also known as Spinal muscular atrophy newborn screening panel
This panel screens the for carrier status of 3 prenatal diseases: Spinal muscular atrophy (SMA), Fragile X, and Cystic Fibrosis. Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by deletions or, less often, point mutation(s) in the SMN1 gene, leading to a reduction in the amount of survival motor neuron (SMN) protein. SMA is characterized by the progressive degeneration of the lower motor neurons, leading to muscle weakness and, in the most common type, respiratory failure by age two. This test is used to determine carrier status and prenatal diagnosis for spinal muscular atrophy. Muscles responsible for crawling, walking, swallowing, and head and neck control are the most severely affected. SMA has been known as congenital axonal neuropathy, arthrogryposis multiplex congenita (prenatal SMA), Werdnig-Hoffmann disease (SMA type I), Dubowitz disease (SMA type II) and Kugelberg-Welander disease (SMA type III). Fragile X syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. This test is recommended when an affected or carrier individual has already been identified in the family. This test is also used in the determination of fetal karyotype and prenatal diagnosis of Down syndrome or other chromosomal abnormalities. Also includes analysis of midtrimester amniotic fluid for detection of open neural tube defects. Neural tube defects are birth defects of the brain, spine, or spinal cord. Down syndrome is a genetic chromosome 21 disorder causing developmental and intellectual delays. Cystic fibrosis (CF) is a common genetic disorder resulting in chronic pulmonary and gastrointestinal/pancreatic disease. There is wide variability in clinical symptoms of cystic fibrosis. This test is used to help determine affected or carrier status for the 32 most common Cystic Fibrosis mutations. CF is inherited in a recessive manner, which means that both parents must be carriers to have an affected child. When both parents are carriers, there is a 25% chance with each pregnancy that the child will be affected. Genetic counseling and CF molecular testing are recommended for the reproductive partners and at-risk family members of CF carriers.