Fetal echocardiographic features and clinical phenotype of 22q11.2 microdeletion syndrome: analysis of 46 cases
10.3760/cma.j.cn113903-20190812-00498
- VernacularTitle:46例22q11.2微缺失综合征胎儿心脏超声特征及临床表型
- Author:
Xiaoyan HAO
1
;
Xiaowei LIU
;
Ye ZHANG
;
Jiancheng HAN
;
Ye LI
;
Hairui SUN
;
Yihua HE
Author Information
1. 首都医科大学附属北京安贞医院超声心动二部 胎儿心脏病母胎医学研究北京市重点实验室 100029
- From:
Chinese Journal of Perinatal Medicine
2020;23(6):387-393
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the fetal echocardiographic features and clinical phenotype of 22q11.2 microdeletion syndrome (22q11.2DS) and provide information for the diagnosis of fetal 22q11.2DS.Methods:We retrospectively retrieved information of 822 fetuses, who were diagnosed with congenital heart disease by fetal echocardiography, with results of low-coverage whole genome sequencing from the Genetic Database of Beijing Key Laboratory of Fetal Heart Disease and Maternal Fetal Medicine Research from January 2013 to April 2019. Phenotype, fetal echocardiographic features and genetic origin results of 46 fetuses with 22q11.2DS (22q11.2DS group) were summarized. Another 68 fetuses who were negative for 22q11.2DS but had conotruncal defects(CTD) were selected as control. Differences in fetal cardiac axis were compared between the two groups. Independent samples t test and Chi-square test were used for statistical analysis. Results:22q11.2DS was detected in 46 fetuses giving a total detection rate of 5.60% (46/822). The detection rates of 22q11.2DS in fetuses with CTD and non-CTD were 14.8% (45/305) and 0.2% (1/517), respectively ( χ2=74.253, P<0.001). Fetal cardiac axis was left-deviated in those with 22q11.2DS compared with those of the control [(61.7±15.3)°vs (55.7±13.4)°, t=-3.843, P=0.001]. Conclusions:CTD are the common clinical phenotypes of fetal 22q11.2DS. Fetal 22q11.2DS should be considered and the corresponding prenatal genetic diagnosis is highly suggested when the fetus is diagnosed with CTD especially combined with an enlarged cardiac angle.
