[Diagnosis of a fetus with atelosteogenesis type 2 through combined prenatal ultrasonography and whole exome sequencing].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(7): 767-770, 2020 Jul 10.
Article
em Zh
| MEDLINE
| ID: mdl-32619261
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Osteocondrodisplasias
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Female
/
Humans
/
Pregnancy
Idioma:
Zh
Ano de publicação:
2020
Tipo de documento:
Article