Analysis of 26 fetuses with congenital anomalies of the kidney and urinary tract by whole exome sequencing.
10.3760/cma.j.issn.1003-9406.2018.06.019
- Author:
Tingying LEI
1
;
Fang FU
;
Ru LI
;
Dan WANG
;
Dan YANG
;
Fang WANG
;
Xin YANG
;
Min PAN
;
Li ZHEN
;
Jin HAN
;
Dongzhi LI
;
Can LIAO
Author Information
1. Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong 510623, China. canliao6008@163.com.
- Publication Type:Journal Article
- MeSH:
Exome;
Female;
Fetus;
Humans;
Kidney;
pathology;
Pregnancy;
Urinary Tract;
pathology;
Urogenital Abnormalities;
genetics;
Whole Exome Sequencing
- From:
Chinese Journal of Medical Genetics
2018;35(6):856-859
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic etiology of fetuses with congenital anomalies of the kidney and urinary tract (CAKUT) by whole exome sequencing (WES).
METHODS:WES was performed on DNA extracted from cord blood samples of 26 fetuses with unexplained CAKUT with/without other structural anomalies. In the first 19 cases, sequencing was performed on fetal DNA only, and the turnaround time was 11-12 weeks. For the remaining 7 cases, the fetus and its parents were sequenced simultaneously, and the turnaround time was 8-9 weeks.
RESULTS:Of the 26 cases, pathogenic variants were identified in 4 (15.4%) cases, which respectively involved UMOD, NEK8, HNF1B, and BBS2 genes, and likely pathogenic variants were identified in 2 (7.7%) cases, which respectively involved HSPD1 and GRIN2B genes. Two of the 4 cases had other anomalies in addition to CAKUT. Thus, the detection rate was only 2/19 (10.5%) for isolated CAKUT and 4/7 (57.1%) for CAKUT with additional anomalies.
CONCLUSION:The application of WES as a prenatal diagnostic approach for CAKUT fetuses with or without other anomalies allowed early and accurate diagnosis and improved their clinical management.
