#geneticwellness

What is PGD? Preimplantation genetic diagnosis (PGD) is a procedure performed prior to implantation and pregnancy. It involves testing embryos created through in vitro fertilization (IVF) for genetic defects or chromosomal abnormalities.

The PGD Process During a standard IVF procedure, eggs are retrieved from the ovaries and fertilized with sperm in a laboratory. The fertilized eggs, now called embryos, are allowed to develop for a few days until they each contain roughly 6-10 cells. At this early stage, one or two cells are biopsied from each embryo without damaging development. The biopsied cells are then analyzed for any genetic or chromosomal abnormalities.

Only healthy, genetically normal embryos are selected to be transferred back into the woman's uterus in the hopes of establishing a successful pregnancy. Embryos found to have an abnormality are not transferred and are either frozen for future use, donated to research, or discarded. This allows couples to avoid passing on genetic diseases or conditions to their children.

Genetic Disorders Tested PGD can test for hundreds of genetic disorders, both single-gene conditions and chromosomal abnormalities. Some of the more common ones tested include:

- Cystic fibrosis - A life-threatening lung disease caused by mutations in the CFTR gene.

- Fragile X syndrome - The most common cause of inherited intellectual disability, caused by an expanded CGG repeat in the FMR1 gene.

- Huntington's disease - A neurodegenerative disorder caused by an expanded CAG repeat in the HTT gene.

- Sickle cell anemia - An inherited blood disorder caused by a mutation in the HBB gene.

- Thalassemias - A group of genetic blood disorders caused by mutations in genes regulating hemoglobin production.

- Spinal muscular atrophy - A motor neuron disease caused by a loss of function of the SMN1 gene.

- Trisomy 13, 18, and 21 - Chromosomal abnormalities causing associated birth defects and intellectual disabilities. Down syndrome is caused by trisomy 21.

Who Benefits from PGD? PGD provides hope to families with a history of specific genetic disorders by identifying healthy embryos free of the condition. Some other populations who may benefit include:

- Carriers of genetic mutations with a high risk of passing the disease to offspring.

- Older women at increased risk for chromosome abnormalities like Down syndrome.

- Women with reproductive issues causing recurrent pregnancy loss from abnormalities.

- Couples seeking to avoid passing on a sex-linked genetic disease like hemophilia.

The Accuracy and Limitations of PGD While Preimplantation Genetic Diagnosis has helped many families achieve healthy pregnancies, it does have limitations. The main one is that the testing is done at the early embryo stage when only a few cells are available. Mistakes can occur, and results may sometimes come back as inconclusive rather than a definitive yes or no. The accuracy rate of PGD depends on the genetic disease and technique used, but is typically around 95-99%.

Ethical Considerations As with all advanced reproductive technologies, PGD does raise some ethical debates. Some view it as a way to select “designer babies” and question whether it could open the door to choosing traits outside of medical necessity. Others argue it should only be used for serious genetic diseases and not cosmetic traits or preferences. Overall, many feel the benefits to families often outweigh these theoretical concerns when PGD is used judiciously and for medical reasons.