连续2次妊娠产前诊断胎儿22q11.2微缺失综合征1例  

Prenatal diagnosis of 22q11.2 deletion syndrome in two consecutive pregnancies:a case report

作　　者：高崇兰 刘凤琴 陈秋玲 刘青松 胡誉 Gao Chonglan;Liu Fengqin;Chen Qiuling;Liu Qingsong;Hu Yu(Department of Prenatal Diagnosis,the Affliated Women's and Children's Hospital,School of Medicine,University of Electronic Science and Technology of China(Chengdu Women's and Children's Central Hospital),Chengdu 611731,China;Department of Ultrasonography,the Affliated Women's and Children's Hospital,School of Medicine,University of Electronic Science and Technology of China(Chengdu Women's and Children's Central Hospital),Chengdu 611731,China;Department of Obstetrics and Gynecology,Chengdu Chenghua District Health Care Hospital,Chengdu 610000,China)

机构地区：[1]电子科技大学医学院附属妇女儿童医院(成都市妇女儿童中心医院)产前诊断科,成都611731 [2]电子科技大学医学院附属妇女儿童医院(成都市妇女儿童中心医院)超声科,成都611731 [3]成都市成华区妇幼保健院妇产科,成都610000

出　　处：《中华围产医学杂志》2023年第11期955-959,共5页Chinese Journal of Perinatal Medicine

摘　　要：本文报道了1例2次妊娠产前诊断胎儿22q11.2微缺失综合征孕妇。第1次妊娠因孕24周+4胎儿超声心动图提示右位主动脉弓、右位动脉导管伴左锁骨下动脉迷走,行羊膜腔穿刺术,羊水细胞染色体微阵列分析提示22q11.21区段杂合缺失2.181 Mb,提示胎儿为22q11.2微缺失综合征,遗传咨询后终止妊娠,但孕妇拒绝遗传学检测。第2次妊娠21周+5胎儿超声提示主动脉弓离断B型伴左锁骨下动脉迷走、室间隔缺损、后颅窝池增宽,羊水细胞染色体微阵列分析再次提示胎儿为22q11.2微缺失综合征。对孕妇行外周血染色体微阵列分析,发现22q11.21区段也存在2.181 Mb缺失。孕妇本人外貌无异常,仅有鼻音、腭咽闭合不全的表现。再次遗传咨询并告知再发风险后孕妇要求终止妊娠,并提醒其再次妊娠时行胚胎植入前遗传学诊断。第2次终止妊娠1年后孕妇的父亲53岁时出现心力衰竭,同时发现有鼻音,行静脉血低深度全基因组拷贝数变异测序确诊为22q11.2微缺失综合征。建议对产前诊断的22q11.2微缺失综合征胎儿的父母行遗传学检测,以评估再发风险,有利于遗传咨询。This article reports the prenatal diagnosis of 22q11.2 deletion syndrome(22q11.2 DS)in two consecutive pregnancies of a woman.Echocardiography on the first fetus at 24+4 gestational weeks identified the right aortic arch,and right-sided ductus arteriosus with aberrant left subclavian artery.Subsequently,an amniocentesis was performed,and chromosomal microarray analysis(CMA)of amniotic fluid revealed a 2.181 Mb heterozygous microdeletion of 22q11.21,which indicated the presence of 22q11.2 DS in the fetus.After genetic counseling,the pregnant woman decided to terminate the pregnancy and declined genetic testing.During her second pregnancy,ultrasound at 21+5 weeks detected interrupted aortic arch type B with aberrant left subclavian artery,ventricular septal defect,and enlarged posterior fossa in the fetus and further CMA of amniotic fluid indicated fetal 22q11.2 DS.CMA was performed on peripheral blood of the woman,which found the same deletion on 22q11.21.The woman had nasal sounds and velopharyngeal insufficiency with normal phenotype.Following the genetic counseling regarding the risk of recurrence,the pregnant woman opted to terminate the pregnancy and was suggested to undergo preimplantation genetic diagnosis in future pregnancies.One year after the second pregnancy termination,the woman's father developed heart failure at the age of 53 and was also found to have nasal sounds.Low-depth whole genome copy number variation sequencing in venous blood confirmed 22q11.2 DS in her father.For those with a prenatal diagnosis of 22q11.2 DS,genetic testing of the fetal parents is recommended to help assess the risk of recurrence and facilitate genetic counseling.

关 键 词：DIGEORGE综合征 产前诊断 微阵列分析 

分 类 号：R714.5[医药卫生—妇产科学]