Genetic Counseling in Primary Immunodeficiency Disorders: An Emerging Experience in Egypt
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ORIGINAL RESEARCH ARTICLE
Genetic Counseling in Primary Immunodeficiency Disorders: An Emerging Experience in Egypt Rabab E. El Hawary1 • Safa S. Meshaal1 • Dalia S. Abd Elaziz2 • Marwa A. Elsharkawy1 • Radwa S. Alkady2 • Sohilla Lotfy2 • Ahmad El-Sheikhah3 Amr Hassan3 • Nermeen M. Galal2 • Jeannette A. Boutros2 • Aisha M. Elmarsafy2
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Ó Springer International Publishing AG 2017
Abstract Background Primary immunodeficiency disorders (PIDs) are a heterogeneous group of diseases of the immune system leading to life-threatening infections, and, unless urgently treated with immune reconstitution, patients do not usually survive. With the continuing progress in molecular diagnosis, many mutations have been described in more than 300 genes. Genetic counseling has recently been considered an essential part of the management of PIDs. This study presents the experience of genetic counseling services in the largest PID center in Egypt, and reports on our management plan and the impact of prenatal diagnosis (PND) on families. Methods Based on the biochemical and molecular diagnosis of index cases, PND was offered for 10 families in 12 subsequent pregnancies. Five different genes were sequenced by Sanger sequencing in fetal samples. Results Seven fetuses were either normal or were carriers, while five fetuses were affected and human leukocyte antigen typing was performed, seeking a suitably related donor for stem cell transplantation.
Rabab E. El Hawary and Safa S. Meshaal contributed equally to this work. & Safa S. Meshaal [email protected]; [email protected] 1
Clinical and Chemical Pathology Department, Faculty of Medicine, Cairo University, Cairo 11562, Egypt
2
Department of Pediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt
3
Department of Obstetrics and Gynecology, Faculty of Medicine, Cairo University, Cairo, Egypt
Conclusion In spite of the genetic heterogeneity behind PIDs, genetic counseling should play a critical role in the management and future decisions of affected families.
Key Points Genetic counseling sessions were conducted with all families with affected children who were molecularly diagnosed, and prenatal diagnosis (PND) was successful in 12 pregnancies. Human leukocyte antigen typing for all cases was performed to rule out maternal contamination and for future arrangements for stem cell transplantation. Genetic counseling in primary immunodeficiency disorders (PIDs), together with PND, is of vast importance in management plans, especially in countries with a high prevalence of PIDs but limited resources.
1 Introduction Primary immunodeficiency disorders (PIDs) are a complex group of disorders that constitute several hundred disease entities, with a heterogeneous genetic background involving more than 300 different genes. This complexity is becoming more evident, with more genes being discovered and more conditions added. PID patients experience severe and recurrent infections and do not usually survive unless treated with immune reconstituting treatments [1, 2].
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