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:
- 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.
- Molecular testing for cystic fibrosis carrier status.
- Molecular testing for spinal muscular atrophy carrier status.
- Hemoglobin electrophoresis (for hemoglobin variants)
- Complete blood count with indices (to detect thalassemia)
- For Ashkenazi Jews a panel of about 17 addition tests is recommended.
- 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