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目的:对先天性心血管畸形胎儿中染色体22q11位点TUPLE1基因微缺失进行产前诊断的研究。方法:选取经产前超声心动图诊断为胎儿先天性心血管畸形且排除染色体核型异常病例52例,其中单纯心血管畸形44例,同时合并心外畸形8例。产前经脐带血穿刺留取胎儿血,应用FISH技术检测TUPLE1基因缺失。选取同期30例正常新生儿脐带血作为对照。结果:正常新生儿组与先天性心血管畸形胎儿组TUPLE1缺失率分别为0%和5.77%(3/52)。单纯心血管畸形与合并心外畸形胎儿组的TUPLE1缺失率分别为2.27%(1/44)及25.00%(2/8)。结论:在先天性心血管畸形胎儿中TUPLE微缺失有一定的发生率,产前对先天性心血管畸形患儿进行TUPLE1基因微缺失检测可以明确先心病发病机制,也有助于22q11微缺失综合征的优生优育遗传咨询。
Objective: To study the prenatal diagnosis of TUPLE1 gene microdeletion in chromosomal 22q11 locus in congenital cardiovascular malformation fetus. Methods: Fifty-two cases of congenital cardiovascular malformations were detected by prenatal echocardiography and were excluded. Among them, 44 were simple cardiovascular malformations and 8 were malformations. Fetal blood was taken from prenatal cord blood and FISH was used to detect the deletion of TUPLE1 gene. Select the same period 30 cases of normal neonatal umbilical cord blood as a control. Results: The deletion rate of TUPLE1 in normal neonates and congenital cardiovascular malformation fetuses was 0% and 5.77% (3/52) respectively. The deletion rate of TUPLE1 was 2.27% (1/44) and 25.00% (2/8) in the group of simple cardiovascular malformations and fetuses with extracardiac malformation. Conclusion: TUPLE microdeletion in fetuses with congenital cardiovascular malformations has a certain incidence. Prenatal detection of TUPLE1 gene microdeletion in prenatal congenital cardiovascular malformations can clarify the pathogenesis of congenital heart disease and also contribute to the development of 22q11 microdeletion syndrome The eugenics genetic counseling.