We would like to take this opportunity to introduce you to a new clinical service pathway. The NHS Highly Specialised Service for Rare Mitochondrial Disorders and the Newcastle Fertility Clinic at Life (Newcastle Hospitals NHS Foundation Trust), are now able to offer a comprehensive pathway of care for women of reproductive age with a personal or family history of mitochondrial disease. The usual referral pathway of the woman and her partner should be to the Reproductive Advice Clinic undertaken by Dr Gráinne Gorman (Consultant in Mitochondrial Medicine) & Catherine Feeney (Nurse Consultant in Mitochondrial Medicine) at the Royal Victoria Infirmary, Newcastle. This clinic will review and confirm the genetic diagnosis, assess fitness for pregnancy from a mitochondrial disease perspective and offer psychological support and advice regarding reproductive options for IVF- based techniques including pre-implantation genetic diagnosis (PGD) and Mitochondrial Donation. Once assessed in this clinic, and if considered appropriate, the couple will be referred to the Mitochondrial Assisted Reproductive Technologies (Mito-ART) Clinic. Women referred from other mitochondrial disease centres may be referred directly to the Mito-ART clinic at the Newcastle Fertility Centre. The Mito-ART Clinic is run by Dr Jane Stewart (Consultant in Reproductive Medicine) and Professor Robert McFarland (Professor of Paediatric Mitochondrial Medicine) at the Newcastle Fertility Centre at Life, Newcastle.  This clinic will offer more in depth information and assess suitability for IVF-based techniques (including PGD and Mitochondrial Donation) for women who harbour mitochondrial DNA mutations. ART based treatments include:

  1. Preimplantation genetic diagnosis (PGD). This procedure involves testing embryos at the 6-10 cell stage, to identify those with the lowest mutation load.  We have been performing this treatment successfully for affected families over several years.
  2. Mitochondrial donation by pronuclear transfer (PNT). This treatment is at an early stage and is currently offered only to those for whom PGD is unlikely to work. PNT involves transferring the patient’s nuclear DNA to an enucleated egg from a healthy donor.  It offers women with high mutation loads the potential to have a genetically related child with a greatly reduced risk of transmitting mtDNA disease. We have conducted extensive pre-clinical studies on the PNT procedure (Hyslop et al, 2016, Nature:534), and Newcastle Fertility Centre has recently been granted the first UK treatment licence*.

*It is expected that funded couples will consent to data-collection through pregnancy and follow-up of children through a research study (‘Mitochondrial Donation: outcome at 18 months’).  In line with this research protocol, and in collaboration with local services, members of our team will follow these women throughout their pregnancy, birth and post-natal care as well as follow-up of a child successfully conceived through mitochondrial donation up to the age of 18 months. However, direct access to expert mitochondrial advice and assessment will be available throughout the child’s early life until at least the age of 5 years. We now welcome referrals from across the UK.  If you wish to discuss any aspects further, please do not hesitate to contact any of the clinical leads directly for further advice. Should you wish to make a referral please address your correspondence to the following address:

NHS Highly Specialised Service for Rare Mitochondrial Disorders
The Royal Victoria Infirmary
Queen Victoria Road