Associated congenital anomalies and genetic anomalies in fetuses with isolated and non-isolated aberrant right subclavian artery

作者全名："Luo, Tiantian; Liu, Shuang; Ran, Suzhen; Dong, Hongmei; Li, You; Ran, Qian"

作者地址："[Luo, Tiantian; Liu, Shuang; Ran, Suzhen; Dong, Hongmei; Li, You; Ran, Qian] Chongqing Med Univ, Dept Ultrason, Women & Childrens Hosp, Chongqing, Peoples R China; [Luo, Tiantian; Liu, Shuang; Ran, Suzhen; Dong, Hongmei; Li, You; Ran, Qian] Chongqing Hlth Ctr Women & Children, Dept Ultrason, Chongqing, Peoples R China"

通信作者："Ran, SZ (通讯作者)，Chongqing Med Univ, Dept Ultrason, Women & Childrens Hosp, Chongqing, Peoples R China.; Ran, SZ (通讯作者)，Chongqing Hlth Ctr Women & Children, Dept Ultrason, Chongqing, Peoples R China."

来源：JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE

ESI学科分类：CLINICAL MEDICINE

WOS号：WOS:000998009000001

JCR分区：Q3

影响因子：1.7

年份：2023

卷号：36

期号：1

开始页：　

结束页：　

文献类型：Article

关键词：Aberrant right subclavian artery; congenital anomalies; genetic anomalies; fetal

摘要："Objective This study's aim was to determine the prevalence of chromosomal anomalies in fetuses with isolated and non-isolated aberrant right subclavian artery (ARSA) and to evaluate its association with other congenital anomalies. Methods From September 2018 to October 2021, 668 ARSA cases were diagnosed by prenatal ultrasound in our hospital; cases with missed visits and a lack of chromosomal findings were excluded and 363 cases were eligible for enrollment. General information, ultrasound presentation, chromosomal findings and pregnancy outcomes were retrospectively analyzed. Results Among the 363 cases, 296 were isolated, and 67 were associated with structural abnormalities or soft marker abnormalities. The proportion of fetuses with chromosomal abnormalities in the isolated ARSA group was significantly lower than that in the non-isolated ARSA group (p < .001). In the non-isolated ARSA group, 22 cases were combined with other soft marker abnormalities and 45 cases were combined with structural abnormalities. The most frequent structural abnormality coexisting with ARSA was cardiac malformations (38.81%). Conclusion The most common combined malformation in ARSA is intracardiac malformation. Isolated ARSA has a low risk of chromosomal abnormalities, so invasive chromosomal testing is not recommended. Non-isolated ARSA has a high incidence of chromosomal abnormalities, so early karyotyping should be recommended."

基金机构：National Key Clinical Speciality Construction Project (Obstetrics and Gynecology); Chongqing Appropriate Health Technology Promotion Project [2018jstg001]

基金资助正文：This study was funded by National Key Clinical Speciality Construction Project (Obstetrics and Gynecology) and Chongqing Appropriate Health Technology Promotion Project (Grant No.2018jstg001). This funding source was not involved in any aspects of the research presented in this manuscript.