Abstract
Objectives
To optimize a simple flowcytometric technique for Prenatal diagnosis (PND) for Leukocyte adhesions defect (LAD-I) on cordocentesis sample at 18 wk gestation.
Methods
Normal reference ranges for expression of CD18/CD11-integrins in neutrophils and lymphocytes at 18 wk of gestation were established by flowcytometry. PND for LAD-I was then performed on the cordocentesis samples in three ‘at risk’ pregnancies after ruling out maternal contamination.
Results
CD18 and CD11a expression on fetal lymphocytes were found to be the most useful parameters for PND of LAD-I. All the three fetuses tested showed normal expression of CD18/CD11-integrins and thus were unaffected. This was confirmed by testing the cord blood (CB) samples after delivery and normal growth and absence of serious infections on follow-up.
Conclusions
Flowcytometry offers a rapid and sensitive technique for PND of LAD-I in the absence of facilities for molecular diagnosis. Obstetricians, even in developing countries with modest facilities, can offer considerable relief for the families.
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Role of Funding Source
Indian Council of Medical research (ICMR) provided funding for diagnosis of Primary Immunodeficiency disorders and to provide prenatal diagnosis.
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Madkaikar, M.R., Gupta, M., Rao, M. et al. Prenatal Diagnosis of LAD-I on Cord Blood by Flowcytometry. Indian J Pediatr 79, 1605–1609 (2012). https://doi.org/10.1007/s12098-012-0737-5
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DOI: https://doi.org/10.1007/s12098-012-0737-5