Testing – Your
First Steps

The Genetics Of ART – Initial Genetic Testing

The field of genetics is changing and expanding so rapidly that it’s understandable coming in as a new fertility patient you would have questions as to what role this dynamic field plays in your treatment here at IRMS.

Think of genetic testing as a tool to educate us on you and your partner. A tool that helps your IRMS physician recommend the very best treatment type to ensure a healthy baby at the end of care.

Frequently asked questions about genetic testing:
  • Why is it recommended that both partners undergo genetic testing at the very first visit?
  • What does that testing reveal?
  • Why would we then consider testing of our embryo’s through PGT if we have already done genetic testing before we embarked on IVF?

Before you conceive, or prior to the initiation of any ART (Assisted Reproductive Technology) treatment we strongly recommend genetic testing for both partners. This is usually done with a simple blood test at your new patient appointment or can be done with a saliva sample. Initial genetic testing, often referred to as Expanded Carrier Screening (ECS), is definitely a case of “knowledge is power”. Carrier screening results provide vital information for individuals and couples to make informed decisions about potential DNA mutations you may carry within your genetic code. With this knowledge you and your IRMS physician can make informed decisions about your continued care.

We know that most children who are born with severe genetic diseases like Cystic Fibrosis (a deadly lung disease) or Spinal Muscular Atrophy (lethal at a very young age) have two healthy parents with no symptoms of disease and no family history of disease. That is because these types of diseases are caused by silent or recessive gene mutations. If you carry one mutation (mutations are normal – almost everyone carries some) you are not affected by the mutation. However, if you carry two mutations, then you may have the disease. By doing ECS on all patients we can find the 1% of couples that happen to carry matching mutations. If you and your partner both carry the Cystic Fibrosis gene you are at high risk for having a child with Cystic Fibrosis. Once you know and understand your risks you have choices:

  • Prevent transmission of genetic disease via genetic testing of your embryos and transferring an embryo without disease
  • Intervening once you are pregnant – consider testing of the pregnancy and possible termination
  • Preparing for the birth of a child with special needs due to the disease – lining up appropriate obstetric and pediatric care prior to birth.

The primary reason we initiate this genetic testing at your new patient consult is the turnaround time for results is approximately 2-4 weeks depending on the testing platform used in your case. We work with several companies for initial genetic testing and are always reviewing the technology to try to offer the best and most current testing for our patients. Often your insurance plan plays a role in which company we use. During the time we’re waiting on screening results you and your partner can be working to complete more required items from your testing checklist, which is also given at the new patient visit. Depending on your age and medical history a patient’s checklist items differ.

For female patients, for example, we require Day 3 bloodwork and an HSG but if you are 40 or over you may be required to get a mammogram as well.

For male patients, all are required to have a semen analysis test. Working on these checklist items efficiently moves you into treatment faster and we will assist you in any way we can.