Maple Syrup Urine Disease is diagnosed by a newborn screening program. MSUD is part of all newborn screening tests in all 50 states. Below is a link of the National Newborn Screening Status from 2014. It will list off all of the chronic disease that are tested in newborns after birth.
National Newborn Screening Test Status
Women can also test during pregnancy. They can do DNA testing or enzyme testing for the fetus cells, however the samples would be taken from the CVS or the aminocentesis of the fetus (Star-G, Screening, Technology, and Research in Genetics). These are very invasive tests for the fetus and should be consulted by a doctor. Below is an image of how the test would be done during pregnancy.
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Image taken from http://hrsbstaff.ednet.ns.ca/morrison/Advanced%20Biology%2012/adv_bio_12_karyotyping_assign.htm
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