Preimplantation Genetic Diagnosis (PGD) Treatment Program
PGD (Preimplantation Genetic Diagnosis) can only be performed with IVF. PGD offers a way to test patient’s embryos for genetic disorders before transferring them into the uterus. The procedure is most helpful for patients with a genetic disorder who wish to avoid passing this onto their child. PGD has been used to lower the risk of having an abnormal pregnancy or to explain the causes of recurrent miscarriages and implantation failures.
Some cases of PGD are done for sex selection, family balancing or to avoid x-linked genetic disorders. Dr. Rakoff, working with some of the nation’s leading molecular geneticists, and our very experienced embryologists are able to help diagnose and or treat people with many genetic disorders.
The first step in the process is to gently extract a cell from a 3 day old embryo. The genetic material in the cell undergoes DNA analysis. The techniques employed may include Fluorescent In Situ Hybridization (FISH), Polymerase Chain Reaction (PCR), Micro-array or newer technologies depending on the type of genetic abnormality involved.
Dozens of diseases can now be detected such as:
Tay-Sachs diseas
Polycystic kidney disease
Klinefelter syndrome
Huntington’s disease
Thalassemia
Balanced translocations
Sickle-cell anemia
Hemophilia A
Cystic Fibrosis
X linked diseases (muscular dystrophy)
Fragile-X Syndrome
Retinitis pigmentosa
Some of the advantages of PGD include fewer abnormal babies and pregnancy terminations. We also hope to avoid the transmission of familial diseases and hopefully achieve greater embryo survival rates.
Some of the newer PGD technologies may allow us to determine if the source of the abnormality is from the sperm or the egg. This can potentially be very helpful in cases of fertility failure or recurrent miscarriage (recurrent pregnancy loss).
There is some risk is involved with PGD. Accidental damage may occur in rare cases, resulting in failure of the embryo to grow. As the technologies are very complex, in some cases a misdiagnosis or no diagnosis may be made. These limitations must be considered when deciding to proceed with PGD.
