Fetal Biopsy

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Subject: Fetal Biopsy

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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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