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Fetal Biopsy

Definition

• Invasive procedure to obtain fetal tissue such as skin, muscle, or liver.

Use

• 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

Limitations

• High-risk procedures with value for a limited number of disorders

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