Cai Meiying, Lin Na, Fan Xiangqun, Chen Xuemei, Xu Shiyi, Fu Xianguo, Xu Liangpu, Huang Hailong
Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, China.
Guangxi Medical University, Guangxi, China.
Front Pediatr. 2022 Jun 3;10:895562. doi: 10.3389/fped.2022.895562. eCollection 2022.
Aberrant right subclavian artery (ARSA) is becoming increasingly common in fetuses. However, there are relatively fewer studies regarding the genetic etiology of ARSA. We performed a genetic analysis of fetuses with ARSA and followed up on the pregnancy outcomes to evaluate the prognosis of the fetuses, providing information for prenatal and eugenic consultations.
This retrospective study included 112 pregnant females whose fetuses were diagnosed with ARSA from December 2016 to February 2021. Fetal karyotype analysis and single-nucleotide polymorphism (SNP) array were performed.
The 112 fetuses were divided into two groups: the isolated ARSA group ( = 48, 42.9%) and the non-isolated ARSA group (ARSA with other ultrasound abnormalities, = 64, 57.1%). The total rate of pathogenic copy number variation (CNV) observed using karyotype analysis (3/8) and SNP array (5/8) was 7.1% (8/112). The rates of pathogenic CNV in the isolated and non-isolated ARSA groups were 4.2% (2/48) and 9.4% (6/64), respectively. No significant difference was observed between the two groups ( = 0.463). The results of genetic analysis influenced the parents' decision to terminate the pregnancy. During the follow-up examination, fetuses with ARSA without pathogenic CNV were found to have normal growth and development after birth.
Fetuses with isolated ARSA have a low probability of being diagnosed with pathogenic CNV. However, when ARSA is complicated with other ultrasound abnormalities, the risk of pathogenic CNV remarkably increases. Prenatal genetic counseling and SNP-array should be recommended for better assessment of fetal prognosis.
迷走右锁骨下动脉（ARSA）在胎儿中越来越常见。然而，关于ARSA遗传病因的研究相对较少。我们对患有ARSA的胎儿进行了基因分析，并对妊娠结局进行了随访，以评估胎儿的预后，为产前和优生咨询提供信息。
这项回顾性研究纳入了2016年12月至2021年2月期间胎儿被诊断为ARSA的112名孕妇。进行了胎儿核型分析和单核苷酸多态性（SNP）阵列检测。
112例胎儿分为两组：孤立性ARSA组（n = 48，42.9%）和非孤立性ARSA组（伴有其他超声异常的ARSA，n = 64，57.1%）。使用核型分析（3/8）和SNP阵列（5/8）观察到的致病性拷贝数变异（CNV）总发生率为7.1%（8/112）。孤立性和非孤立性ARSA组的致病性CNV发生率分别为4.2%（2/48）和9.4%（6/64）。两组之间未观察到显著差异（P = 0.463）。基因分析结果影响了父母终止妊娠的决定。在随访检查中，未发现致病性CNV的ARSA胎儿出生后生长发育正常。
孤立性ARSA胎儿被诊断为致病性CNV的概率较低。然而，当ARSA合并其他超声异常时，致病性CNV的风险显著增加。建议进行产前遗传咨询和SNP阵列检测，以更好地评估胎儿预后。
