Ataxia telangiectasia screening
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Screening
One of the defective screening test for newborn is severe combined immunodeficiency (SCID), which detect T cells and B cells deficiency or absence from infant dried blood spots. Although there is no modifying therapy or cure for A-T recently, SCID screening test allows for early family education and genetic counseling.
Pre-implantation genetic diagnosis (PGD) can avoid the birth of an affected child. By this screening test, parents who have an affected child (or children) with A-T take its advantages.
Antenatal diagnosis can also be performed using haplotype analysis if a diagnosis has been made for the affected child. In this case, DNA polymorphisms within and around the ATM gene can be utilized even if the pathogenic mutations are not known. [1]