Genetics play a tremendous role in your fertility – and that goes for both you and your partner. Most miscarriages occur as a result of chromosomal and/or genetic anomalies. The body has a remarkable ability to detect that all is not well – sometimes with an egg that is released or the sperm that enters the cervix, and other times it notices red flags during fetal development.
Consider Pre-Conception Genetic Carrier Screening
There was a time when these types of miscarriages – or the birth of a baby with a genetic disorder – were unavoidable. Now, however, we have ways to predict whether you’re more prone to conceiving a baby with a genetic defect or not. This information can help us create a personalized fertility plan.
Pre-Conception genetic carrier screening is extremely affordable – in most cases it costs less than $400. All or a portion of the costs are often covered by health insurance carriers. It’s a very small price to pay when you consider the tremendous emotional and financial toll placed on families who have a baby with a serious genetic disorder or disease – the large majority of which are incurable.
Based on a simple blood test, genetic carrier screening can identify whether you’re a carrier for a range of genetic disorders. The most commonly screened markers are:
- Cystic fibrosis
- Tay Sachs
- Sickle cell anemia and other blood disorders
- Fragile X syndrome
- Spinal muscular atrophy
More complex screenings can test for as many as 400 or more other genetic disorders, but the more disorders you screen for over and above the basic options, the more expensive the process is.
Who Should Consider Genetic Screening?
If your insurance covers it and/or you can afford it, we recommend genetic screening for all patients planning to get pregnant. It’s especially important for:
Those with a known history of genetic disorders
Do you have a known genetic disorder? Did someone in your immediate family have a genetic disorder? If so, there’s a higher chance you’re a carrier. The same is true for your partner.
You’re from an ethnic majority with a higher risk of a certain disease
Virtually every ethnic majority has a higher-risk for different genetic disorders.
- Caucasian: Cystic Fibrosis
- Ashkenazi Jew: Tay Sachs and Gaucher disease as well as others
- African: Sickle Cell disease
- Southeast Asian and/or Mediterranean: Thalassemia
- French Canadians: Tay Sachs
How Does Genetic Screening Help?
The results of your genetic screen can help you plan your pregnancy. For example, if neither of you is a carrier, you can’t conceive a child with the disorders you were screened for. If one of you is a carrier but the other is not, your children will not be born with the disorder but could be carriers. If both of you are carriers, your child has a 25% chance of having the genetic disorder.
If you test positive, your doctor will counsel you regarding your fertility options. We also recommend contacting the National Society of Genetic Counselors or the American Board of Genetic Counseling.