title: Rapid Flow cytometric prenatal diagnosis of primary immunodeficiency (PID) disorders.
abstract: OBJECTIVE
  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.
  
  
  METHODS
  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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Paediatric Immunology and Leukocyte Biology, National Institute of Immunohaematology, 13 th floor, NMS Bldg, KEM Hospital, Parel, Mumbai, 400012, India.
authors.forename: Anju
authors.initials: A
authors.lastname: Mishra
authors.forename: Maya
authors.initials: M
authors.lastname: Gupta
authors.forename: Aparna
authors.initials: A
authors.lastname: Dalvi
authors.forename: Kanjaksha
authors.initials: K
authors.lastname: Ghosh
authors.forename: Manisha
authors.initials: M
authors.lastname: Madkaikar
mesh_terms: D005260:Female; D005312:Fetal Blood / Q000166:cytology; D005434:Flow Cytometry; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis*; D016130:Immunophenotyping; D016131:Lymphocyte Subsets / Q000378:metabolism; D011247:Pregnancy; D011296:Prenatal Diagnosis