Comprehensive telephone-based genetic counseling for all your genetic concerns as you consider treatment in reproductive medicine.
Some common reasons to pursue genetic counseling include:
- Donor gamete (egg, sperm, embryo) evaluation and risk counseling
- Infertility or recurrent miscarriages
- Family history concerns
- Consideration of PGD
- Carrier screening options/results
- Concerns about risk for birth defects with use of fertility treatment
- General preconception counseling
We provide services to augment fertility treatment and genetic testing. In collaboration with your physician, we explain genetic risks and genetic testing options and help you make informed decisions about using such tests. In addition to the clarity it provides to you, this service is critical in the delivery of genetic testing options for your treatment team, enabling informed consent, appropriate coordination and interpretation of results for your use.
After your consultation, you will receive a summary letter documenting the counseling session and your family tree, if appropriate. If desired, I can also help coordinate recommended genetic testing and results counseling.
Further description of specific genetic counseling indications/services:
Donor genetic evaluation: This service includes an assessment of at least three generations of the donor's family health history by direct interview and review of relevant medical records. Review of genetic testing records and/or recommendations for appropriate genetic testing are included as part of this service.
Donor match consultation (for intended parents): This is a consultation for intended parents to explain any genetic risks identified with the donor consultation (which must be completed prior to this appointment), as well as review of other risks and testing options in pregnancy. Review of the family history of the other reproductive partner (i.e. intended father, intended mother) is assessed at this consult, if available.
Infertility or recurrent miscarriages
One indication for genetic counseling is when there is the possibility of a genetic factor involved in the diagnosis of infertility or recurrent miscarriages. The reproductive medicine physician will often consider genetic testing to rule out a chromosomal cause for specific infertility diagnoses or history of recurrent miscarriages. Occasionally, an uncommon genetic condition may underly a diagnosis of infertility, and a genetic consultation would be in order to assess the risks and testing strategy. In these cases, we will want to review the family history in detail and establish a plan for follow-up testing and results counseling, as well as options for moving forward should a genetic diagnosis be made.
You may have a family history of a condition that has some genetic basis, or in which you are not sure of the heritability. In such cases, a family history assessment, calculation of genetic risks and explanation of your options for testing would be conducted.
Consideration of PGD or PGS
Preimplantation genetic diagnosis (PGD) is testing performed on embryos during an IVF cycle, to determine which embryos are expected to be healthy and which are expected to be affected with a specific genetic condition. The testing can be tailored to a specific family's risk (when there is a single gene condition for which your future children are at risk), or can look at more "universal" risks for chromosome abnormalities. Deciding whether PGD is right for you can be complicated. This session will provide you with the information you need to make the best decision, and help you understand how the testing could impact your odds for pregnancy with IVF. You may also consider scheduling a consultation after your results are received, if you have questions about the test results.
Intended for the patient/couple interested in understanding options for carrier screening, as well as routine assessment of family history and relevant genetic risks. This service includes an assessment of carrier screening recommendations based on family history and couple ancestry/ethnicity. Recommendations for appropriate testing will be arranged as part of this service, and results counseling is included. Some patients schedule this consult after a routine screen shows a positive result, for clarification on risk status and additional testing options for the partner.
Concerns about risk for birth defects with use of fertility treatment
You may have heard that there is an increased risk for birth defects with the use of fertility treatment, and have questions about the level of risk in your future pregnancy. In this session, we will review your family history, your infertility history, and treatment plan to assess the level of risk, and discuss what is known about risks to children associated with fertility treatment.
You may not have a specific question, but wish to have a routine evaluation to determine whether there are risks you have not considered prior to a pregnancy, and to explore the testing options for genetic conditions that are available during pregnancy today. Genetics is advancing at an incredible rate, and taking some time before a pregnancy to contemplate whether testing options would be helpful to you is certainly a great (and proactive) idea.