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Subject: Fetal Biopsy
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Invasive procedure to obtain fetal tissue such as skin, muscle, or liver.
Diagnosis of specific inherited disorders when gene mutation is unknown
Liver biopsy for specific inherited metabolic disorders (e.g., ornithine transcarbamylase deficiency, carbamoyl phosphate synthetase deficiency, G6PD [type 1a])
Skin biopsy for specific genetic skin disorders (e.g., epidermolysis bullosa)
Muscle biopsy for Duchenne muscular dystrophy
High-risk procedures with value for a limited number of disorders