Have You Thought About Preconceptional Genetic Counseling?
by Carrie Koval, MS, September 1998

Many providers think of referring their patients for genetic counseling during pregnancy. However, there are many indications for which it would be helpful and appropriate for the patient and the provider if the referral for genetic counseling is made prior to conception.

You many want to consider referring your patients for genetic counseling before pregnancy if:

1. They are at an increased risk for having a child with a genetic disease based on their ethnic background.
   
   For example, the incidence of carriers for cystic fibrosis is increased in people of Northern European descent. Similarly, people of Ashkenazi Jewish descent are at an increased risk to be carriers of genes that cause such conditions as Tay- Sachs disease or Gaucher disease. There are many more conditions in which carrier frequency is increased among certain ethnicities. If a couple is offered carrier testing before a pregnancy, they can be better informed about prenatal diagnosis or pregnancy options in the event that they are both carriers of a specific gene.

2. There is a specific genetic condition in the family, or a non-specific condition in the family.
   
   If you have a patient who is known to have sickle cell trait, preconceptional counseling could allow the partner to be tested to rule out a hemoglobinopathy, thereby providing accurate information about risks and testing options in a future pregnancy. A family history of an X-linked condition such as muscular dystrophy may put a female at risk for having an affected male child even though she is not affected in any way. In this case, carrier testing may be available to clarify her risks. Often, however, there is a family history of a non-specific condition in the family such as mental retardation. Counseling prior to pregnancy may allow more time to gather medical information and possibly make a definitive diagnosis. In the case of mental retardation, it may be appropriate to offer Fragile X carrier testing or chromosome analysis.

3. The couple has had multiple (more than two) miscarriages.

   Balanced chromosomal rearrangements are more frequent among couples who have lost more than 2 pregnancies. When a couple has had recurrent pregnancy losses, it is appropriate to refer them for genetic counseling to discuss the possibility of chromosome analysis to rule out translocations in them. If one person in the couple is found to carry a translocation, the couple can be counseled about the risks of miscarriage or abnormal pregnancy outcome in the future. They may also wish to discuss prenatal testing (i.e. CVS or amniocentesis) in future pregnancies. Couples may also wish to consider other options such as donor egg or donor sperm programs, etc. Balanced translocations may also have implications for other family members that can also be addressed during the counseling session.

4. The patient has a child affected with a genetic condition and may take risk reducing steps in future pregnancies.

   A woman who has a child with an open neural tube defect such as spina bifida may reduce recurrence risks with folic acid treatment started 3 months prior to conception for future pregnancies. Also, if there are recurrence risks for any condition because the patient has a previously affected pregnancy, genetic counseling can help explain the recurrence risks and prepare the patient for prenatal diagnosis at the earliest possible time in the next pregnancy.

   Any time genetic testing is necessary for one or both partners, performing it outside the context of a pregnancy can prove beneficial. Molecular analysis could take 2-3 weeks before results are obtained and perhaps even longer if a more complex test needs to be done. If a laboratory is offering a certain genetic test on a research basis only, results could take months. By doing carrier or diagnostic testing before conception, it can be ensured that plenty of time is left for prenatal diagnosis if desired.

   Preconceptional genetic counseling may also be less anxiety provoking than genetic counseling during a pregnancy. Without the time constraints to make decisions about testing, patients can take time to consider the option of testing and the ramifications of the results. If the tests are abnormal, patients can make informed decisions about pregnancy options and prenatal diagnosis. These examples given are by no means comprehensive. However, they are useful in illustrating the potential benefits of preconceptional counseling. The strongest incentives for preconceptional genetic counseling are awareness of risks for a potential pregnancy, informed decision making and preparation for available tests, and possible treatment to reduce risks in a future pregnancy. If you have a patient that has these or other genetic concerns, you may want to consider referring them to a genetic center even if the patient is not yet pregnant.