Prenatal Diagnosis of Cytochrome C Oxidase Deficiency by Biopsy of Chorionic Villi

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Abstract
To the Editor: Chorionic villi have become increasingly important in antenatal diagnosis. The tissue is used for the detection of chromosomal abnormalities and occasionally for the investigation of enzyme activities. Enzyme deficiencies can be determined more than two months earlier in pregnancy when chorionic villi are used instead of cultured amniocytes. Enzymatic examination of chorionic villi deserves particular attention in cases of mitochondrial myopathies, since the defect cannot usually be demonstrated in fibroblasts of patients with a mitochondrial enzyme defect in muscle or liver tissue.1 , 2 The current methods for measuring mitochondrial enzyme activities appear to be inadequate for application to . . .

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