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. 1974 Nov 16;4(5941):386-7.
doi: 10.1136/bmj.4.5941.386.

Prenatal diagnosis of galactosaemia

A H Fensom, P F Benson, S Blunt

Prenatal diagnosis of galactosaemia

A H Fensom et al. Br Med J. .

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 (14)C-UDP-galactose produced from (14)C-galactose 1-phosphate detected the homozygous mutant fetus.

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