Newborn Screening for Spinal Muscular Atrophy

Newborn Screening for Spinal Muscular Atrophy

To test if the routine newborn screening dried blood spots can be used to test if missing 2 copies of SMN1 gene, a status indicating spinal muscular atrophy

Parents of newborns will be invited to test if their newborns are affected with SMA. The routine newborn screening dried blood spots sample will be used to test if missing 2 copies of SMN1 gene. If positive of screening test, further confirmation tests including physical examination and other methology for SMN1 gene copies quantification will be provided. Genetic counseling and treatment option will be provided, too.

Inclusion Criteria:

• Babies born in Taiwan receive regular new born screening suggested by Ministry of Heath and Welfare.
• Parents or Legal Guardian sign in the informed consent form.

Exclusion Criteria:

• Parents or Legal Guardian do not agree to sign in the informed consent form.