Prenatal diagnosis of carbamyl phosphate synthetase deficiency by fetal liver biopsy
Murotsuki, J.; Uehara, S.; Okamura, K.; Yajima, A.; Kikuchi, M.; Oura, T.; Miyabayashi, S.
Nihon Sanka Fujinka Gakkai Zasshi 43(12): 1613-1616
1991
ISSN/ISBN: 0300-9165 PMID: 1744457 Document Number: 370744
Carbamyl phosphate synthetase deficiency (CPSD) is one of the enzyme defects of the urea cycle and inherited as an autosomal recessive. A definitive enzymatic diagnosis of CPSD can be made by biochemical assay of liver biopsy material, but not of cultured fibroblasts. In pregnancy at risk for CPSD, prenatal diagnosis was attempted by fetal liver biopsy, performed at 22 weeks of gestation. CPS activity was present and a healthy baby was delivered at term. The technique employed for fetal liver biopsy is described together with an evaluation of its possible role in prenatal diagnosis.