158. 結節性硬化症 Tuberous sclerosis Clinical trials / Disease details


臨床試験数 : 112 薬物数 : 71 - (DrugBank : 19) / 標的遺伝子数 : 35 - 標的パスウェイ数 : 118

  
1 trial found
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1ChiCTR-DDD-17010586
2016-01-012017-02-08Prenatal diagnosis of tuberous sclerosis by fetal echocardiography combined with high throughput gene sequencingPrenatal diagnosis of TSC using high-throughput gene sequencing combined with fetal echocardiography Tuberous sclerosis complexGold Standard:A Clinical diagnostic criteria of tuberous sclerosis (TSC) for the postnatal population
1. Definite diagnosis: 2 major features or 1 major feature and 2 minor teatures
2. Possible diagnosis: 1 major feature or 2 minor features
[major features: (1) Facial angiofibro or forehead plaque, (2) 'Nontraumatic' periungual&#;Index test:1. Prenatal diagnosis of TSC high-risk fetus by the traditional method (amniocentesis) using the gold standard;
2. Prenatal diagnosis of TSC high-risk fetus by maternal peripheral blood gene detection.;
An Zhen Hospital affiliated to Capital Medical University, Beijing;Beijing Key Laboratory of Fetal Heart Diseases and Maternal-Fetal MedicineNULLRecruitingFemaleTarget condition:30;Difficult condition:5China