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Parents or legal guardian of neonates who signed agreement will receive SMA screening test if their neonates are affected with SMA. The dried blood spots of routine newborn screening samples will be used to test if neonates have lost 2 copies of SMN1 gene. If neonates have positive SMA screening test, further confirmation with multiplex ligation-dependent probe amplification (MLPA) test and prospective motor function monitoring including physical and neurological examinations will be proved to make SMA confirmation. For any confirmed SMA patient, genetic counseling and standard of care will be proved.
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.
Ages Eligible for Study:
up to 2 Weeks (Child)
Sexes Eligible for Study:
Accepts Healthy Volunteers:
Neonates whose parents agree to be tested.
Neonates born in Taiwan who receive regular newborn screening suggested by Ministry of Heath and Welfare.
Parents or legal guardian agree to perform SMA newborn screening.
Parents or legal guardian do not agree to perform SMA newborn screening.