Mekel Akins Bergschneider and her husband were shocked and devastated at their 20-week anatomy scan when the doctors told them the news that the baby they were expecting likely had Down syndrome. Down syndrome, also known as Trisomy 21, is a genetic disorder that occurs when there is an error causing the presence of three, rather than two, copies of the 21 chromosome. Bergschneider was 21 years old at the time and “never considered [Down syndrome] a possibility," she tells me in an interview with Romper. “I didn't even get genetic testing done when I was able to because I didn't consider myself at risk.”
This is not an unusual story. Many of the women I spoke with for this article were shocked by their child’s diagnosis with Down syndrome, since, because of their age, they didn't consider themselves to be at risk for Down syndrome. The fact remains that, contrary to common belief, according to the Center for Disease Control and Prevention (CDC), 80 percent of infants born with Down syndrome are born to moms under the age of 35. Another common theme I came across in discussions with these parents? A startling lack of information and understanding at the point of diagnosis.
October is Down Syndrome Awareness Month. Whether or not you're the parent of a child with Down syndrome, understanding more about Down syndrome is critical because Down syndrome is the most common chromosomal condition. I was personally surprised to learn that, according to the CDC, babies born with Down syndrome account for one out of every 691 live births in the United States, a figure that is up from one in 1087 in 1990. You may already know someone with Down syndrome, but if you don’t, you likely will soon. They may be your child’s classmate, or working at a store you frequent, or a new member of your family.
But with Down syndrome such a common chromosomal condition in the United States, why aren't more people aware of the facts about Down syndrome and Down syndrome screening, including the fact that most babies with Down syndrome are born to women under 35?
Down Syndrome Screening
Since women under the age of 35 have far higher fertility rates, the vast majority of children with Down syndrome are born to mothers under the age of 35.
The relationship between maternal age and the likelihood of conceiving a child with Down syndrome is commonly misunderstood. It's true that individual women over the age of 35 have substantially higher chances of conceiving a child who has Down syndrome. According to the March of Dimes, a 40-year-old woman has a one in 100 chance of having a baby with Down syndrome. This seems like a rather high rate compared to the chance of one in 1,250 at age 25, or one in 1,000 at age 30, or, even, one in 400 at age 35. However — and here’s where things get a bit unexpected — since women under the age of 35 have far higher fertility rates, the vast majority of children with Down syndrome are born to mothers under the age of 35.
Screening for Down syndrome in early pregnancy is increasingly becoming the norm and should be offered by practitioners to all pregnant women at this stage. Many screening tests are covered by insurance, although not in all instances. Out of pocket costs vary, depending on practitioners and whether or not they subsidize or cap out of pocket costs for recommended tests. I spoke with a number of mothers who are currently pregnant or had babies in the last three months — ranging in age from 24-39 — all of whom were offered early screening, although some of them declined testing. Dr. Nicole Baumer, the Director of the Boston Children's Hospital Down Syndrome Program, and Dr. Emily Davidson a pediatrician in Boston Children’s Complex Care Service explain, “The American College of Obstetricians and Gynecologists (ACOG) recommends offering prenatal screening for all pregnant women, regardless of risk factors.” Since the ACOG made this recommendation in March of this year, insurance coverage for these screening tests will no doubt increase.
Dr. Baumer and Dr. Davidson also describe the variety of screening tests available during pregnancy, which include tests and ultrasounds done in the first and second trimesters, as well as the increasingly common cell-free DNA analysis. They went on,
Each of these screening tests indicates the likelihood that baby has Down syndrome. Although the Cell-free fetal DNA test is more specific and accurate than the other screening tests, it is not diagnostic.
They clarified that the only truly diagnostic prenatal tests for Down syndrome remain invasive testing using chorionic villus sampling, amniocentesis, and cordocentesis, which all involve using a needle to collect fetal DNA through placenta, amniotic fluid, or umbilical cord. Each of these procedures carries an increased risk of miscarriage that, according to the American Pregnancy Association, ranges from as high as one in 50 with cordocentesis to somewhere between one in 200 and one in 400 for amniocentesis.
