Reprogene offers the latest technologies in embryo biopsy and Preimplantation Genetic Screening and Diagnosis for couples who are at risk of producing embryos with specific genetic abnormalities. Irregularities in early development of the sperm, egg or embryo can lead to an imbalance of chromosome number in the developing embryo (i.e. a missing or extra chromosome). This chromosome imbalance can lead to implantation failure, miscarriage, and birth defects. Preimplantation Genetic Diagnosis (PGD) is a technique that allows the early embryo to be screened for a specific disorder so that only embryos free of the disorder are transferred to the uterus to establish a pregnancy. This avoids the use of termination of pregnancy and can help to reduce the chances of miscarriage.
PGD testing may be appropriate for:
- Couples with advanced maternal age (>35)
- Couples who have experienced repeated miscarriages
- Couples who have experienced repeated IVF failures
- Couples who have previously had a pregnancy with a chromosomal abnormality
- Couples at risk of having children with a particular X-lined disorder
- Couples who want to balance the sex of their family (“family balancing”)
- Couples where one partner carries a balanced chromosomal translocation
Current PGD services at Reprogene include tests for:
Chromosomal aneuploidy is a term used to describe irregularity of chromosome number (e.g. the loss of one chromosome or the presence of an extra chromosome). Normal embryos should inherit one copy of each chromosome from each parent and therefore have two copies of each chromosome. Chromosomal irregularities are due to errors in cell division. Embryos with an aneuploidy are unlikely to lead to a successful ongoing pregnancy and couples at risk of producing aneuploid embryos may experience infertility. In PGS, all chromosomes of the embryo are tested allowing for better embryo selection to increase the likelihood of implantation, reduce the chance of miscarriage, and improve the odds of giving birth to a healthy baby.
Chromosomal translocations involve rearrangement of the chromosomal material. Carriers of translocation may experience difficulties with reproduction due to the generation of chromosomally unbalanced embryos. As a result, these couples may have experienced difficulty conceiving or multiple miscarriages. This type of testing involves analysis of the chromosomes involved in the translocation and can distinguish between normal/balanced embryos (which have the potential to produce a healthy baby) and unbalanced embryos (which would not implant, would miscarry, or would give rise to an affected baby).
Single Gene Disorder
Our DNA is divided into about 25,000 genes, all of which determine our growth and development. Genes come in pairs with one copy inherited from the mother and the other from the father. When the gene is changed, or mutated, in the DNA sequence, a genetic disease is the result. These mutations can be passed down from each generation to the next or be a new mutation all together (de novo). Some examples of diseases caused by single gene mutations are spinal