Fetal Smith-Magenis syndrome diagnosed after pregnancy termination by low-coverage whole-genome sequencing: a report of two cases
10.3760/cma.j.issn.1007-9408.2019.03.008
- VernacularTitle:低深度全基因组测序引产后诊断胎儿Smith-Magenis综合征二例
- Author:
Ye LI
1
;
Xiaoyan HAO
;
Xiaowei LIU
;
Baojuan SUN
;
Hairui SUN
;
Xiaoyan GU
;
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
- Keywords:
Smith-Magenis syndrome;
Whole genome sequencing;
Ultrasonography;
prenatal
- From:
Chinese Journal of Perinatal Medicine
2019;22(3):194-198
- CountryChina
- Language:Chinese
-
Abstract:
We reported two fetal cases diagnosed with Smith-Magenis syndrome.One case was found with bilateral ventriculomegaly,double-outlet right ventricle,pulmonary stenosis and ventricular septal defect when performing fetal echocardiography.Then the fetus was diagnosed with severe tetralogy of Fallot and tortuous ductus arteriosus by autopsy.The other case was suggested to have tetralogy of Fallot,right aortic arch and ectopic ductus arteriosus by fetal echocardiography,which was later confirmed by autopsy.Both of the two pregnancies were terminated.Tissue samples of the two fetuses were analyzed by the low-coverage whole-genome sequencing,and both cases carried a microdeletion of 3.63 Mb and 4.86 Mb in chromosome 17pl 1.2,which overlapped with the missing segments causing Smith-Magenis syndrome.Therefore,the two fetuses were both diagnosed with Smith-Magenis syndrome.