At her appointment, she was handed figures that represented chances of her child’s death before her third year of life and a list of conditions her baby would likely have if she were to survive. When she began crying, Sie Whitten said the genetic counselor responded with: "Mrs. Sie Whitten, please don’t cry, here’s a tissue 80-90 percent of people terminate; you can, too.”
Michelle Sie Whitten, co-founder of the Global Down Syndrome Foundation, says that it's important that the difference between a screening test, which only gives risk factors for Down syndrome, and diagnostic test, which definitively diagnoses Down syndrome, are made clear to patients. Prenatal blood tests are screening tests for Down syndrome, but diagnostic tests for Down syndrome still require an invasive procedure, such as an amniocentesis. She describes her organization as believing in the importance of expectant parents having access to the best prenatal information possible. This is often touchy ground for discussions of Down syndrome, because, of course, prenatal testing is often assumed to go hand in hand with consideration of abortion — a topic that is always difficult, no matter where one stands on the issue.
Sie Whitten explains that, "For the record, I am pro-choice. Global Down Syndrome Foundation is not pro-choice, is not pro-life. Global Down Syndrome Foundation is pro-information.” She tells Romper:
What we do know is that this fear of prenatal testing leading to everybody... aborting, I think is a misplaced fear. I don’t feel that fear-based action is positive action. I think that you move from a place of strength and enabling and empowering.
Sie Whitten says she believes that early diagnosis can be helpful for families to have as much time as possible to understand their child’s diagnosis.
And she speaks of this from a place of personal experience. When she was pregnant with her first child, Sie Whitten received the news that her daughter had Down syndrome. She said she was shaken, particularly by how the news was delivered. At her appointment, she was handed figures that represented chances of her child’s death before her third year of life and a list of conditions her baby would likely have if she were to survive. When she began crying, Sie Whitten said the genetic counselor responded with: "Mrs. Sie Whitten, please don’t cry, here’s a tissue 80-90 percent of people terminate; you can, too.” Instead, she and her husband learned more about Down syndrome.
She tells Romper:
When [we] met people with Down syndrome we were like, ‘Oh my gosh, we can do this. We’re going to do this.’ And we never looked back.
Since her daughter Sophia was born, she says, “we’ve been on this journey, really, in terms of being a family, and what that means having a child that we like to call ‘differently-abled.’” That journey lead Sie Whitten to form the Global Down Syndrome Foundation to help improve information about Down syndrome by funding medical and clinical research. One such project was the production of the Down syndrome prenatal testing pamphlet, a guide to help parents better navigate the news of their prenatal diagnosis.
The Surprise Of A Down Syndrome Diagnosis
Many of the mothers I spoke with for this article expressed that they were really surprised to find out that their child had Down syndrome. When her doctors told Mekel Akins Bergschneider that the 20-week anatomy scan of her baby showed a number of anomalies that were consistent with Down syndrome, she felt completely startled. But even more startling, for her, was what she described as her doctors' apparent assumption that she'd terminate her pregnancy. The doctors immediately asked her to schedule her amniocentesis in order to give her time to terminate the pregnancy before reaching 22 weeks. Bergschneider says,
It was like they weren't even giving me an option of not getting the amino at all. And I had never told them that termination was even an option, because it wasn't.
Rather than doing an amniocentesis, a procedure that uses amniotic fluid to definitively diagnose Down syndrome that carries with it a risk of pregnancy loss, Bergschneider opted for two of the available screening tests, a quad screen and a cell free DNA test, the results of which were both positive. They gave her, according to her doctors, a 99 percent chance that her baby did in fact have Down syndrome.
Bergschneider says, “It's crazy to me, with Down syndrome being the most common genetic condition, that doctors aren't trained on delivering a diagnosis better.” Unfortunately, her experience isn’t unusual. There have been a number of stories showing the distinct lack of sensitivity in delivering news of Down syndrome diagnoses. An Op-Ed in the New York Times that made the rounds this time last year, titled "Does Down Syndrome Justify Abortion?," a pro-choice family shared their surprise at how such diagnoses were given.
