NDLI: Rapid Flow Cytometric Prenatal Diagnosis of Primary Immunodeficiency (PID) Disorders

Content Provider	Springer Nature Link
Author	Mishra, Anju Gupta, Maya Dalvi, Aparna Ghosh, Kanjaksha Madkaikar, Manisha
Copyright Year	2014
Abstract	Primary Immunodeficiency diseases (PID) are a heterogeneous group of inherited disorders of immune system. Immunophenotypic evaluation of PIDs using flowcytometry provides important clues for diagnosis of these disorders, though confirmation requires identification of underlying molecular defects. Prenatal diagnosis (PND) forms an important component of management in families affected with severe PID. However, molecular diagnostic facilities for each of these diseases are not available and may not be possible to perform in all cases. In such scenario we opted for phenotypic prenatal diagnosis by cordocentesis for families with index case having immunophenotypically well characterized PID.Normal reference ranges of lymphocyte subsets, CD 18/CD11 integrins on leukocytes, MHC class II expression and oxidative burst activity of fetal neutrophils at 18 weeks of gestation were previously established on 30 cord blood samples. PND was performed in 13 families with PIDs. Maternal contamination was ruled out by VNTR analysis.Out of 13 fetuses, nine were found to be unaffected (three cases with leukocyte adhesion deficiency (LAD-I), four cases with severe combined immunodeficiency diseases (SCID), one with X-linked agammaglobulinemia (XLA), and one with chronic granulomatous disease (CGD)] and three were found to be affected (one with T-B+NK-SCID, one with MHC class II deficiency and one with LAD-I). Diagnosis was confirmed by testing the cord blood samples after delivery and further follow-up of the children. In one family diagnosis could not be offered due to maternal contamination. No procedure related complications were observed.Flowcytometry offers rapid and sensitive method for prenatal diagnosis and genetic counseling for selected phenotypically well characterized PID in cases where molecular diagnostic facilities are not available.
Starting Page	316
Ending Page	322
Page Count	7
File Format	PDF
ISSN	02719142
Journal	Journal of Clinical Immunology
Volume Number	34
Issue Number	3
e-ISSN	15732592
Language	English
Publisher	Springer US
Publisher Date	2014-02-18
Publisher Place	Boston
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	immunodeficiency disorders prenatal diagnosis, cordocentesis, SCID antibody deficiency phagocytic defects Immunology Infectious Diseases Internal Medicine Medical Microbiology
Content Type	Text
Resource Type	Article
Subject	Immunology and Allergy Immunology

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