Pregnancy often comes with mixed emotions. While it can be one of the most joyous times of a parent’s life, it can also instill a lot of worry.
Although most babies are born healthy, there is a small chance for a birth defect, chromosomal difference or genetic condition in every pregnancy. There are currently hosts of prenatal tests available to expecting mothers, many of which are aimed at identifying genetic differences in a pregnancy.
This rapid growth in prenatal testing is not because the risk is any higher now; it is due to the advances in technology. Parents, now more than ever, have choices to make about what level of information they want during their pregnancy.
Helping parents make decisions starts with understanding the difference between myth and reality.
MYTH: Every pregnancy needs genetic testing.
The decision to pursue prenatal testing is by and large up to the woman or the couple. We offer all pregnant women the option to discuss prenatal genetic testing, but the decision is truly a personal one.
As a prenatal genetic counselor, I work with women and couples to help them determine what information may be most helpful to them during pregnancy. Some women/couples feel that the information provided from a genetic test could be helpful, while others feel the information may only cause worry or anxiety.
There is no right or wrong answer; every woman/couple has different goals. Because each pregnancy is different, it is important to have these conversations so that well thought choices can be made.
MYTH: Prenatal testing is not helpful because I would not end my pregnancy.
Prenatal testing is not only about deciding to keep or end a pregnancy; it is about maximizing the outcomes for the child and preparing doctors and families for any special needs that may arise. For example, a prenatal diagnosis of Down syndrome might prompt targeted ultrasounds or a change in delivery plans.
Having a diagnosis prenatally can help parents become educated about the diagnosis and feel more empowered in their ability to care for a child with a genetic condition.
MYTH: Prenatal testing is only for the high risk (e.g., maternal age of 35+ at delivery).
I’ve said it once and I’ll say it again: maternal age is an outdated model for determining what test is best for a family. While there are some chromosomal differences that gradually increase with maternal age (Down syndrome, for example), there are a number of other chromosomal differences that have nothing to do with age.
All patients, regardless of age, should be educated about the availability of screening and diagnostic testing. Prenatal testing decisions are more about the preferences and values of the pregnant woman than about her age.
MYTH: You have to be pregnant to have testing.
Tests are now available for couples who are thinking about starting a family. These tests aim to determine if a parent is a carrier of a genetic disorder that could be passed unknowingly to their child. This type of testing is called carrier screening.
When discussing this, many patients say to me, “Why should I think about carrier screening? There is nothing in my family history.” I often reply that when babies are born with a genetic disease, the parents often look around to see who in their family is affected. In most cases, the answer is no one. This is because the types of conditions looked at in carrier screening are those that occur due to the combination of both parents.
While 99.9 percent of genes are the same from person to person, we all harbor genetic mutations, or genes that don’t work properly. On average, we all carry three to five genetic conditions. If both members of a couple happen to carry the same condition, there is a chance to have a child with that particular disorder.
Carrier screening enables parents to be informed and educated so they can make the right decisions for their growing family.
MYTH: A normal result means a healthy baby.
There is no prenatal test (nor do I suspect there ever will be) that guarantees a healthy baby. The goal of prenatal testing is not to generate perfect babies, but to help provide families with information that enables them to make the best decisions for their family and their baby.
“The are no perfect human specimens — we are all genetically flawed in some way.” — F. Collins
After all, what fun would it be if we weren’t?
- What testing for birth defects can tell parents
- Carrier test shows what genetics parents may pass to kids
- Cell-free DNA testing for Down syndrome explained