When asked what Bergschnedier wishes the doctor had said to her, she tells me:
I mean, 'congratulations.' The doctor never congratulated me or told me the good things that come along with having a child with Down syndrome.
After her son Joseph’s birth, she met with a geneticist who explained, in her words, “that Joseph did have Down syndrome, but that [didn't] mean he [was] unhealthy or that anything [was] wrong with him. [It] just [meant] that he would do things on his own time. He did tell us the health conditions that came along with [Down syndrome] but said that we would address them each as the time came. The way he told us, it seemed that he would be more like [everyone else] than different. And he is.”
It's experiences like 21 year-old Bergschneider's that have the American College of Obstetricians and Gynecologists (ACOG), as of March 1, 2016, recommending offering the non-invasive prenatal screening blood tests and ultrasounds for all pregnant women, regardless of age or other risk factors. Then more invasive diagnostic testing is offered if the screening tests show an increased risk. Her experience is also why Michelle Sie Whitten of Global Down Syndrome Foundation does work with trying to educate families about Down syndrome diagnoses.
Interestingly, while many parents I spoke to felt that their prenatal diagnoses were given in such a way to suggest that The vast majority of people terminate in the case of prenatal diagnosis of Down syndrome, the figures show that termination rates in instances of prenatal diagnoses of Down syndrome are actually dropping. One 2012 study,"Prenatal diagnosis of Down syndrome: a systematic review of termination rates (1995-2011)," published in Prenatal Diagnosis, by Jaime L. Natoli, et al., shows recent rates of termination between 67-85 percent compared to a 92-percent figure from studies in the 1980s and 1990s. The authors of the article suggest that the decrease in termination rates “may reflect progress in medical management for individuals with Down syndrome and advances in educational, social, and financial support for their families.” Others have suggested that the reduction in rates have to do with shifting demographics in the United States and wider use of prenatal testing, even among women who do not intend to terminate regardless of results.
It's important for prospective parents of children with Down syndrome to understand “there is so much opportunity… not only for your child to live a good life, a productive life, a meaningful life, but also for you to even improve for the next generation what the future lives will be like.”
Of course, not all instances of Down syndrome are identified prenatally, but often receiving the news at a child’s birth doesn’t mean it's given with much more sensitivity. One mother, Lacey Hartman Lautenschlager, whose daughter Emily was born soon after she turned 32 years old, describes how she found out about her daughter’s Down syndrome in an interview with Romper. Lautenschlager had experienced a typical pregnancy, save for seeing that the baby's kidneys were slightly enlarged, but still within normal range, on a standard ultrasound. Other than this small difference, everything else seemed to progress typically. That is, everything progressed typically until Emily was born. Lautenschlager, whose husband was deployed at the time, explains that she knew something was wrong immediately:
I never got skin-to-skin time after Emily was born. She was immediately taken to a different area to be assessed. I laid there in shock and had no idea what was wrong.
When she was given Emily’s diagnosis hours later, the doctor delivered the news and then said, “We can't catch all of them."
Clearly there's a need for greater sensitivity in the ways such information is delivered to families coming to terms with prenatal or birth diagnoses. Dr. Baumer and Dr. Davidson, from Boston Children’s Hospital, mention that many medical schools have specialized programs to educate medical students about genetic and developmental conditions like Down syndrome. These programs aim to “help doctors to develop the knowledge and communication skills to provide accurate information in a kind, balanced, and non-judgmental way.” They also note Boston-based programs for medical students — “More To Life Than Genes” and “Operation House Call" — that help medical students learn more about disorders like Down syndrome by connecting students with people with disabilities and their families.
As Sie Whitten explains, it's important for prospective parents of children with Down syndrome to understand “there is so much opportunity… not only for your child to live a good life, a productive life, a meaningful life, but also for you to even improve for the next generation what the future lives will be like.”
What Does Down Syndrome Prevalence Mean For Parents Of Typically-Developing Children?
