PDF(Pubmed)
Abstract：
BACKGROUND: Copy number variation (CNV) of X chromosome can lead to a variety of neonatal abnormalities, especially for male fetuses. In recent years, due to the high sensitivity and high specificity of NIPS, its application has gradually expanded from chromosome aneuploidy to CNV. Few prenatal cases involving the detection of Xq duplication and deletion by NIPS have been reported, but it is of great significance for genetic counseling.
METHODS: A 36-year-old woman was referred for prenatal diagnosis and genetic counseling at 17 weeks of gestation because of abnormal result of noninvasive prenatal screening (NIPS). Multiple congenital malformations, hydrocephalus, and enlarged gallbladder were observed by prenatal ultrasound. Amniocentesis revealed the karyotype of the fetus as 46, XN, add(X) (p22.2) and the result of chromosomal microarray analysis was arr[hg19] Xq27.1q28(138,506,454-154896094) × 2 and arr[hg19] Xp22.33p22.32(168,551-5,616,964) × 1. CNV-seq showed that the mother shares a 16.42 Mb duplication in the Xq27.1-q28 region and a 2.97 Mb deletion in the Xp22.33-p22.32 region. After genetic counseling, the couple chose to terminate the pregnancy.
CONCLUSIONS: The combination of NIPS and CMA would be of values in detection of subchromosomal duplications and/or deletions at fetal stage. The detection of X chromosome aberration in a male fetus should give suspicion of the possibility of maternal inheritance.
METHODS: A 36-year-old woman was referred for prenatal diagnosis and genetic counseling at 17 weeks of gestation because of abnormal result of noninvasive prenatal screening (NIPS). Multiple congenital malformations, hydrocephalus, and enlarged gallbladder were observed by prenatal ultrasound. Amniocentesis revealed the karyotype of the fetus as 46, XN, add(X) (p22.2) and the result of chromosomal microarray analysis was arr[hg19] Xq27.1q28(138,506,454-154896094) × 2 and arr[hg19] Xp22.33p22.32(168,551-5,616,964) × 1. CNV-seq showed that the mother shares a 16.42 Mb duplication in the Xq27.1-q28 region and a 2.97 Mb deletion in the Xp22.33-p22.32 region. After genetic counseling, the couple chose to terminate the pregnancy.
CONCLUSIONS: The combination of NIPS and CMA would be of values in detection of subchromosomal duplications and/or deletions at fetal stage. The detection of X chromosome aberration in a male fetus should give suspicion of the possibility of maternal inheritance.
摘要：
背景：X染色体的拷贝数变异（CNV）可导致各种新生儿异常，尤其是男性胎儿.近年来,由于NIPS的高灵敏度和高特异性，其应用已从染色体非整倍体逐渐扩展到CNV。很少有涉及通过NIPS检测Xq重复和缺失的产前病例报道。但它对遗传咨询具有重要意义。
方法：一名36岁女性在妊娠17周时因非侵入性产前筛查（NIPS）结果异常而接受产前诊断和遗传咨询。多种先天性畸形,脑积水,产前超声观察胆囊增大。羊膜穿刺术显示胎儿的核型为46，XN，添加（X）（p22.2），染色体微阵列分析结果为ARr[hg19]Xq27.1q28（138,506,454-154896094）×2和ARr[hg19]Xp22.33p22.32（168,551-5,616,964）×1。CNV-seq显示，母亲在Xq27.1-q28区域共享16.42Mb重复，在Xp22.33-p22.32区域共享2.97Mb缺失。经过遗传咨询,这对夫妇选择终止妊娠。
结论：NIPS和CMA的组合在胎儿期亚染色体重复和/或缺失的检测中具有价值。在男性胎儿中检测X染色体畸变应怀疑母体遗传的可能性。
方法：一名36岁女性在妊娠17周时因非侵入性产前筛查（NIPS）结果异常而接受产前诊断和遗传咨询。多种先天性畸形,脑积水,产前超声观察胆囊增大。羊膜穿刺术显示胎儿的核型为46，XN，添加（X）（p22.2），染色体微阵列分析结果为ARr[hg19]Xq27.1q28（138,506,454-154896094）×2和ARr[hg19]Xp22.33p22.32（168,551-5,616,964）×1。CNV-seq显示，母亲在Xq27.1-q28区域共享16.42Mb重复，在Xp22.33-p22.32区域共享2.97Mb缺失。经过遗传咨询,这对夫妇选择终止妊娠。
结论：NIPS和CMA的组合在胎儿期亚染色体重复和/或缺失的检测中具有价值。在男性胎儿中检测X染色体畸变应怀疑母体遗传的可能性。
