Ataxia telangiectasia screening: Difference between revisions
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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. | |||
<br> 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. | |||
<br> 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. <ref>{{https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5123280}}</ref> | |||
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[[Category:Needs overview]] | |||
[[Category:Disease]] | |||
[[Category:Neurology]] | |||
[[Category:Genetic disorders]] | |||
Latest revision as of 17:58, 13 June 2020
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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]