It's important to know Down syndrome doesn't only affect parents and loved ones of people with Down syndrome. According to the Global Down Syndrome Foundation, around 38 percent of Americans already know someone with Down syndrome. And the current birth-rate figures suggest that this number is only going to increase. Additionally, according to the National Down Syndrome Society, the life expectancy of individuals with Down syndrome has more than doubled in the last 30 years, from an average life span of 23 in 1983 to 60 in 2016. People with Down syndrome are increasingly visible and active in our society, a direct result of a huge cultural shift from not long ago, when people with Down syndrome were often institutionalized or segregated from their peers. And our beliefs about what people with Down syndrome can do are also shifting dramatically.
According to Dr. Baumer and Dr. Davidson, of Boston Children's Hospital:
There are almost 250 programs in universities and colleges for individuals with Intellectual Disability, opportunities for competitive paid employment and meaningful volunteer positions, independent housing opportunities, and recognition of the importance of supporting and friendships and romantic relationships, all of which have contributed to improved quality of life for individuals with Down syndrome.
For example, Think College offers resources to help individuals with intellectual disabilities find trade schools as well as two- and four-year colleges that will meet their needs. A number of companies seek to hire employees with disabilities, including Panera Bread, Lowes, and Target. And there are a growing number of people with Down syndrome represented on television and in movies, including Lauren Potter of Glee. The stunning Madeline Stuart has made in roads for individuals with Down syndrome in professional modeling. Children with Down syndrome are increasingly appearing in advertising, spurred on by efforts by organizations like Changing the Face of Beauty, which aims for increasing inclusivity in advertising and the media.
Thanks to organizations like the Global Down Syndrome Foundation, there's an increasing amount of ongoing research into ways to further improve the health and well-being of people with Down syndrome. Research funded by Global Down Syndrome Foundation at the Linda Crnic Institute for Down Syndrome titled “Trisomy 21 Consistently Activates the Interferon Response” and recently published in eLife, suggests that people with Down syndrome may consistently have an immune response to an infection they do not have, which could contribute to some of the symptoms of Down syndrome.
"When you look at intelligence not as a test score or an IQ, you suddenly become a lot more inclusive in terms of how you look at all people and their capabilities."
Sie Whitten tells Romper that there are FDA-approved drugs that could help counteract the effects of this immune response , which will be tested in continued research. This kind of research for Down syndrome was relatively new when Sie Whitten’s daughter was born. She tells me that, in fact, Down syndrome research of any sort was lacking. At the time, “Down syndrome was the least funded [known] genetic condition at the National Institute of Health," she says.
All of these changes in birth rates and quality of life for people living with Down syndrome suggest that even if you don't have a child with Down syndrome, it's likely that you and your children will interact with children and adults with Down syndrome. As Dr. Baumer and Dr. Davidson explain:
Research has shown that inclusive philosophy improves the lives of children with and without disabilities and help raise awareness and acceptance of those with differences and diversity. Parents of children with and without Down syndrome can help their children develop friendships by including classmates in birthday parties, outings, and playdates.
For example, it's helpful to be aware of preferred language when discussing Down syndrome in order to help model thoughtful language when interacting with people with Down syndrome. The National Down Syndrome Society’s Guide for preferred language offers several tips for sensitivity, including using Person-First Language, meaning, for example, that a child with Down syndrome should not be referred to as a “Down syndrome child,” but rather "a child with Down syndrome." They also recommend not referring to the disorder as “Down’s” but rather by the full name: Down syndrome. Furthermore, they remind that the terminology of “mental retardation” has been replaced by "cognitive disability" or "intellectual disability."
Culturing these kinds of sensitivities as we model for our children how to interact with people who are different than we are in some way is so important. However, equally important is finding the ways in which we all share commonalities. Sie Whitten explains,
I think first and foremost [you have to explain] that people with Down syndrome are different, but equal [and] if you come from that ilk and you really believe in human and civil rights, you don’t know who your child is going to be or what your child is going to do, whether that child be typical or differently-abled. And when you look at intelligence not as a test score or an IQ, you suddenly become a lot more inclusive in terms of how you look at all people and their capabilities, and hopefully more respectful as well.
This kind of inclusivity and respect serves the entire population.