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Related Experiment Video

Updated: Jul 17, 2026

FISH for Pre-implantation Genetic Diagnosis

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

Preimplantation diagnosis for immunodeficiencies.

Yury Verlinsky¹, Svetlana Rechitsky, Tatyana Sharapova

¹Reproductive Genetics Institute, 2825 North Halsted Street, Chicago, IL 60657, USA.

Reproductive Biomedicine Online

|February 15, 2007

Summary

Preimplantation genetic diagnosis (PGD) enables the birth of healthy children for families with genetic disorders. These children can also become stem cell donors for affected siblings, improving treatment outcomes.

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Area of Science:

Reproductive Medicine
Immunology
Genetics

Background:

Preimplantation genetic diagnosis (PGD) is established for single gene disorders.
PGD combined with human leukocyte antigen (HLA) typing is emerging for genetic disorders requiring HLA-identical stem cell transplants.
This approach aims to ensure the birth of unaffected children who can serve as HLA-matched stem cell donors for affected siblings.

Observation:

The study presents the first cumulative experience of 18 cycles of PGD for specific immunodeficiencies.
These include Wiscott-Aldrich syndrome, X-linked hyper-IgM syndrome (HIGM), X-linked hypohidrotic ectodermal dysplasia with immune deficiency (HED-ID), ataxia telangiectasia, and Omenn syndrome.
Thirteen cycles resulted in unaffected embryo transfer, with seven healthy children born and one ongoing pregnancy.

Findings:

PGD successfully identified unaffected embryos for transfer in 13 of 18 cycles.
Seven unaffected children were born, with one healthy pregnancy ongoing.
HLA-identical stem cells from these children were used for transplantation in affected siblings.

Implications:

PGD with HLA typing offers a dual benefit: ensuring the birth of healthy children and providing potential stem cell donors for siblings with genetic disorders.
Successful stem cell transplantation from PGD-selected donors restored normal immune function in siblings with HIGM and HED-ID.
This combined PGD and HLA typing strategy represents a significant advancement in managing severe genetic immunodeficiencies.