Deciding whether to have a baby is one of the biggest decisions in your life. There’s so much for you and your partner to think about.
How will this affect your relationship? Your bank account? All your plans for the future?
In the end, most of us often make these decisions more with our hearts than our heads. But whether you’re still not sure, or have already decided to go full speed ahead, here’s another important question you need to ask: Is my baby at risk of inheriting a genetic disease?
Most people do not know they are carriers for an inherited genetic disease until they have an affected child. Today, however, you can get this valuable information from a genetic test done at your physician’s office. A recent study examined people’s knowledge of and attitudes toward genetic testing and found that 53 percent wanted to know what’s in their DNA and 70 percent wanted to find out if they could pass on a genetic disease.
Genetic testing lets you and your partner know if you are carriers of a mutation in one of your genes that could lead to a disease in your baby. This test is called a “carrier screen” and can be conducted by using a sample of blood or saliva provided at a physician’s office or a lab.
A recent news release from the American College of Medical Genetics and Genomics (ACMG) notes that “carrier screening for inherited genetic disorders is an important part of preconception and prenatal care for the nearly 4 million women who give birth in the U.S. annually.”
Newer tests such as Horizon™ from Natera can simultaneously screen for up to 274 genetic diseases. You can be screened for all of these, or a select few based on your ethnic background and your physician’s recommendation.
Most people are carriers of at least six to eight genetic conditions. In fact, about one in every 33 babies (3 percent) is born with a birth defect.
An estimated 30 million people in the U.S. are living with rare diseases and 80 percent of these are genetic in origin. Approximately 30 percent of children with a rare disease will not live to see their 5th birthday.
Most inherited diseases are autosomal recessive disorders, which mean that carriers have one normal and one changed copy of a gene. If both parents are carriers for the same genetic disorder, there is a 1 in 4 chance with each pregnancy that a child would be affected with the disorder.
Some diseases, such as Duchenne Muscular Dystrophy and Fragile X, are called X-linked conditions and are associated with mutation on the X chromosome. Mothers who are carriers for an X-linked disorder have a 50 percent chance of passing the changed gene to each of their children. Because boys only have one copy of the X chromosome, which is inherited from their mother, they are usually severely affected. Rarely, girls will have symptoms if they inherit the changed gene from their mothers, but usually they have no symptoms. Most people are carriers of at least one recessive or X-linked genetic condition.
Did you know that you are at higher risk of being a carrier if anyone in your family has had a genetic disease or if you belong to certain ethnic groups? For example, European Caucasians and Eastern European Jews are more likely to be carriers of Cystic Fibrosis, while African Americans and people of Mediterranean descent are at greater risk for sickle cell anemia and thalassemia.
New guidelines from genetic organizations recommend or suggest that doctors should make carrier screening available for cystic fibrosis and spinal muscular atrophy to all couples, regardless of race or ethnicity.
If the results are negative, the likelihood that you and your partner will give birth to an affected child is generally very low. That’s one less thing to worry about at a time when you already have enough on your mind.
“If you are found to be a carrier for a genetic disorder, there are two important next steps. If your partner has not been tested, it is suggested he undergo testing as soon as possible. Second, it is very important to discuss all test results with your healthcare provider. For more information, on genetic testing you can visit horizonscreen.com.
Jill Hechtman, M.D., is an OB/GYN and the Medical Director of Tampa Obstetrics, a Florida medical center for women.