Bovine aortic arch: a potential indicator that may not serve in prenatal diagnosis - a study based on fetal anatomy, genetics, and postnatal clinical outcomes

被引:0
|
作者
Liu, Yu [1 ]
Gao, Chuanfen [1 ]
Zhou, Yi [1 ]
Zhao, Sheng [1 ]
Shuai, Xiufang [1 ]
Zhao, Enfa [1 ]
Chen, Feng [2 ]
Zhang, Chaoxue [1 ]
机构
[1] Anhui Med Univ, Affiliated Hosp 1, Dept Ultrasound, 218 Jixi Rd, Hefei 230022, Anhui, Peoples R China
[2] 901 Hosp Joint Serv Peoples Liberat Army, Dept Ultrasound, Hefei 230031, Peoples R China
关键词
Bovine aortic Arch; Prenatal Ultrasound Screening; Fetal structural abnormalities; Chromosomal Karyotype; ANOMALIES;
D O I
10.1186/s12884-024-06852-x
中图分类号
R71 [妇产科学];
学科分类号
100211 ;
摘要
ObjectiveTo investigate the structural abnormalities, genetic results, and postnatal clinical outcomes of fetuses with bovine aortic arch (Bovine Aortic Arch, BAA) to provide a basis for prenatal counseling and management.MethodsA retrospective analysis was conducted on 216 fetuses diagnosed with bovine aortic arch through prenatal ultrasound screening at the First Affiliated Hospital of Anhui Medical University and the No.901 Hospital of the Joint Service of the People's Liberation Army from January 2019 to February 2023. Their family history of genetic diseases, prenatal screening results, and postnatal follow-up data were collected. The fetuses were divided into an isolated BAA group (n = 192) and a non-isolated BAA group (n = 24). Chromosomal karyotyping and copy number variation (CNV) testing were conducted, and statistical analysis was performed using SPSS 22.0 software.ResultsOf the 216 fetuses with BAA, 192 were isolated BAA (88.89%), and 24 were non-isolated BAA (11.11%). Among the isolated BAA fetuses, only 1 case (0.52%) had chromosomal karyotype and pathogenic CNV abnormalities. Among the non-isolated BAA fetuses, 4 cases (16.67%) had chromosomal or CNV abnormalities, but the overall risk was low. The postnatal outcomes of isolated BAA fetuses were good (99.48%), while 79.17% of non-isolated BAA fetuses had good postnatal outcomes.ConclusionMost BAA fetuses are isolated, with a very low incidence of chromosomal abnormalities and pathogenic CNVs, and have good postnatal outcomes. The clinical value of isolated BAA is limited, and invasive prenatal diagnosis is not recommended for low-risk populations. Prenatal screening should focus on the risk of concurrent severe structural anomalies and chromosomal abnormalities.
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页数:9
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