At XPert Fertility Care, our goal is to provide the most advanced reproductive healthcare that allows us to remain at the forefront of Reproductive Medicine. We are proud to offer the latest and most unique reproductive technologies, including pre-implantation genetic diagnosis (PGD) and chromosomal analysis (FISH). Pre-implantation Genetic Diagnosis is offered to couples at risk of having a genetically abnormal child and as an alternative to prenatal diagnosis. Although, PGD has been available since 1990, there has been a slow but steady increase in the number of programs (now exceeding 40 worldwide) offering this highly advanced and valuable reproductive medical technology.

This procedure is used in conjunction with In-Vitro Fertilization by performing an embryo biopsy usually of a single blastomere cell at the 6 to 8 cell stage of development. PGD combines the expertise of assisted reproduction and molecular genetics. Today, the number of genetic diseases detectable by PGD has increased significantly to include most common autosomal dominant and recessive diseases (e.g. cystic fibrosis, thalassemias, sickle cell anemia, and Duchenne's muscular dystrophy) as well as the diagnosis of chromosomal translocations for patients with recurrent pregnancy loss.

Additionally, chromosomal analysis during the preimplantation stage by using Fluorescent In-situ Hybridization (FISH) has the potential to reduce the number of trisomic and monosomic pregnancies (e.g. Down's syndrome), increase the pregnancy rates in women over age 40, and reduce embryo loss during pregnancy.

In a recent review of PGD around the world, the most common reasons for referral for the procedure was a suspected gene for cystic fibrosis, Duchenne's or Becker's muscular dystrophy, myotonic dystrophy, hemophilia, or Huntington's disease. In these cases, most patients had affected children and decided to pursue PGD prior to attempting another pregnancy. Out of 70 cases, only a single (1.4%) misreported diagnosis occurred that was diagnosed by amniocentesis.

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