๐”– Bobbio Scriptorium
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Prenatal diagnosis of chronic granulomatous disease

โœ Scribed by Matthay, Katherine K. ;Golbus, Mitchell S. ;Wara, Diane W. ;Mentzer, William C. ;Karp, Laurence E.


Publisher
John Wiley and Sons
Year
1984
Tongue
English
Weight
515 KB
Volume
17
Category
Article
ISSN
0148-7299

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โœฆ Synopsis


A luminol enhanced chemiluminescence micromethod has been adapted for use in prenatal diagnosis of chronic granulomatous disease (CGD). After validation of the assay in normal adults, newborns, fetuses, CGD carriers, and CGD patients, the fetuses of two pregnant CGD carriers were tested after fetoscopic aspiration of fetal blood. Normal neutrophil chemiluminescence and nitroblue tetrazolium slide tests were followed by delivery of two healthy infants whose normality was confirmed. Amniocytes proved useless for the prenatal diagnosis of CGD. They were found to have negligible nitroblue tetrazolium reduction, oxygen metabolism, and oxygen dependence.


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