Papers And Originals

Prenatal Diagnosis of Galactosaemia

Br Med J 1974; 4 doi: http://dx.doi.org/10.1136/bmj.4.5941.386 (Published 16 November 1974) Cite this as: Br Med J 1974;4:386
  1. A. H. Fensom,
  2. P. F. Benson,
  3. S. Blunt

    Abstract

    We have monitored two pregnancies from families at risk for galactosaemia. The fetus was diagnosed as having galactosaemia in one and to be unaffected in the other. The accuracy of the predictions was confirmed postnatally. Assays for galactose 1-phosphate uridyl transferase involving the reduction of the coenzymes NAD or NADP are unsuitable for amniotic cells whereas estimation of 14C-UDP-galactose produced from 14C-galactose 1-phosphate detected the homozygous mutant fetus.