1.54 Mb deletion in Xp22.31 region.
NIPT not only has a good performance for detecting fetal trisomies 21, 18 and 13, but also has the potential for detecting chromosomal microdeletion/microduplications. For high risk fetuses indicated by NIPT, prenatal diagnosis needs to be carry out to verify the chromosomal abnormalities.
通过对无创产前检测（NIPT）提示Xp22.31微缺失的两例胎儿进行产前诊断，评估NIPT检测胎儿染色体微缺失/微重复综合征的价值。
选取2017年12月5日和2020年10月15日在枣庄市妇幼保健院就诊的疑似胎儿Xp22.31微缺失综合征的两名孕妇作为研究对象。收集两名孕妇的临床资料，并采集外周静脉血样本进行NIPT检测。对胎儿1采集羊水样本进行G显带染色体核型分析和拷贝数变异测序（CNV-seq），对胎儿2进行G显带染色体核型分析和单核苷酸多态性微阵列分析（SNP阵列）。采集夫妇1的外周静脉血样本进行CNV-seq，以验证拷贝数变异的来源。
NIPT提示胎儿1的Xp22.31区域存在1.3 Mb的缺失，而G显带染色体核型分析未发现异常。CNV-seq分析证实胎儿为seg[GRCh37]del(X)(p22.31)chrX:g.6800001_7940000del，Xp22.31区域有1.14 Mb的缺失，该缺失来自其母亲。NIPT提示胎儿2的Xp22.31区域存在1.54 Mb的缺失，而G显带染色体核型分析未发现异常。SNP阵列分析显示arr[GRCh37]Xp22.31(6458940_8003247)×0，Xp22.31区域有1.54 Mb的缺失。
NIPT不仅在检测胎儿21-三体、18-三体和13-三体方面表现良好，而且具有检测染色体微缺失/微重复的潜力。对于NIPT提示的高风险胎儿，需要进行产前诊断以核实染色体异常情况。
