Attitudes of families affected by adrenoleukodystrophy toward prenatal diagnosis, presymptomatic and carrier testing, and newborn screening.

[adrenomyeloneuropathy]

Families affected by adrenoleukodystrophy (ALD ) and adrenomyeloneuropathy (AMN ) were surveyed to elicit attitudes toward prenatal , presymptomatic and carrier testing , and newborn screening in order to determine the level of support that these families have for current and future genetic testing protocols . Identifying attitudes toward genetic testing , including newborn screening , is especially important because of new data regarding therapeutic options and the possible addition of ALD to newborn screening regimens . The Kennedy Krieger Institute (KKI ) database identified 327 prospective participants . Families that were willing to participate in the study received an anonymous questionnaire for completion . Frequencies were generated using SPSS software for Windows . Questionnaires were returned from 128 families for a response rate of 39 %. Sons who were at risk for inheriting the ALD gene would be tested by 93 % of respondents , and 89 .3 % would ideally have this testing performed prenatally or in the newborn period . Eighty -nine percent would test an at -risk daughter and 51 .2 % would ideally have this testing performed prenatally or shortly after birth . ALD newborn screening for males and females was supported by 90 % of respondents . If newborn screening for ALD /AMN commences , or there is a new diagnosis of ALD , genetic professionals need to be prepared to have extensive conversations with families regarding the benefits and limitations of current therapeutic and genetic testing options .