Prenatal diagnosis of fetal complex cortical dysplasia with other brain malformations 4: a case report
10.3760/cma.j.cn113903-20250122-00043
- VernacularTitle:产前诊断复杂型脑皮质发育不良伴其他脑畸形4型胎儿1例
- Author:
Youlan WU
1
;
Yawen QIANG
;
Chuanfen GAO
;
Jing YUAN
;
Fang LIU
;
Weisheng CHENG
Author Information
1. 安徽医科大学第一附属医院妇产科，合肥 230022
- Publication Type:Journal Article
- Keywords:
Complex cortical dysplasia with other brain malformations 4;
TUBG1 gene;
Whole-exome sequencing;
Prenatal diagnosis
- From:
Chinese Journal of Perinatal Medicine
2025;28(8):693-696
- CountryChina
- Language:Chinese
-
Abstract:
This report described a fetus with prenatal ultrasound findings of microcephaly, lateral ventriculomegaly, and shallow lateral Sylvian fissures, ultimately diagnosed with complex cortical dysplasia with other brain malformations 4 through family-based whole-exome sequencing. At 25 weeks of gestation, prenatal ultrasound revealed fetal microcephaly, mild ventriculomegaly, and shallow Sylvian fissures. Neither chromosomal karyotyping nor chromosomal microarray analysis detected abnormalities. Family-based whole-exome sequencing identified a de novo heterozygous missense variant in TUBG1 gene [c.511G>C (p.Val171Leu)], leading to a diagnosis of complex cortical dysplasia with other brain malformations 4. Following genetic counseling, the pregnancy was terminated.
