The 78th ASRM Scientific Congress & Expo will be held in October 2022, the latest entry in an annual series of lectures focusing on the top advances in reproductive medicine and infertility care. This year’s theme will be “Genes, Gametes, and Genetics” with a special focus on cutting-edge genetics research and the novel advances in clinical care that bring these advances to patients seeking to grow their families. At the heart of most of these advances are attempts to help patients achieve their dream of having a healthy baby. Some of these technologies, however, aren’t just the stuff of dreams for a better tomorrow – they are the technologies that patients can already pursue today.
One such approach to helping a couple have a healthy baby is the process known as IVF with PGT (in vitro fertilization with preimplantation genetic testing). In this process, a couple uses the familiar IVF process to obtain eggs and sperm. Before a pregnancy even begins, the embryos that result from the IVF process are genetically tested to determine if they have problematic genes which would cause severe or even lethal childhood diseases. While some couples know they are at risk of passing along these inherited diseases (if perhaps they already have an affected child or had another affected family member), other couples only know they are at risk if they have pre-pregnancy genetic carrier screening. Such screening can be limited to common conditions (such as cystic fibrosis, sickle cell disease, and spinal muscular atrophy), limited to conditions that are common in the couple’s ethnicity (such as Tay-Sachs disease and Canavan disease), or broad and applicable for all ethnicities (“expanded carrier screening”).
Racial or Ethnic Associations to Specific Diseases:
- Sickle Cell Disease: African-Americans should be screened as 10% may be a carrier.
- Cystic fibrosis (CF): It is estimated that 3% to 10% of Caucasians may be carrier for the condition. CF is the most common, serious, inherited disease in Caucasians, and is more common in those of northern or central European background and Ashkenazi Jewish background.
- Thalassemia: People with Mediterranean or southern Asian ancestry have a higher risk of the disease. About 3% of the world’s population carries a gene for thalassemia.
- Tay Sachs: This disease has a high incidence in Eastern European Jews and French Canadian
Familial Associations with Specific Diseases
A family history of any of the following disorders should prompt genetic counseling, and when relevant, screening or testing for associated gene abnormalities or carrier status:
- Down syndrome
- Muscular Dystrophy
- Tay Sachs
- Chromosomal syndromes
- Sickle Cell
- Unexplained still-births or neonatal deaths
- Recurrent miscarriage
- Huntington’s disease
After recognition of risk, many couples use IVF with PGT to have a healthy child and to prevent common genetic conditions. Before this technology became available, at-risk couples would only have the options of a) accepting the risk and the outcome of having an unhealthy child or b) seeking an abortion for an affected pregnancy. Many couples have found IVF with PGT to be preferable to these two imperfect options. (And because option B is restricted in Texas, and perhaps soon in many other states, option A may be the only real alternative to IVF with PGT.)
More than 500 different genetic conditions have been avoided by IVF with PGT across the world, and the field continues to advance. If you are at risk of passing along a genetic condition, or if you have never been scree