Is Prenatal Genetic Screening Right for You?


For first-time mothers, prenatal doctor's visits can sometimes seem like an overwhelming blur. There's so much information to absorb and so many decisions to make during the pregnancy and once the baby is born. One of the first medical decisions you'll have to make for your child is what kind of testing you want done while you're pregnant. Genetic screening is offered by most obstetricians, and it can be controversial in some circles. Take a look at what you need to know about prenatal genetic screening so you can decide whether or not it's right for you.

What Is Genetic Screening?

The process of genetic testing is simple and routine. You'll have blood drawn, which can be done in your doctor's office or at a lab. The blood sample will be examined for certain markers that may indicate a genetic disorder. Around the same time, you'll also have an ultrasound so that the doctor can get a first look at the baby. Depending on the type of test your doctor uses and what the initial screening shows, you may need a second blood draw later in the pregnancy.

Unlike amniocentesis, which involves sticking a needle into the uterus to take a sample of the amniotic fluid, or chorionic villus sampling (CVS), which involves taking a sample of cells from the placenta, genetic testing is non-invasive and safe for the mother and baby.

Benefits of Genetic Screening

For many parents, genetic screening is reassuring. If you or your partner have risk factors that make a genetic disorder more likely, or if you're just worried, a negative result on a genetic screening can help put those fears to rest so that you can focus on having a healthy pregnancy and birth. Risk factors for a genetic disorder include advanced age, family history of genetic disorders, and previous miscarriages, among other things.

For the parents that get a positive result, genetic screening can help them take action to ensure their baby's health. While you may not be able to cure a genetic condition, there may be medications you can take or other things you can do to protect your baby in utero and assure the healthiest possible outcome. These days, you even have the option of fetal surgery, which can repair certain problems before the baby is born.

There's also the option of terminating the pregnancy in the event of a positive result, especially if the fetus's condition is severe, painful, or incompatible with life. The decision to terminate is one that no happily expectant parent wants to make, but it can be the right choice for some parents in this situation.

Drawbacks of Genetic Screening

It's important to remember that genetic screening is just that—screening. It does not give you a definitive answer about whether or not your child has a genetic disorder; it only predicts whether or not a disorder is possible. It's entirely possible to get a false positive. In fact, a study in the New England Journal of Medicine found one popular brand of genetic test was wrong more than half of the time.

That means that a positive genetic screening is often a cue to take more tests, including invasive ones like amniocentesis and CVS. Some parents prefer not to subject themselves or their babies to these tests and the risks that accompany them. In that case, they may prefer not to begin the genetic screening process at all.

There's no right or wrong answer when it comes to genetic screening; it's a decision that you should make with the help of your obstetrician and your partner. Knowing the facts can help you make the right decision for you and your family.

Talk to your doctor or a doctor like George L Stankevych MD for more information about genetic screening. 


11 July 2016