Interpretation of Test Results

If carrier screening indicates that both partners are carriers, prenatal testing should be offered. The preferred method of testing is DNA analysis of known mutations.

For couples in which one partner is shown to be a carrier and the other partner is negative by targeted molecular testing, particularly if they are not Jewish, biochemical testing by measurement of the substrate in amniotic fluid is possible when the fetus has been shown to carry the one identified parental mutation.

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