October is Down Syndrome Awareness Month. Though an annual campaign, it seems particularly relevant right now due to recent high-profile controversies involving negative perceptions of Down syndrome pregnancies.
You may be familiar with the recent media storm over Down syndrome and surrogacy. In late July, after paying a Thai surrogate to carry twins, an Australian couple returned home with only one of their children – rejecting the other because it had been born with Down syndrome.
The situation hit the headlines when the surrogate mother appealed for assistance in raising the child.
The ensuing moral debate only deepened when the father of the children demanded their money back from the surrogacy agency and commented to Australian media that he would have preferred the pregnancy be terminated: “I don’t think any parent wants a son with a disability.”
This week it has been reported that more than $240,000 has been raised to help provide a home and cover medical costs for the baby.
The Australian case prompted a San Franciscan couple – Keston and Andrea Ott-Dahl – who had been through something similar, to publicly relate their experience. In 2012, Andrea Ott-Dahl had agreed to be a surrogate for friends of hers – another lesbian couple who wished to have a child using the sperm of a gay male friend.
However, when the fetal exam revealed that the baby had Down syndrome, the intended moms requested that Andrea abort. In fact, abortion had been stipulated as a course of action in the surrogacy contract, should medical complications occur.
“We had said we’d terminate at their request for medical reasons,” Keston told Yahoo! Health. “But nobody ever thought we’d be in this situation. I’m not proud of this, but I agreed. I was terrified of people [with Down syndrome], repulsed, and I sympathized with them for backing out.”
The Ott-Dahls eventually decided against abortion, triggering a complex legal battle with the intended parents. The couple have now established The Delaney Ott-Dahl Foundation – named after their daughter – to spread awareness of prenatal testing and educate parents on what the couple describe as the high quality of life available to children with Down syndrome today.
The issue of quality of life is central to the dilemma faced by prospective parents who are told that the fetus the mother is carrying has Down syndrome. Although the decision on whether or not to abort is an individual one, some campaigners have argued that couples may feel pushed toward termination as an option, as a consequence of misperceptions on the quality of life associated with people who have Down syndrome.
This debate was perhaps best illustrated in another recent controversy involving the ethologist and evolutionary biologist Richard Dawkins. In late August, Dawkins responded to a tweet hypothetically asking whether one of his Twitter followers should carry to term a child with Down syndrome.
Dawkins’ reply was typically blunt: “Abort it and try again. It would be immoral to bring it into the world if you have the choice.” Expanding on the tweet, he later argued that – in his view – it is the moral duty of all of us to reduce overall suffering wherever possible.
A response piece in The New York Times by Down syndrome researchers Jamie Edgin, assistant professor of psychology at the University of Arizona, and Fabian Fernandez, research associate at the Johns Hopkins University School of Medicine in Baltimore, MD, countered that “Mr. Dawkins’s argument is flawed. Not because his moral reasoning is wrong, necessarily (that is a question for another day), but because his understanding of the facts is mistaken.”
While acknowledging the challenges posed by families caring for children who have Down syndrome – including a high likelihood of surgery in childhood and Alzheimer’s disease in adulthood – Edgin and Fernandez argue that to suggest “suffering” is implicit in Down syndrome simply goes against the available evidence on the condition.
Among the research cited by the pair are studies that found:
- Parents of preschoolers with Down syndrome
experienced lower levels of stress than parents of preschoolers with autism - Divorce rates in families with a child with Down syndrome were lower on average than in families with children with other disabilities or no disabilities
- 88% of siblings reported feeling that they were better people for having a younger sibling with Down syndrome
- 99% of respondents in a survey of people with Down syndrome over the age of 12 stated they were personally happy with their own lives.
“The Down syndrome advantage” is a term used by researchers to describe the scenario where, despite the associated health problems, children with Down syndrome often display equivalent levels of well-being to nondisabled children.
