Preimplantation Genetic Diagnosis (PGD)
Preimplantation genetic diagnosis (PGD) is a very early method of prenatal diagnosis that was designed for couples who are at risk of transmitting a specific inherited disease to their children. It is only suitable for couples with a known genetic or chromosomal abnormality. Since 1996 the CRGH has been working with UCL Centre for PGD to offer a full range of PGD services. UCL Centre for PGD was one of the first centres in the world to perform PGD. UCL Centre for PGD performed the first ever cases of PGD using the FISH technique. Since that time UCL Centre for PGD has become one of the most internationally recognised PGD centres and the longest continually running PGD centre in the UK. UCL Centre for PGD is one of the few academic PGD centres with a dedicated team of 14 staff. The team is headed by Professor Joy Delhanty and Dr Joyce Harper, both pioneers in PGD and Dr Sioban SenGupta. UCL Centre for PGD perform all of their diagnoses in house and were one of the first independent PGD centres to obtain accreditation.
The CRGH and UCL Centre for PGD have set many UK firsts in the field of PGD. The first baby conceived to be free of the BRCA-1 breast cancer gene, the first baby born to be free of retinoblastoma (a hereditary form of eye cancer) and the first centre to test for Familial Adenomatous Polyposis (FAP) with can lead to early onset colon cancer among others.
PGD is undertaken at the end of an IVF cycle. Details of how PGD is performed can be found on ucl.ac.uk/PGD. In summary, on either day 3 or day 5, some cells are biopsied from the embryos and these cells are used for the genetic test. Normal embryos are transferred to the womb. The diagnosis can be complicated and since our frozen embryo rates at the CRGH are so high, we may freeze all the biopsied embryos whilst we perform the diagnosis and transfer the normal embryos back in a frozen/thawed cycle.
We are one of the few clinics to have a Clinical Nurse Specialist in Genetics who is an expert on PGD - Karen Fordham. Karen deals with all patient enquiries, consultations, cycle organisation, etc. All patients are seen by Karen for an initial consultation where she explains the PGD procedure and the advantages and disadvantages. If a couple decide to go onto the PGD programme, Karen will apply for NHS funding and the diagnosis will be worked up specifically for each couple by our dedicated team. The patients are then seen for a full consultation with Karen and one of our PGD team (Professor Delhanty or Dr Sioban SenGupta) and the exact method of diagnosis is explained with reference to the patient’s DNA or chromosomes. At this time the patients are also seen by one of the doctors from the CRGH who will explain what is involved in the IVF treatment. Since the diagnosis is done in house we offer a reliable and dedicated service.
All preliminary consultations are with Karen. Contact Us


