摘要
目的:探讨单纯性右位主动脉弓合并左锁骨下动脉迷走(RAA-ALSA)胎儿的遗传学特点及妊娠结局。方法:选取2019年5月至2021年12月郑州大学第三附属医院产前超声诊断为RAA-ALSA的胎儿共95例,分析孕期遗传学检测结果,随访妊娠结局及产后患儿情况。结果:95例RAA-ALSA胎儿中,53例在孕期行羊水染色体微阵列分析,检出异常4(7.5%)例。随访95例RAA-ALSA胎儿妊娠结局,4例终止妊娠,91例活产。经阴道分娩64例,剖宫产分娩27例;随访患儿2~26个月,91例患儿中2例行手术治疗,其中1例出生后1 d因呼吸喘鸣行手术治疗,另外1例出生后11个月因反复呼吸道感染行手术治疗,余89例患儿未发生呼吸道及消化道异常症状,目前生长发育未见异常。结论:RAA-ALSA胎儿存在染色体异常风险,需行染色体拷贝数变异检测;分娩地点应选择具备新生儿支持的医院;患儿出生后出现气管、食管受压症状时需手术干预。
Aim:To investigate the genetic characteristics and pregnancy outcome of simple fetuses with right aortic arch combined with aberrant left subclavian artery(RAA-ALSA).Method:A total of 95 fetuses diagnosed as RAA-ALSA by prenatal ultrasound in the Third Affiliated Hospital of Zhengzhou University from May 2019 to December 2021 were selected to analyze the genetic test results during pregnancy,the pregnancy outcome obtained by follow-up,and the conditions of the infants after delivery.Results:Among 95 RAA-ALSA fetuses,53 underwent amniotic fluid chromosomal microarray analysis during pregnancy,and 4 cases(7.5%) were found abnormal.Out of whom,64 were vaginally delivered,27 were delivered by cesarean section,and the pregnancy of 4 cases was terminated.The pregnancy outcome of the 95 fetuses with RAA-ALSA were followed up for 2 to 26 months.In 91 cases born alive,2 cases received surgical treatment(1 underwent surgery 1 day after birth due to stridulous breathing,and the other one underwent surgery 11 months after birth due to recurrent respiratory tract infection).No abnormal respiratory tract or digestive tract symptoms occurred in the rest 89 cases,and no growth and development abnormity had been observed so far.Conclusion:The fetuses with RAA-ALSA have the risk of abnormal chromosomes,and should be tested for copy number variation.The place of delivery should be a hospital with neonatal support.Surgical intervention is needed when trachea or esophagus compression occur in infants after birth.
作者
翟闪闪
刘灵
李静
袁莉敏
赵岚岚
郭静
ZHAI Shanshan;LIU Ling;LI Jing;YUAN Limin;ZHAO Lanlan;GUO Jing(Prenatal Diagnosis Center,the Third Affiliated Hospital,Zhengzhou University,Zhengzhou 450052)
出处
《郑州大学学报（医学版）》
CAS
北大核心
2022年第6期866-869,共4页
Journal of Zhengzhou University(Medical Sciences)
基金
河南省科技发展计划项目(202102310471)。
关键词
右位主动脉弓
左锁骨下动脉迷走
血管环
产前诊断
妊娠结局
right aortic arch
aberrant left subclavian artery
vascular ring
prenatal diagnosis
pregnancy outcome
