[Whole exome sequencing analysis of 37 fetuses with cardiac abnormalities].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 41(8): 903-908, 2024 Aug 10.
Article
en Zh
| MEDLINE
| ID: mdl-39097270
ABSTRACT
OBJECTIVE:
To explore the genetic etiology of fetuses with congenital heart disease (CHD) through whole exome sequencing (WES).METHODS:
Thirty seven fetuses identified with CHD by prenatal ultrasonography but with negative results by chromosomal microarray analysis (CMA) at Jinhua Maternal and Child Health Care Hospital from January 2020 to June 2022 were selected as the study subjects, for whom WES was carried out.RESULTS:
WES and Sanger sequencing had detected 6 pathogenic or likely pathogenic variants, and 6 variants with unknown clinical significance. The variants had involved 15 loci within 11 genes, in addition with one copy number variation.CONCLUSION:
WES can increase the detection rate for genetic abnormalities among fetuses with CHD, which can facilitate the prenatal diagnosis, evaluation of prognosis and genetic counseling for the couples.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Diagnóstico Prenatal
/
Secuenciación del Exoma
/
Cardiopatías Congénitas
Límite:
Female
/
Humans
/
Pregnancy
Idioma:
Zh
Revista:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Asunto de la revista:
GENETICA MEDICA
Año:
2024
Tipo del documento:
Article
País de afiliación:
China
Pais de publicación:
China