fertility news

Compared to the general population patients needing ART may be at higher risk to have, carry or transmit a genetic disease. Genetics counseling for infertility patients can be an important aspect of their care. Common goals of genetic counseling include:

• Assessing genetic risk
• Patient education regarding treatment options
• Counseling and support
• Facilitating informed consent

Referrals to a genetic counselor may be based on the patient’s diagnosis for example, male factor infertility due to congenital absence of the vas deferens; when indicated for a specific disease such as hemophilia or Huntington’s disease; or for diseases common to certain ethnic backgrounds such as Tay Sachs. Assessing gamete donor acceptability is another common indication for genetic screening. Specifically, assessing the donor’s family history for genetic risk factors, recommend additional testing based on these risk factors and to screen for chromosomal abnormalities within the guidelines recommended by the American Society for Reproductive Medicine (ASRM).

General genetics counseling may be indicated if the woman is of advanced maternal age or if the man is of advanced paternal age, if there is a history of multiple pregnancy losses or multiple failed IVF cycles and finally based on the patient’s family history.

Preconception counseling is the ideal opportunity to assess genetic risk since patients are usually receptive to the information. This gives them time to process the information and make informed treatment decisions which may include using donor gametes rather than their own, adoption or remaining child free.

REFERENCE: McIntosh N. The role of genetic counseling in an ART program. Smart Art IV. Orlando, FL. August 21-23, 2003.