Genetic Counseling in Primary Immunodeficiency Disorders: An Emerging Experience in Egypt.

Autor: El Hawary RE; Clinical and Chemical Pathology Department, Faculty of Medicine, Cairo University, Cairo, 11562, Egypt., Meshaal SS; Clinical and Chemical Pathology Department, Faculty of Medicine, Cairo University, Cairo, 11562, Egypt. safa.meshaal@kasralainy.edu.eg., Abd Elaziz DS; Department of Pediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt., Elsharkawy MA; Clinical and Chemical Pathology Department, Faculty of Medicine, Cairo University, Cairo, 11562, Egypt., Alkady RS; Department of Pediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt., Lotfy S; Department of Pediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt., El-Sheikhah A; Department of Obstetrics and Gynecology, Faculty of Medicine, Cairo University, Cairo, Egypt., Hassan A; Department of Obstetrics and Gynecology, Faculty of Medicine, Cairo University, Cairo, Egypt., Galal NM; Department of Pediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt., Boutros JA; Department of Pediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt., Elmarsafy AM; Department of Pediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt.
Jazyk: angličtina
Zdroj: Molecular diagnosis & therapy [Mol Diagn Ther] 2017 Dec; Vol. 21 (6), pp. 677-684.
DOI: 10.1007/s40291-017-0297-5
Abstrakt: 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.
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.
Databáze: MEDLINE
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