Edgin has researched one facet of the Down syndrome advantage, which shows that, despite having low IQ scores, children and young adults with Down syndrome score very strongly for “adaptive” skills. She describes adaptive behavior as “a measure of how well people are functioning in their environment, such as the quality of their day-to-day living and work skills.”
Whether this recent evidence suggests that the burdens associated with Down syndrome may not be proportionate with the fear of Down syndrome described by Keston Ott-Dahl among the general population is difficult to determine.
However, as we shall see in a moment, other researchers have suggested that a more positive media portrayal of people with the syndrome in recent decades may have contributed to an increase in families carrying Down syndrome fetuses to term, combined with progress in improving medical information available to prospective parents.
In line with the aims of the Delaney Ott-Dahl Foundation, several states – Massachusetts, Virginia, Kentucky, Missouri and Pennsylvania – have recently passed laws that require medical professionals to provide expectant parents with accurate, up-to-date information on Down syndrome should they receive a prenatal Down syndrome diagnosis.
Interestingly, a new study from researchers at the University of California-San Francisco – published in JAMA – found that the more expectant mothers know about the prenatal genetic testing available for Down syndrome, the less likely they are to have the tests.
Recruiting 710 women from California who were a maximum of 20 weeks pregnant, the researchers randomized the expectant moms into two groups. All of the participants were informed that prenatal genetic testing was an option available to them.
Half of the women received usual care, while the other half comprised an intervention group with access to an interactive decision-making guide and to prenatal testing at no cost.
The researchers found that 5.9% of the better-informed intervention group went on to have the tests, compared with 12.3% of the usual care group.
“This does not mean that women in general don’t want testing,” said lead author Miriam Kuppermann. “But it does suggest that at least some women have undergone testing without having clarity about the implications.”
Kupperman says the findings show that prenatal testing is not appropriate for all women, and that moms need “information that is readily understood and unbiased to enable them to make informed choices reflecting their own preferences and values.”
She adds:
“As prenatal testing becomes easier with cell-free DNA testing, a highly accurate blood test for Down syndrome, it is particularly important that women understand the implications of having this test so they can decide whether or not to opt for it.”
Previously, obstetricians could only make an educated guess at whether a mother might be carrying a fetus with Down syndrome, based on ultrasound markers and blood levels of various chemicals. An invasive test – such as amniocentesis – was the only way to tell for certain, but such tests come with a risk of miscarriage.
However, in recent years, cell-free DNA testing has allowed genetic abnormalities in the fetus to be more accurately detected, including Down syndrome.
In a 2012 article on these new blood tests, Adam Wolfberg, an obstetrician and clinical instructor at Harvard Medical School, examined data from studies suggesting a possible decline in Down syndrome-related terminations – from 90% in 1999 to an estimated 60-90% by 2011. He also reported that the number of babies born with Down syndrome has increased slightly in the US, to about 6,000 annual births.
However, the researchers quoted in Wolfberg’s piece were unsure whether the new tests would prompt the termination rate to go up, down or stay the same. “A lot of people think it will go up, but I wouldn’t be surprised at all if it went down,” said Jaime L. Natoli, a senior consultant in the department of clinical analysis at the Southern California Permanente Medical Group in Los Angeles.
Natoli explained that families have significantly more educational, social and financial support than in the past, which contribute to family-planning decisions. Also:
“[…] from a social standpoint, women of childbearing age are from perhaps the first generation who grew up in an era where individuals with Down syndrome were in their schools or daycare centers – perhaps not the mainstream integration that we see today, but still a level of exposure that was very different than in generations prior. They grew up watching kids with Down syndrome on Sesame Street.”
If society is moving toward a more accepting view of people with Down syndrome – measurable, as Natoli suggests, by an increased number of Down syndrome births – then what aims does scientific research have for improving health outcomes in the growing number of citizens with Down syndrome?
In the second part of this spotlight feature, we look at where the latest scientific research into Down syndrome currently stands, and speak to researchers who are using groundbreaking methods and technology in an attempt to improve outcomes for people with Down syndrome.