Preimplantation genetic testing for inherited immunodeficiency

Abstract

Preimplantation genetic testing (PGT) has become a practical tool for at risk couples to avoid affected pregnancies and have a healthy progeny free from genetic and chromosomal disorders. PGT is also an option for stem cell transplantation treatment through combining PGT with preimplantation HLA typing for couples with children affected by congenital disorders, for whom no other alternative therapies are available, such as for congenital immunodeficiency. We present here our experience of 135 PGT cycles performed for 74 couples at risk for producing offspring with 18 different congenital immunodeficiencies, resulting in birth of 54 healthy children free from inherited immunodeficiency, which is one of the world’s largest PGT series for immunodeficiency.

Case Report: Preimplantation Genetic Testing for X-Linked Severe Combined Immune Deficiency Caused by IL2RG Gene Variant

“…However, these two technologies still have limitations in clinical applications ( Fischer and Hacein-Bey-Abina, 2020 ). For some inherited immunodeficiency like SCID, the PGT has become a practical technique for these at-risk couples to avoid affected pregnancies and have a healthy progeny free from genetic and chromosomal disorders ( Rechitsky et al, 2018 ). At present, there is no mature gene therapy program for clinical application for children born with SCID, HSCT from a matched sibling donor is the most effective way.…”

“…At present, there is no mature gene therapy program for clinical application for children born with SCID, HSCT from a matched sibling donor is the most effective way. HLA matched stem cell transplantation improves significantly the outcome of transplantation treatment ( Rechitsky et al, 2018 ). If children born with SCID are treated and protected early by pediatric ICU, they may be able to wait until PGT-M with HLA typing technique helps their family have a sibling who can provide a suitable transplantation donor.…”