Related Experiment Video
Updated: Apr 19, 2026
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
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.
Insights
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.
Abstract:
Preimplantation genetic diagnosis (PGD) for human leukocyte antigen (HLA) typing is an established procedure for conceiving a child who may donate cord blood or haematopoietic stem cells for transplantation to save an ill sibling. Haematopoietic stem cell transplantation (HSCT) from related matched donors improves overall survival compared with unrelated or non-matched donors. Since HSCT from related matched-donors is unavailable for 70% of patients, IVF for PGD-HLA is a relevant clinical option. Recent success of HSCT after PGD-HLA, and excellent health and family support of the children born, suggests that debate over this kind of 'designer baby' and 'gift of life' should subside. Discussions about IVF for PGD-HLA should be held with families when a related matched-donor is unavailable, when HSCT can wait at least 9-12 months, within weeks of diagnosis irrespective of prognosis, and when the mother is of reproductive age. Related half-matched egg donors may also be considered. National and international collaborations should be established, and couples choosing this modality should be referred to experienced IVF and PGD centres. Clinical guidelines will improve physician and patient awareness of IVF for PGD-HLA and its role in advancing the clinical care of children in need of HSCT.
