Clinical Services

Enhanced Genetic Screening (EGS) Program

30 years ago, most of the time I would do a CVS or amniocentesis to test for a Mendelian disorder (such as cystic fibrosis, sickle cell, or Tay Sachs), it was because the couple already had an affected child. Now, we can in a high percentage of couples generally determine if they are at high risk BEFORE they have had that child.

Despite the well-known fact that certain inherited disorders are more common in some ethnic/racial groups, often the total number of affected individuals is higher in the “low risk” group than high risk groups because there are so many more people who are considered low risk. Examples of ethnic group risks include sickle cell for African patient, Tay Sachs for Ashkenazi Jewish patients, and β-thalassemia for Mediterranean patients. Thus, it makes more sense to run a large panel with hundreds of disorders tested rather than rely upon family histories of their background which are not-uncommonly shown to be wrong. The incidence of having a baby with one of these types of disorders is actually for most patients more common than Down syndrome.

The lab panels are constantly evolving both in number of disorders, the methodology used by the lab, and the statistical performance (i.e., how complete is the disorder for each disorder tested). Most of the tests we run have panels of over 400 Mendelian disorders.

Screening

Enhanced genetic screening (EGS) program includes:

• Offering first trimester chromosomal risk evaluation either by cell free fetal DNA screening or Nuchal Translucency (NT) screening + free β hCG and PAPP-A screening.
• Combined Screening Program using Nuchal Translucency (NT)
• Offering pan ethnic comprehensive screening for Mendelian disorders for hundreds of disorders including cystic fibrosis, Tay Sachs, the Ashkenazi panel, Fragile X, spinal muscular atrophy, and hundreds of other disorders that can have serious consequences to an affected individual.
• Genetic counseling- to review and explain all the above to couples so they can make whatever decisions they feel appropriate for them.