Prenatal ultrasound diagnosis of tuberous sclerosis complex：a case report
10.3760/cma.j.cn131148-20241212-00646
- VernacularTitle:产前超声诊断结节性硬化症1例
- Author:
Xing HU
1
;
Yuanji ZHANG
1
;
Jiuping LI
1
;
Yi XIONG
1
Author Information
1. 深圳大学第三附属医院 深圳市罗湖区人民医院超声科，深圳 518020
- Publication Type:Journal Article
- Keywords:
Ultrasonography，prenatal;
Tuberous sclerosis complex;
Cardiac rhabdomyoma;
Tuberous sclerosis complex 2 gene;
Genetic counseling
- From:
Chinese Journal of Ultrasonography
2025;34(6):537-539
- CountryChina
- Language:Chinese
-
Abstract:
Tuberous sclerosis complex（TSC）is an autosomal dominant genetic disorder characterized by benign tumors in multiple systems，with prenatal involvement primarily affecting the heart and nervous system. Its incidence is approximately 1/6 000 - 1/10 000. The pregnant woman was 36-year-old with 26-week pregnancy and no history of hereditary diseases，underwent fetal echocardiography at Shenzhen Luohu People's Hospital. At 21 weeks' gestation，ultrasound showed fetal left atrial mass，suggesting cardiac myxoma. At 23 weeks' gestation，ultrasound showed multiple hyperechoic nodules in the ventricles，suggesting Tuberous sclerosis.Amniocentesis was subsequently performed. At 26 weeks' gestation，multiple intracranial nodules appeared，suggestive of Tuberous sclerosis complex. Finally，genetic testing of amniocentesis revealed heterozygous mutation of c.5228 G>A in the TSC2 gene of the tested individual，which was not carried by parents. The woman ultimately terminate the pregnancy. The author reviews this case and in conjunction with the literature，analyzes the prenatal ultrasonographic features of this disease，in order to remind sonographers to effectively improve the diagnosis of TSC，thereby reducing the rate of missed and misdiagnoses.
