Ultrasound combined with whole-exome sequencing for the diagnosis of fetal congenital chloride diarrhea: a case report
10.3760/cma.j.cn113903-20240601-00390
- VernacularTitle:超声联合全外显子组测序诊断胎儿期先天性失氯性腹泻1例
- Author:
Longfei SHI
1
;
Xiangdang LONG
;
Sui YAO
;
Qiongli WEN
;
Gang ZHONG
;
Xuan CHEN
;
Yongfang XI
Author Information
1. 湖南师范大学附属第一医院（湖南省人民医院）超声医学科，长沙 410005
- Publication Type:Journal Article
- Keywords:
Ultrasound;
Whole-exome sequencing;
Congenital chloride diarrhea;
SLC26A3 gene
- From:
Chinese Journal of Perinatal Medicine
2025;28(1):74-76
- CountryChina
- Language:Chinese
-
Abstract:
This paper reported a case of fetal congenital chloride diarrhea (CCD) indicated by prenatal ultrasound and confirmed by whole-exome sequencing. At 26 weeks and two days of gestation, a routine prenatal ultrasound revealed fetal bowel dilation and numerous floating echogenic particles in the amniotic fluid, suggesting the possibility of CCD. Multiple follow-up ultrasounds in late pregnancy showed persistent bowel dilation, polyhydramnios with numerous floating echogenic particles, and fetal development larger than the gestational age. Whole-exome sequencing and Sanger validation revealed two compound heterozygous mutations in the fetal SLC26A3 gene: c.2006C>A (p.S669*) inherited from the mother and c.1355T>A (p.L452Q) inherited from the father, leading to a diagnosis of CCD. Postnatally, the infant exhibited persistent watery diarrhea. Based on prenatal ultrasound and diagnostic results, the infant was immediately given intravenous and oral electrolyte supplementation after birth, preventing severe electrolyte imbalance. As of June 2024, the infant was five months old, with follow-up showing good growth and development.
