How is pediatric chronic granulomatous disease (CGD) diagnosed prenatally?

Updated: Aug 07, 2019
  • Author: Lawrence C Wolfe, MD; Chief Editor: Cameron K Tebbi, MD  more...
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Prenatal diagnosis

Prenatal diagnosis for siblings of affected patients can be achieved in one of two ways. When a mutation is precisely identified in the affected child, chorionic villus biopsy can be performed to obtain enough DNA to identify affected fetuses. As an alternative, dinucleotide repeat polymorphisms linked to the CYBB gene may be useful in the prenatal diagnosis of X-CGD.

When these DNA detection methods are not available, fetal blood can be sampled and an NBT slide test performed.

Chorionic villus sampling is technically preferred because of its applicability early in gestation and the reduced risk of fetal loss.

If parents are not considering termination of a pregnancy, newborns can be tested by using the slide NBT or flow cytometric DHR tests because affected fetuses do not appear to be at increased risk of infection in utero.

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