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We recommend all couples pursuing an infertility diagnosis consider preconception genetic screening. This is because genetic and chromosomal abnormalities are some of the most common causes of infertility, resulting in failed conception, implantation, or recurrent miscarriages.
And, while preconception genetic testing (different than preimplantation genetic screening) is a wise first-step in identifying potential infertility factors, it does not provide a complete set of information and potential solutions the way genetic counseling can.
Plus, your connection with a genetic counselor can be a tremendous resource and source of support as you move through fertility treatment options.
5 Signs or Reasons to Pursue Genetic Counseling
There are certain circumstances that lead us to refer patients or prospective patients to pursue genetic counseling. Here are five of the most common:
1. You suspect there is a genetic condition that runs in your family (or his/hers)
When you meet with a genetic counselor, s/he will give you a detailed family history/questionnaire to review with members of the family. You would be amazed what might turn up in the simple act of speaking to family members and asking pertinent questions that jog long lost memories or stories of family members you never met or that died before you were born.
That great grandmother who had one child who lived, but several who were miscarried or died right after they were born, the aunt you thought never wanted children (but who you find out tried desperately for years), the distant cousin who has had three children born with disabilities, etc., all help to paint a picture of potential genetic or chromosomal issues that could be passed on to you or your partner, and that may be a factor in why you’re struggling to conceive or carry a baby full-term.
2. You’ve had multiple miscarriages
Miscarriages are almost always a sign that “something went wrong.” Identifying that “something” is essential for creating a more personalized fertility treatment plan – and one that is more likely to be successful. Multiple miscarriages are an indication that your failed pregnancies are not random happenstances.
Once we’ve ruled out things like fibroid tumors or uterine deformities that may prevent the fertilized egg from implanting or developing into a full-term baby, we begin to suspect genetic issues. This is why we request that patients save as much as they can of the miscarriage tissue. As painful and traumatic as it is, we can test it to determine if there are abnormalities, and your fertility counsellor can review those with you as you all determine what comes next for you.
3. A close relative has a genetically inherited condition
If a close family relative has a genetically inherited condition or has given birth to a baby with a genetic disease or defect, it’s a good idea to seek consultation with a genetic counselor. S/he who can review your family history and perform tests that provide more information about the chances you have of giving birth to a baby with the same or a related condition.
4. Prenatal testing or amniocentesis yielded abnormal results
First, it is important to know that these tests are not always accurate. If, however, you’ve had multiple confirmations, it is a wise idea to visit a genetic counselor who can tell you all about the potential genetic abnormality, the way it affects the child and the family, etc. In some cases, this may result in your decision to terminate the pregnancy and try again.
The counselor will go over all of your options, and review – along with your fertility specialist – the most likely treatment options to support a full-term pregnancy and the birth of a healthy baby. For some, this may require things such as using donor eggs, sperm, or embryos.
5. You’ve given birth to a child with a genetic disorder
Some genetic disorders are inherited, and those are the ones we check for when we perform preconception genetic screening. These are things like cystic fibrosis, sickle cell disease, and even certain heart conditions or predispositions to heart disease. Others are the result of poor quality eggs or sperm, that result in a fertilized egg that carries chromosomal or genetic abnormalities. Examples of this include down syndrome or the trisomy syndromes.
If you’ve given birth to any child with a genetic disorder in the past, your genetic counselor will help you determine the chances of that happening again with future pregnancies. The information you learn may lead you to go a different route, using donor egg or sperm, a donor embryo, or opting out of having a baby in lieu of adoption.
The Reproductive Resource Center works closely with couples to determine whether genetic counseling is the best “next step” on their fertility journey. We believe that using genetic screening protocols before conceiving, as well as using PGS before IVF, can significantly increase your chances of giving birth to a healthy baby. Contact us to schedule your consultation.