By Jill Hechtman, MD

Thinking about having a baby? If so, you and your partner can easily find plenty of information to help you decide if you’re ready for this life-changing event. But there’s one important question that’s usually missing from most lists of would-be parents:

Are we at risk of passing down a genetic disease or major birth defect to our child?

Most people are unaware that they are carriers for a genetic disorder until they have an affected child. Knowing this before your child is born can help you prepare for the future and make the reproductive choices that are right for you and your family.

According to NetWellness, about 3 -4 percent of all newborns have a genetic disease or major birth defect, and 1 percent has a chromosomal abnormality. The National Organization for Rare Disorders (NORD) reports that nearly 1 in 10 Americans live with a rare disease and two-thirds of them are children.

Fortunately, advances in genetic testing have made it much easier for parents to learn if they are carriers of genetic diseases. If you’re considering a first-time adventure in parenthood or adding another child to your family, here are some facts you should know about genetic testing and the risks for genetic diseases that can help inform your decisions.


How Does Genetic Testing Work?      


Genetic screening tests provide information on whether prospective or expecting parents have abnormal genes that can lead to certain diseases in their baby. For most of these diseases, known as recessive disorders, the child can only be affected if both parents have a specific recessive gene. Some diseases, however, are carried on the X chromosome that comes only from the mother. Most people are carriers of at least one recessive or X-linked genetic condition.

Genetic screening tests can be conducted at a physician’s office or at a nearby lab simply by providing a sample of their blood or saliva. Most patients receive their results in about two weeks. If they don’t have any genetic issues from the test, their partner usually doesn’t need to be tested.


Who Should Consider Genetic Screenings?      


For genetic screening tests like Horizon, both men and women (including egg and sperm donors) are eligible. This screening test will help individuals and couples understand if they are carriers for hundreds of possible genetic diseases.

Non invasive prenatal screening tests (NIPTs) are simple blood tests that screen for chromosomal abnormalities for women in their early stages of pregnancy (as early as nine weeks gestation). In addition, NIPTs like Panorama, can also determine the baby’s gender in as early as 9 weeks.

NIPTs like Panorama can offer an accurate, easy and non-invasive way to obtain important health information on the fetus. If the screening results indicate your fetus may be at risk for a genetic disease, your doctor may recommend a confirmatory test such as a CVS (chorionic villi sampling) or amniocentesis.

The American College of Obstetricians and Gynecologists (ACOG) and Society for Maternal Fetal Medicine (SMFM) Committee recently updated their published opinion to state that all women, regardless of their risk status, may choose a non-invasive prenatal test.


What Do the Test Results Mean?      


A genetic screening test does not provide a diagnosis, but its results can give you a clear idea of your risk for passing along certain genes. If either you or your partner does not carry a recessive gene, your child will most likely not inherit the condition. If you are both carriers, your child has a 1 in 4 chance of being affected, and a 1 in 2 chance of being a carrier.

It’s important to always discuss screening tests and results with your doctor before making any decisions. Your doctor also may be able to recommend a genetic counselor, or you can find one through the National Society of Genetic Counselors or the American Board of Genetic Counseling. Genetic counselors can work with a patient to discuss further discuss test results, provide additional information and support to families who have members with genetic disorders and to families who may be at risk for a variety of inherited conditions.


What Are The Benefits of Taking a Genetic Screening Test?     


Genetic testing can arm couples planning to have children and women in their early pregnancy with important knowledge on the genetic health of themselves and possibly their unborn baby, allowing peace of mind for many, and helping to better prepare those who might be at risk for a genetic condition.

For more information on genetic and prenatal tests, please go to www.natera.com.

Dr. Hechtman is an OB/GYN and the Medical Director of Tampa, Florida’s leading medical center for women, Tampa Obstetrics.

The One Question Most Would-Be Parents Are Forgetting to Ask

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