How is severe combined immunodeficiency (SCID) diagnosed prenatally?

Updated: May 27, 2020
  • Author: Francisco J Hernandez-Ilizaliturri, MD; Chief Editor: Emmanuel C Besa, MD  more...
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Answer

For a prenatal diagnosis, restriction fragment length polymorphism (RFLP)can help detect genetic defect carriers of XHM, WAS, and ADA deficiency using fetal blood, amnion cells, or chorionic villus tissue. Umbilical cord blood can be used in the prenatal diagnosis of some of these disorders.

T cells are absent in persons with XSCID. B cells and T cells are absent in patients with autosomal recessive SCID. "Bald" lymphocytes found on scanning electron microscopy are diagnostic of WAS. Red blood cell ADA is decreased in fetuses with ADA deficiency.


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