The purpose of the genetics consult

I have been working with Zouves Fertility Center since January 2003, providing genetic counseling for all couples and ovum donors in their program.  People undergoing IVF generally do not receive genetic counseling prior to their cycle.  As a result, the opportunity for applicable genetic testing/counseling in the preconception period is often lost.  Family history risk assessment in an infertility setting allows couples to learn about their genetic risks prior to pregnancy.  For some couples it provides information about the causes of their infertility.  Armed with this knowledge, couples at risk of transmitting genetic conditions may choose to take full advantage of technology such as PGD.   The number of couples with a history suggestive of an increased risk for mental retardation or birth defects in their offspring is relatively low, but screening all couples is necessary to identify these individuals.  For people without an identified risk for mental retardation or birth defects, most have other diseases in the family which have a genetic component.  

 

Ovum donors are usually screened through the use of a family history questionnaire, usually focusing only on first degree relatives and grandparents.  The majority of questionnaires that I have seen omit nieces, nephews, aunts, uncles and cousins.  Most gamete donor programs do not utilize genetic counseling services for family history risk assessment and do not obtain a three generation pedigree.  If a donor has a positive genetic test result, many donor agencies do not refer for genetic counseling and do not adequately address the implications for the donor and her family.

 

I reviewed the charts of patients and ovum donors from January, 2003 - May 2004.  Of 455 couples, 296 (65%) had an identified increased risk.  Of 111 donors, 26 (23%) had an increased risk.