How is severe combined immunodeficiency (SCID) diagnosed prenatally?

Updated: Apr 28, 2021
  • Author: Robert A Schwartz, MD, MPH; Chief Editor: Harumi Jyonouchi, MD  more...
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Prenatal diagnosis may be attempted when the family history is positive for SCID. Available DNA tests allow for the identification of mutations involving ADA, RAG1/RAG2, JAK3, γC, IL-7 receptor, and Artemis, as well as many other gene mutations associated with the SCID phenotype.

Prenatal diagnosis is possible by chorionic villus sampling at 10 weeks’ gestation (or later) by amniocentesis, using DNA methodology in families for whom the exact mutations have been established.

Fetal blood sampling for fluorocytometric testing, mitogen responses, and enzyme levels can establish the diagnosis when DNA analysis is not available. Percutaneous umbilical blood sampling is performed to examine fetal blood for T-cell deficiency, as well as ADA enzyme levels.

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