2例15q26微缺失综合征胎儿的超声筛查与产前诊断  

Ultrasonic screening and prenatal diagnosis of 2 fetuses with 15q26 microdeletion syndrome

作　　者：李萌[1] 费冬梅[2] 许涓涓[1] 付华钰[1] 李娇[1] 农金铷 欧阳鲁平 LI Meng;FEI Dongmei;XU Juanjuan;FU Huayu;LI Jiao;NONG Jinru;OUYANG Luping(Eugenics Genetic Clinic,Maternity and Child Health Care of Guangxi Zhuang Autonomous Region,Nanning,Guangxi 530001,China;Laboratory of Genetic and Metabolism Center,Maternity and Child Health Care of Guangxi Zhuang Autonomous Region,Nanning,Guangxi 530001,China)

机构地区：[1]广西壮族自治区妇幼保健院优生遗传门诊,广西南宁530001 [2]广西壮族自治区妇幼保健院遗传代谢中心实验室,广西南宁530001

出　　处：《中国优生与遗传杂志》2021年第12期1758-1761,共4页Chinese Journal of Birth Health & Heredity

基　　金：广西壮族自治区卫生健康委员会自筹经费科研课题(Z20210066,Z20200118)。

摘　　要：目的探讨15q26微缺失综合征胎儿的超声指标与产前诊断。方法1例孕妇因早期妊娠、孕产妇产前超声筛查示颈项透明层(nuchal translucency,NT)增厚(NT 7.8 mm)、水肿胎于2019年4月就诊于我院优生遗传门诊;l例孕妇因产前超声筛查显示NT增厚(NT4.4 mm)、早期妊娠于2019年5月就诊于本院优生遗传门诊。应用单核苷酸多态性微阵列(single nucleotide polymorphism array,SNParray)检测技术和染色体核型分析技术进行基因组拷贝数变异,并对胎儿父母进行外周血染色体核型分析。结果1例孕妇的绒毛细胞染色体微阵列技术结果为arr[GRCh37]3p26.3p26.2(1162041-2886527)x1;arr[GRCh37]15q26.2q26.3(94349614-102397836)x1,另1例孕妇的绒毛细胞染色体微阵列技术结果为arr[GRCh37]15q26.1q26.3(92638193-99612980)x1,两例染色体核型分析报告均为46,XN,del(15)(q26),缺失片段包含IGF1R等基因。两例孕妇及其丈夫的外周血染色体核型均未见异常。经过遗传咨询,2例孕妇及其家属选择终止妊娠。结论早孕期超声筛查中发现NT增厚时,行产前单核苷酸多态性微阵列检测技术有利于发现相关致病基因。Objective To investigate the ultrasonographic index and prenatal diagnosis of fetuses with 15 q26 microdeletion syndrome. Methods One pregnant woman was diagnosed with NT thickening(NT 7.8 mm) and edema due to early pregnancy and prenatal ultrasound screening was admitted to the eugenic genetics clinic of our hospital in April 2019;1 cases of pregnant women were admitted to the eugenic genetics clinic of our hospital in May 2019 due to NT thickening(NT 4.4 mm)shown in prenatal ultrasound screening. Single nucleotide polymorphism array(SNParray) and chromosome karyotype analysis were carried out genome copy number variation, and conducted peripheral blood chromosome karyotype analysis on fetal parents. Results arr[GRCh37]3 p26.3 p26.2(1162041-2886527)x1;arr[GRCh37]15 q26.2 q26.3(94349614-102397836)x1, and another case of pregnant villous cell chromosome microarray was arr[GRCh37]15 q26.1 q26.3(92638193-99612980)x1. Karyotype analysis of the two cases were reported as 46,XN,del(15), the missing fragment contains IGF1 R gene. There was no abnormality in chromosome karyotype in two pregnant women and their husbands. After genetic counseling, 2 pregnant women and their family members chose to terminate pregnancy. Conclusion When NT thickening was found in early pregnancy ultrasound screening, prenatal single nucleotide polymorphismmicroarray detection is beneficial to the detection of related pathogenic genes.

关 键 词：15q26微缺失综合征 染色体核型分析 单核苷酸多态性微阵列 NT增厚 

分 类 号：R714.5[医药卫生—妇产科学]