The problems likely to be encountered and the limitations of present methods of pre-natal diagnosis of inborn errors of metabolism by assay of the deficient enzyme activity is emphasised. Particular attention is given to the problems of testing the correct enzyme deficiency, choosing the most appropriate foetal sample, and of minimising the effects of maternal contamination.
For those disorders which are recessively inherited, the feasibility of mass screening for the detection of marriages between carriers is considered as a means whereby all foetuses at risk for a given condition may be recognised.
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