Premium
Prenatal exclusion of homocystinuria (cystathionine β‐synthase deficiency) by assay of phytohaemagglutinin‐stimulated fetal lymphocytes
Author(s) -
Fensom A. H.,
Benson P. F.,
Crees M. J.,
Ellis Marie,
Rodeck C. H.,
Vaughan R. W.
Publication year - 1983
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970030208
Subject(s) - homocystinuria , cystathionine beta synthase , fetus , phytohaemagglutinin , homocysteine , prenatal diagnosis , medicine , endocrinology , enzyme , biology , pregnancy , biochemistry , methionine , stimulation , genetics , cysteine , amino acid
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.