Diagnosis of a fetus with atelosteogenesis type 2 through combined prenatal ultrasonography and whole exome sequencing.
10.3760/cma.j.issn.1003-9406.2020.07.016
- VernacularTitle:产前影像学结合全外显子组测序诊断骨发育不全2型一例
- Author:
Jie LI
1
;
Yilin MENG
;
Meihui LI
;
Caixia LIU
;
Jesse LI-LING
;
Yuan LYU
Author Information
1. Department of Obstetrics and Gynecology, Shengjing Hospital of China Medical University, Key Laboratory of Maternal-Fetal Medicine of Liaoning Province, Shenyang, Liaoning 110004, China. hawk.lv@163.com.
- Publication Type:Journal Article
- From:
Chinese Journal of Medical Genetics
2020;37(7):767-770
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for fetus with short limbs detected by prenatal ultrasonography.
METHODS:Results of clinical imaging of the fetus was collected. Amniotic fluid sample was collected through amniocentesis for the extraction of fetal DNA. Whole exome sequencing was carried out to detect variants related to the clinical phenotypes. Candidate variant was verified by Sanger sequencing.
RESULTS:Prenatal ultrasound showed that the fetus had short limbs but no other abnormality. Whole exome sequencing has identified that the fetus carried two heterozygous pathogenic variants c.484G>T and c.1436dupA of the SLC26A2 gene, for which its mother and father were heterozygous carriers, respectively.
CONCLUSION:The fetus was diagnosed with atelosteogenesis type 2 by combined prenatal ultrasonography and whole exome sequencing, which may be attributed to the compound heterozygous variants of the SLC26A2 gene. Above findings provided evidence for the diagnosis of the fetus and genetic counseling.
