103例胎儿孤立性迷走右锁骨下动脉的染色体分析

Chromosome analysis of 103 fetuses with isolated aberrant right subclavian artery

目的探讨孤立性迷走右锁骨下动脉(aberrant right subclavian artery,ARSA)胎儿染色体异常的发生率和类型,为孕妇的产前管理和临床咨询提供依据。方法选择2015年1月至2020年12月在广东省妇幼保健院超声科诊断为孤立性ARSA的胎儿共103例,所有胎儿均在早孕期行唐氏筛查,中、晚孕期行Ⅲ级产前超声检查、超声心动图检查及染色体检查,孕妇年龄(31.1±5.30)岁。结果所有孤立性ARSA胎儿中染色体异常9例(8.7%),包括21-三体2例、Turner综合征2例、意义不明基因拷贝数变异(copy number variation,CNV)3例、17p12缺失1例、47XYY 1例,未发现18-三体及22q11微缺失。结论孤立性ARSA可能是21-三体和其他染色体异常的唯一产前预测因子,产前超声检查ARSA具有一定的临床价值。

Objective To explore the incidence and type of chromosomal abnormalities in fetuses with isolated aberrant right subclavian artery(ARSA)and provide evidences for the prenatal management and clinical consultation.Methods A total of 103 fetuses who were diagnosed as isolated ARSA from January 2015 to December 2020 were selected from the Department of Ultrasound of Guangdong Maternal and Child Health Hospital.All fetuses were screened for Down's syndrome during the first trimester,and gradeⅢprenatal ultrasound,fetal echocardiography,and chromosome examination during the second and third trimester.The age of pregnant women was(31.1±5.30)years old.Results There were 9 cases of chromosome abnormalities(8.7%)in all fetuses with isolated ARSA,including 2 cases of trisomy 21,2 cases of Turner syndrome,3 cases of unknown copy number variation(CNV),1 case of 17p12 deletion,and 1 case of 47XYY.Neither trisomy 18 nor 22q11 microdeletion cases were found.Conclusions Isolated ARSA may be the only prenatal predictor of trisomy 21 and other chromosome abnormalities.Prenatal ultrasonography of ARSA has certain clinical value.