We are a society obsessed with information. We’re constantly connected, click-click-clicking to access a steady stream of news, data, and social-media updates. Curiosity is a powerful motivator, but there’s one area in which our thirst for knowledge has been inconsistent: genetic testing.
DNA tests have become du jour in the past decade. Technological advances and access to genomic testing translates into the ability to see what’s beneath the hood of our chromosomal cars. We’ve become obsessed with ancestry tests like 23andMe and finding out our babies’ sexes before they’re born, but we often shy away when it comes to more serious curiosities. Even though you can now easily find out if you carry the genetic mutations or changes for recessive diseases like spinal muscular atrophy, we often don’t test for these genetic glitches because we “just don’t want to know.” But it’s important that we find out.
There’s no doubt that genetics is complicated, and maybe it’s that lack of certainty that deters some people from diving into their DNA. Genetic disease can be confusing, with some mutations definitely resulting in disease and others leading only to increased risk. Some genetic diseases require that both parents have a mutation in order to stand a chance of having an affected child; others can be triggered by just one parent possessing a mutation. It’s a bit of a crapshoot.
With so many diseases and conditions transmitted in different ways and identifiable at different stages of pregnancy, it’s no wonder that some women choose to forego prenatal testing at all; adopting a head-in-the-sand approach can be easier to cope with than grappling with the uncertainties raised by a DNA test.
But when it comes to prenatal testing, information is always a good thing. Knowing ahead of time about a condition can allow parents to set up a support network of family and friends and connect with other parents who have a child with a similar diagnosis. They can learn more about the condition with which their fetus has been diagnosed, seek out medical specialists ahead of time, and choose to deliver at a hospital that has the appropriate level of care for a baby with special needs.
Being surprised by an unexpected diagnosis on the day of delivery turns what should have been a joyous day into a day marked by confusion and fear. I interviewed scores of mothers for my book, The Gene Machine: How Genetic Technologies Are Changing the Way We Have Kids—And the Kids We Have. In speaking with numerous women who didn’t know while pregnant that they would give birth to children with special needs, I’ve heard a common theme. Moms say that being surprised by an unexpected diagnosis on the day of delivery turned what should have been a joyous day—the birth of their child—into a day marked by confusion and fear. They wish they would have been aware of their child’s diagnosis so that they could have come to terms with it before giving birth. That awareness could have allowed them to educate themselves and to prepare mentally and emotionally. It could have given them a jumpstart on processing and resolving the inevitable feelings of loss that come with learning that the baby you’d hoped for is not the baby you have.
Pregnancy is not a perfect science; things can and do go awry. Worldwide, an astounding 8 million babies—6% of births—are born with a birth defect, many of which can be traced to genetics.
But even when the baby you give birth to may not be the “perfect” baby you expected, arming yourself with information ahead of time can make a big difference in how you process the experience of having a child with special needs. In 1987, Sesame Street writer Emily Perl Kingsley wrote about reconciling reality with expectations after the birth of her son, Jason, who was born in 1974 with Down syndrome.
“When you’re going to have a baby, it’s like planning a fabulous vacation trip to Italy. You buy a bunch of guidebooks and make wonderful plans. After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, ‘Welcome to Holland.’ ‘Holland?!?’ you say. ‘What do you mean Holland? I signed up for Italy! I’m supposed to be in Italy. All my life I’ve dreamed of going to Italy.’”
Some women decline genetic testing because they say that even if they receive a concerning diagnosis, they wouldn’t alter the course of their pregnancy anyway. But that’s rarely the case. As one genetic counselor told me, she’s never had a couple do absolutely nothing upon learning that their fetus has a health issue. “When people say they wouldn’t do anything differently,” she said, “that’s simply not true.” Do anything differently is often code for abortion, yet ending a pregnancy is just one option upon receiving concerning genetic-test results. Many parents decide to continue an affected pregnancy.
Other women turn down the offer of genetic testing either because they’re overwhelmed by its complexity or because they mistakenly think they’re in the clear because they have no family history of genetic conditions. But family history, while useful, is a poor predictor of potential problems.
Consider autosomal recessive diseases such as cystic fibrosis, which affects one in 2,500 white babies. (It’s less common in African American and Asian populations). If both parents carry the same genetic mutation, their children have only a 25% chance of developing the disease. Compare this with autosomal dominant mutations such as BRCA, often called “the breast cancer gene.” If either parent has a BRCA mutation, there’s a 50% chance of passing that same genetic change to a child. Then there are conditions such as Down syndrome, which aren’t typically inherited and instead occur randomly around the time of conception.
Just because no one in your family suffers from a recessive disease doesn’t mean you’re not a carrier of it. Think back to those autosomal recessive diseases such as cystic fibrosis that occur only if both parents carry a mutation. Each pregnancy conceived by these “carrier couples” only has a 25% chance of developing the disease—that means there’s a 75% chance that any child will be disease-free. A mutation for one of these diseases could be unknowingly passed down for generations before two partners with the same mutation find one another and make a baby that has the unfortunate luck to inherit both problematic mutations.
We are no longer living in an era in which women have no choice but to remain in the dark about the health of their unborn children. All parents stand to benefit from knowing about potential problems ahead of time, which allows them to be proactive and take charge. Genetic testing before and during pregnancy can empower parents to make the decisions that are right for them, whether the itinerary of parenting leads them to Italy, Holland, or somewhere in between.