genetic testing for egg and sperm donorsQ: What type of genetic testing or screening should intended parents request for sperm and egg donors.

A: Dr. Harvey J. Stern of Genetics & IVF Institute says all donors need to have a comprehensive 3-generation genetic history taken by a genetics professional to evaluate possible risk factors based on family history. Laboratory testing should include:

  1. Chromosomal analysis. Although ASRM doesn’t recommend it, we feel the potential for abnormal pregnancies if the donor carries a chromosome translocation, inversion or other rearrangement is too high to risk not doing the karyotype.
  2. Molecular testing for cystic fibrosis carrier status.
  3. Molecular testing for spinal muscular atrophy carrier status.
  4. Hemoglobin electrophoresis (for hemoglobin variants)
  5. Complete blood count with indices (to detect thalassemia)
  6. For Ashkenazi Jews a panel of about 17 addition tests is recommended.
  7. For egg donors: Molecular testing for fragile X carrier status.

In the rare cases where there is a known genetic disease in a family, a sperm or egg donor in some circumstances can be tested for the disease in question.

Dr. Harvey J. Stern is the director of Reproductive Genetics at Genetics & IVF Institute. For more information on this topic, listen to the Creating a Family radio show: Genetics 101 for Egg and Sperm Donation and visit our blog: How Much Do We Really Need to Know about Sperm & Egg Donors?

Image credit: r.nial.bradshaw