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The Critical Role of Prenatal Genetic Study in Prevention of Primary Immunodeficiency in High-Risk Families: The Largest Report of 107 Cases Publisher Pubmed



Modarresi SZ1, 2 ; Sabetkish N1 ; Badalzadeh M1 ; Tajik S1 ; Esmaeili B1 ; Fazlollahi MR1 ; Houshmand M3 ; Gharehdaghi J4 ; Niroomanesh S5 ; Sherbaf FR5 ; Alizadeh Z1 ; Namini NK1 ; Maddah M1 ; Pourpak Z1 Show All Authors
Authors
  1. Modarresi SZ1, 2
  2. Sabetkish N1
  3. Badalzadeh M1
  4. Tajik S1
  5. Esmaeili B1
  6. Fazlollahi MR1
  7. Houshmand M3
  8. Gharehdaghi J4
  9. Niroomanesh S5
  10. Sherbaf FR5
  11. Alizadeh Z1
  12. Namini NK1
  13. Maddah M1
  14. Pourpak Z1
  15. Moin M1, 6
Show Affiliations
Authors Affiliations
  1. 1. Immunology, Asthma and Allergy Research Institute, Children’s Medical Center Hospital, Tehran University of Medical Sciences, Tehran, Iran
  2. 2. Department of Pediatrics, Shahid Sadoughi University of Medical Sciences, Tehran, Iran
  3. 3. National Institute for Genetic Engineering and Biotechnology, Tehran, Iran
  4. 4. Legal Medicine Research Center, Legal Medicine Organization, Tehran, Iran
  5. 5. Division of Perinatalogy, Department of Obstetrics and Gynecology, Yas Hospital, Tehran University of Medical Sciences, Tehran, Iran
  6. 6. Department of Immunology and Allergy, Children’s Medical Center Hospital, Tehran University of Medical Sciences, Tehran, Iran

Source: Iranian Journal of Allergy# Asthma and Immunology Published:2020


Abstract

This study aims to investigate the role of prenatal diagnosis (PND) in Iranian couples with a previous history of primary immunodeficiency disorders (PIDD) in their family. All referred couples with a family history of PIDD and a tendency for PND were included in this project. Based on gestational age, chorionic villus sampling (CVS) was performed to analyze the molecular defect of the fetus according to the previous gene defect of the affected case in the family. Postnatal confirmation was performed by immunological screening tests. In a total of 100 cases, CVS was not evaluated in 19 patients due to unwillingness (n=5), late prenatal referral (n=7), miscarriage before CVS (n=3), and female fetus with x-linked diseases in previous children (n=4). In the remaining 81 patients, heterozygous and homozygous mutations were found in 33 and 23 cases, respectively. The hemizygous mutation was obtained in 6 and no pathogenic mutations were found in 19 individuals. Postnatal evaluations revealed that a total of 65 babies were healthy, 32 fetuses were aborted (3 cases before CVS, 2 spontaneous abortions of a healthy and as affected fetus in the CVS subgroup, and 27 cases were aborted due to therapeutic causes). One fetus from the heterozygous subgroup was spontaneously aborted with severe combined immunodeficiency (SCID) and one fetus from the homozygous subgroup that was supposed to be healthy was affected by the autosomal dominant-chronic granulomatous disease (AR-CGD). The diagnostic error was 1.2%. PND is highly recommended in families with a history of PID in their previous child to prevent an affected baby being born and to reduce the government, family, and personal burden of these diseases. Copyright© October 2020, Iran J Allergy Asthma Immunol. All rights reserved.