5 Reasons Why Genetic Carrier Testing is Highly Recommended by Your Doctor

Genetic Testing, Pregnancy, Reproduction, Illnesses

If you and your partner are like most aspiring parents, deciding to start a family has you both occupied with all the ways you can improve your lifestyle and overall well-being to boost your chances of having a normal pregnancy that leads to a healthy baby.

Achieving optimal preconception health is a highly personal undertaking. For some, it may include taking steps to become more active or reach a healthier body weight, while for others it involves eating a more nutritious diet or getting up to date on important immunizations.

No matter what your personal preconception health plan looks like, however, chances are it includes strategies to eliminate your baby’s risk of developing a preventable birth defect. You probably take a prenatal vitamin with folic acid to help prevent brain and spine defects. And you most likely avoid harmful substances like alcohol and tobacco, and have meticulously reviewed your prescription medications to ensure they’re safe to take during pregnancy.

But to truly minimize your baby’s risk of being born with a serious birth defect, you and your partner should also consider undergoing genetic carrier testing, also known as preconception genetic screening. Here’s what makes it so valuable, and why we recommend it for all would-be parents who come to our practice.  

1. Most carriers don’t know they’re carriers

If you’re a “carrier” of a genetic disease, you probably don’t know it. Being a carrier means that even though you don’t have an inherited illness, your body carries a mutated gene for a specific disorder that can be passed on to your children.

Opting to have genetic carrier testing before you become pregnant gives you a way to find out whether you or your partner carry any recessive genes for a wide range of serious inherited disorders.

2. Genetic birth defects aren’t as rare as you may think  

Birth defects, including inherited genetic disorders, are fairly common, affecting approximately 3% of all newborns — that’s one out of every 33 babies born in the United States each year.

Although many infants with birth defects are born to parents who don’t have any known risk factors, parents with known genetic risk factors do have an increased chance of passing on an inherited disorder.

If both you and your partner have a mutated version of the same recessive gene for cystic fibrosis, Fragile X syndrome, Tay-Sachs disease, or any other inherited illness that arises when two recessive genes come together, there’s a 1 in 4 chance your child will receive the gene from each of you and be born with the disorder.

3. Family history isn’t always a significant factor

In the past, experts primarily recommended genetic carrier testing for men and women with a family history of genetic illness, because having a known history was — and to a large extent still is —considered to be the most significant risk factor for passing on an inherited disorder.

While it’s certainly true that being related to someone who has a genetic disease may mean you have a greater risk of being a carrier, more often than not, carriers of genetic disorders have no known family history at all. In fact, by some estimates, as many as 80% of genetic birth defects occur without the presence of a known family history.

4. Some inherited illnesses only require one defective gene

Although many inherited illnesses — also known as autosomal-recessive genetic disorders — only occur when two defective genes (one from each parent) come together, genetic diseases that are autosomal-dominant only require one copy of a defective gene.

Huntington’s disease is one example of an autosomal-dominant genetic disorder. That means if either you or your partner carry the gene for this condition, your child has a 1 in 2 chance of inheriting the disorder. This is why it’s important for both parents to be tested.

5. Expanded genetic carrier testing goes beyond ethnicity

For many years, physicians recommended targeted genetic carrier testing — screening that only covers certain inherited diseases — for couples with either a known family history of those specific disorders or for men and women whose ethnic background increases their risk of carrying the genes for those disorders.   

It’s true that some inherited diseases occur at an increased rate in certain ethnic populations. For example, people of African descent are more likely to carry genes for sickle cell anemia, while people of Caucasian or Northern European descent are more likely to carry genes for cystic fibrosis. But a targeted screening approach provides limited information.

Today, thanks to ongoing advances in genetic testing technology, we can offer expanded carrier testing for a complete range of genetic disorders, regardless of your ethnic background or known family history.  

Once you know your risk, what’s next?

If you and your partner both test positive for the same autosomal-recessive gene disorder, or if either one of you test positive for an autosomal-dominant genetic mutation, there are steps you can take to ensure your baby isn’t born with an inherited illness.

Here at Vicken Sepilian, MD, we offer comprehensive pre-implantation genetic diagnosis (PGD) services for all prospective parents whose preconception genetic carrier testing reveals any risk of passing on an inherited disease.

After creating a viable embryo with your egg and your partner’s sperm, we use PGD to screen it for possible genetic defects before conception, or before it’s implanted in your womb via in-vitro fertilization (IVF).  

To learn more about the benefits of genetic carrier testing or to find out how PGD can help you eliminate your risk of passing on an inherited disorder, call our nearest office in Glendale or Santa Monica, California, or use the easy online tool to schedule an appointment with Dr. Sepilian.

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