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FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
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Clinical guidelines for IVF with PGD for HLA matching
Ilan Tur-Kaspa1, Roohi Jeelani2
1Institute for Human Reproduction (IHR), 409 West Huron Street, Suite 500, Chicago, IL, United States; Department of Obstetrics and Gynecology, The University of Chicago, 5841 S. Maryland Ave-MC2050, Chicago, IL, United States.
Reproductive Biomedicine Online
|December 16, 2014
Summary
Preimplantation genetic diagnosis for human leukocyte antigen (HLA) typing enables conceiving a child to donate stem cells for a sick sibling. This IVF-based PGD-HLA approach offers a vital option when matched donors are unavailable.
Area of Science:
- Reproductive Medicine
- Immunogenetics
- Stem Cell Transplantation
Background:
- Hematopoietic stem cell transplantation (HSCT) offers improved survival rates when using matched related donors.
- A significant majority of patients (70%) lack access to matched related donors for HSCT.
- Preimplantation genetic diagnosis for human leukocyte antigen (PGD-HLA) typing presents a viable alternative for selecting a donor.
Purpose of the Study:
- To evaluate the clinical utility and ethical considerations of in vitro fertilization (IVF) with PGD-HLA for creating a matched donor.
- To discuss the appropriate timing and patient selection for IVF with PGD-HLA.
- To advocate for clinical guidelines and collaborative efforts to support this procedure.
Main Methods:
- Utilizes in vitro fertilization (IVF) combined with preimplantation genetic diagnosis (PGD) for human leukocyte antigen (HLA) typing.
- Involves genetic screening of embryos to identify a human leukocyte antigen (HLA)-matched donor for a sibling requiring hematopoietic stem cell transplantation (HSCT).
- Considers the use of related half-matched egg donors as an alternative.
Main Results:
- Successful HSCT has been achieved using stem cells from children conceived via PGD-HLA.
- Children born through this process demonstrate excellent health and receive strong family support.
- The success of PGD-HLA supports its role as a 'gift of life' rather than a 'designer baby' concern.
Conclusions:
- IVF for PGD-HLA is a clinically relevant option for families needing a matched donor for HSCT when none is available.
- Discussions regarding IVF for PGD-HLA should occur with families when a matched donor is absent, HSCT is feasible within 9-12 months, and the mother is of reproductive age.
- Establishing national/international collaborations and referring couples to experienced centers are crucial for successful implementation and improved patient care.

