Ultrasonographic features of fetus with 22q11.2 deletion syndrome

doi:10.3969/j.issn.1006-7795.2021.02.003

Abstract

Abstract: Objective To assess genotype-phenotype correlation of prenatally diagnosed fetal 22q11 deletion syndrome by fetal molecular genetic analysis and fetal ultrasound.Methods In this retrospective study, we analyzed 19 cases of fetus which were diagnosed prenatally as 22q11.2 deletion syndrome from January 1,2013 to October 31, 2020. Their clinical conditions, prenatal diagnosis indications, genotype and phenotypic features were assessed. Results Four cases were performed preatal diagnosis for abnormal plasma screen or non-invasive prenatal scan (NIPT), while 15 cases were for abnormal ultrasound. The most common fetal phenotype were fetal cardiac anomalies, such as right aortic arch(8/16),ventricular septal defects(5/16) and tetralogy of Fallot (5/16). Conclusion Abnormal ultrasound finding, especially cardiovascular anomalies was the main manifestation of the 22q11.2 syndrome. It is recommended to use copy numbers variation as the first line test for fetus with abnormal ultrasound.

Key words: 22q11.2 deletion syndrome, prenatal diagnosis, gene copy number variations, chromosomal abnormality

CLC Number:

R715.5

Hou Lei, Li Jieyan, Xing Yu, Liu Liheng, Wang Xin. Ultrasonographic features of fetus with 22q11.2 deletion syndrome[J]. Journal of Capital Medical University, 2021, 42(2): 183-187.

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URL: https://journal03.magtech.org.cn/Jweb_sdykdxxb/EN/10.3969/j.issn.1006-7795.2021.02.003

https://journal03.magtech.org.cn/Jweb_sdykdxxb/EN/Y2021/V42/I2/183

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