Preimplantation genetic testing involves genetic testing of the embryo for chromosomes and specific genetic disorders. Usually, at the blastocyst stage, we genetically test the embryos by removing a few cells from the outside of the embryo.

We freeze the embryos, sending the cells to a specialized genetic laboratory for testing. Then, we can test the embryos for:

1. Chromosomes – Chromosome errors can occur randomly in any egg or sperm. However, errors are more likely to occur in eggs and increase with a woman’s age.  Even in women at age 35, approximately 50% of eggs are chromosomally abnormal. Errors can involve an entire chromosome or part of a chromosome.

2. Structural Abnormalities – Some women and woman carry chromosome abnormalities that they can pass along to their children. These are often translocations and often lead to many miscarriages.

3. Genetic Diseases: Some families may have a known genetic disease in family members. A man or a woman may have the disease or may carry an abnormal disease mutation. These include autosomal recessive diseases (both the egg and sperm must carry the mutation to cause the disease in a child), autosomal dominant diseases (if either the egg or sperm carries the mutation, a child has a 50% chance of getting the disease), or X linked (usually passed along from the eggs of a woman who carrier the abnormal mutation).

Preimplantation genetic testing can seem overwhelming, but it doesn’t have to be. Moreover, the Island Reproductive Services team makes things as easy and understandable as we can. Finally, contact our team today to get started!