Prenatal exclusion of homocystinuria (cystathionine β-synthase deficiency) by assay of phytohaemagglutinin-stimulated fetal lymphocytes
- 1 April 1983
- journal article
- research article
- Published by Wiley in Prenatal Diagnosis
- Vol. 3 (2) , 127-130
- https://doi.org/10.1002/pd.1970030208
Abstract
Homocystinuria due to cystathionine β‐synthase deficiency was excluded in a fetus at 23 weeks' gestation by demonstrating activity of the enzyme in fetal lymphocytes after stimulation by phytohaemagglutinin. Fetal blood sampling was carried out because two determinations of enzyme activity on cultured amniotic cells gave low, not fully diagnostic values.Keywords
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