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Information Library Genetic Testing

Screening versus testing for disease. Sperm donors are screened and tested for a variety of genetic diseases. It is important for you to understand the difference between screening and testing.

Donor screening indicates that the donor was questioned about family history, personal health history, and other conditions that might suggest a risk factor for passing on a genetic disease. In some cases, screening occurs via a screening blood test that further identifies additional genetic disease risk. Most often, screening depends upon receiving answers to specific questions, posed to the donor, that identify risk. When a donor is tested for a genetic disease, he has been subjected to a definitive test to see if he has a specific disease or is a carrier for a specific disease.

Not all genetic diseases have definitive tests available, so screening must be used to exclude donors at risk. However, neither screening nor testing can completely eliminate the possibility of passing on a genetic disease.

Donors are not tested or screened for all genetic diseases.

Historically, we tested donors for some genetic diseases that are common in people in the general population or in individuals with their self-reported ethnic background. Pre-2019, we routinely performed the following genetic screening and testing on all sperm donors based on diseases that are common in people in the general population: karyotyping for chromosomal abnormalities, Cystic Fibrosis, and Spinal Muscular Atrophy (SMA).  Further testing and screening was done depending on a donor’s ethnicity for conditions such as Tay Sachs, Canavan Disease, and Familial Dysautonomia. Screening for blood disorders such as Thalassemia and Sickle Cell Anemia via CBC and Hemoglobin Electrophoresis has also been performed on all donors.

As genetic screening and testing has evolved, our policies have evolved too.  

Starting in 2019, we switched from doing ethnicity based screening and testing for recessive diseases, to expanded carrier screening, a genetic test that looks at an individual’s carrier status for certain recessive genetic diseases.  Studies have suggested that everyone is a carrier for approximately five recessive genetic diseases. In most families, however, there is no history of the disease.  With expanded carrier screening, we are able to screen donors to determine if they could be a carrier for over 280 recessive conditions.

If the donor you selected has tested positive for being a carrier of one of these recessive conditions, additional genetic testing could then be done to determine if you are also a carrier.  If you are also found to be a carrier for the same disease, only then is there a risk of having a child with the genetic disease. If you are not a carrier for the same disease as your sperm source is, then your risk of having a child with that recessive genetic disease is significantly reduced, but not eliminated.  If your donor has not undergone expanded carrier screening and you are interested in learning more about your reproductive risks, you could choose to have the screening yourself.  It should be noted that there is always a 3-4% risk of having a child with a physical and/or intellectual birth defect or medical issue, As expanded carrier screening only tests for certain genetic diseases, it does not eliminate this risk. However, as technology has evolved, we are now able to learn more about what these reproductive risks might be.  This provides you with much more information at an earlier time and allows you to make decisions about your reproductive planning and your prenatal and pregnancy care.

We currently do the following screening and testing on all new sperm donors:

  1. karotyping to check for chromosome abnormalities
  2. screening for blood disorders
  3. expanded carrier screening

 

NOTE: Since screening and testing has changed over time, please refer to each individual donor’s profile to see what type of screening and testing has been performed on each donor.  

If you are affected by a genetic disease, are a carrier of a genetic disease, or have a family history of a genetic disease, you can schedule genetic counseling for additional information and/ or possibly request additional donor testing. Please contact us for further information and cost.