PGD at CARE Fertility - Success Stories

Pre-Implantation Genetic Diagnosis and HLA Tissue Typing used to save a child with Fanconi Anaemia

A couple whose daughter suffers from the rare, inherited condition, Fanconi Anaemia, have used IVF and Pre-implantation Genetic Diagnosis (PGD) to find a tissue matched sibling to save the girl's life. No family members were a match a match and a world wide search was unable to find a bone marrow donor.

CARE Fertility's Preimplantation Tissue Typing (PTT) programme is a first in the UK.

Pre-Implantation Genetic Diagnosis and HLA Tissue Typing used to save a child with Fanconi Anaemia at CARE Fertility Nottingham

What is PGD with HLA Tissue Typing?

Pre-Implantation Genetic Diagnosis (PGD) is a technology which allows genetic testing of an embryo prior to implantation and before pregnancy occurs. It is used in conjunction with IVF and allows only those embryos diagnosed as being free of a specific genetic disorder to be transferred for pregnancy.

The tissue type of an individual depends on certain molecules called Human Leukocyte Antigens (HLA) which are displayed on the cell surface. There are three major HLAs, known as HLA-A, HLA-B, and HLA-DR and many known variants of each. This is why finding an exact match between two unrelated individuals is very difficult, it is much easier to obtain matching tissues from a family member than it is from a non-relative - the chances of siblings sharing the same tissue type are one in four. Tissue-typing is performed by looking for the HLA genes to match an embryo to a recipient.

Following IVF, HLA matched disease free embryos are used in treatment with the hope of establishing a pregnancy.

The attached Patient Information Document contains a flow chart that takes you through the various stages of the testing.

Click here to view the Patient Information Document about Pre-Implantation Diagnosis

Click here to view the Patient Information Document about HLA typing and Pre-Implantation Diagnosis

Who is Pre-implantation Tissue Typing used for?

Pre-Implantation Tissue Typing is used where bone marrow transplant is clinically advised but no matched donors can be found. It has been performed by CARE Fertility in conjunction with Genesis Genetics EU for conditions including Fanconi Anaemia, Diamond Blackfan Anaemia and a number of primary immune deficiencies.

Colleen Lynch - PGD Lab Manager, Embryologist and Molecular Geneticist - CARE Fertility Nottingham
Colleen Lynch
PGD Lab Manager

What is Fanconi Anaemia

Fanconi Anaemia is a rare condition which predisposes to cancer. Most patients develop bone marrow failure, there is an increased incidence of tumours, leukaemias, and kidney problems. Bone marrow / haematopoetic stem cell transplant is the accepted treatment for the resulting bone marrow failure. Transfusion of stem cells from a matched sibling donor can dramatically reduce the incidence of graft versus host disease and adolescent cancers.

What we did in this case

A single cycle of IVF and PGD was performed CARE Fertility in conjunction with Genesis Genetics EU for a family whose younger child has Fanconi Anaemia. As a result of severe bone marrow failure she was in urgent need of a tissue matched donor. Statistically , there is a 3 in 16 chance of finding and unaffected HLA matched embryo. Happily the couple produced which were transferred and resulted in pregnancy. A healthy, male baby was delivered and the cord blood successfully collected. Tests confirmed that the baby was not affected by Fanconi Anaemia and was a tissue match for his sister. A decision was also taken to obtain bone marrow when the baby was a year old.

PGD biopsy / HLA testing - CARE Nottingham

The 9 year old patient is now 6 months post transplant and she hopes to return to school soon. And the thing she is most excited about? - she has just had her first sleepover!

Dr Simon Fishel, Managing Director of CARE Fertility said "We are delighted at the outcome for this family. This is absolutely positive life-giving medicine. Not only is a much loved child born free of the familial disease but with the opportunity to cure severe bone marrow failure for his sister. This is not about IVF for infertile couples, but the only healthcare option open to many hoping to save the life of their child. There are thousands of children and adults suffering from severe disease, many terminal, with a short life expectancy who need a tissue matched blood stem cell transfusion to survive. It is of particular significance that the treatment at CARE Fertility was NHS funded.".