Pre-implantation genetic diagnosis (PGD) determines the genetic health of an IVF embryo before it is transferred to the womb. It present a unique opportunity to screen for genetic disorders at the outset of a pregnancy.

PGD can enable couples with a history of genetic disease, chromosome disorders, disease susceptibility and recurrent miscarriage, to start a pregnancy knowing that their embryo is healthy. PGD can enable a couple to avoid the difficult scenario of testing for a genetic condition in an established pregnancy.

Being faced with such personal decisions brings a unique set of challenges. Having a specialist who understands genetic disorders, IVF and PGD and who can offer sound advice is vital for any couple embarking on this journey. Dr Ken Maclean is a paediatrician and medical genetic specialist with many years of experience helping Australian couples start healthy families.

Primary Care Genetics is linked to one of Australia’s most successful in vitro fertilisation (IVF) and pre-implantation genetic diagnosis (PGD) programs. The highly experienced team of fertility specialists, embryologists, laboratory scientists, specialist nurses and support staff at Genea have helped thousands of couples conceive a healthy child.

Primary Care Genetics can advise on and arrange genetic testing that may be needed to assess the option of PGD treatment. 

PGD can be used for:

• Detecting single gene disorders such as cystic fibrosis, Huntington disease, thalassaemia, Fragile X syndrome. 
• PGD has been used for a over 150 different genetic and metabolic disorders.
• Screening embryos for established familial cancer predispositions such as familial breast and ovarian cancer (BRCA1, BRCA2), familial adenomatous polyposis coli and hereditary non-polyposis colorectal cancer (HNPCC) syndromes.
• Chromosome testing (karyotyping) in an infertile couple for recurrent miscarriage or repeated IVF failure or for a couple with a previous chromosome aneuploidy syndrome such as Down syndrome
• Appropriate testing for disease susceptibility.
• PGD can be used for sex selection where there may be a significant risk of disease that is linked to the sex of the child, such as developmental disability and autism. 
• Sibling stem cell therapy and umbilical cord blood transplant for a sibling with leukaemia, a bone marrow failure syndrome, immunodeficiency or red blood cell disorder.