Screening
Carrier testing
Carrier testing of women who give birth to a child with Lesch-Nyhan disease (LND) should be performed, as well as genetic counselling, to determine the risk of having more affected children. Other female family members could also be screened to determine their risk. This is most conveniently and adequately performed by molecular techniques (i.e., genetic testing), particularly if a mutation has been characterised in the affected LND patient.[35] Mothers of affected boys are not necessarily obligate carriers because of possible de novo mutation during gametogenesis or early development. Even after negative screening results for the mother, subsequent pregnancies should be monitored because the risk of gonadal mosaicism.[35] The use of hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity levels as a screening instrument is insufficiently accurate.[3]
Antenatal testing
All pregnancies of a carrier should be monitored if termination of affected pregnancies is being considered. Genetic testing for a mutation in the HPRT gene in amniotic fluid or chorionic villus samples provides the earliest opportunity and most accurate means for deciding on a therapeutic abortion if this is desired.[35] Measuring HPRT activity in amniotic fluid or chorionic villus samples is not recommended, because it can only be performed at least 2 months after conception and is subject to sampling error.[3]
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