Amy Rounds had a "funny" result from a standard pregnancy screening test that looks for fetus abnormalities. Given her age and other factors, the 31-year-old expectant mother was told that she had a 1 in 240 chance of having a child with Down syndrome. The genetic condition, in which the child has an extra chromosome, results in mental retardation and carries additional risk for heart disease and other illnesses.
The news was devastating for Rounds, of Westminster, Vt.
"I wanted this child so bad," she says. "It had taken us a year to get pregnant, and I was very upset about the possibility of having a child with Down syndrome."
In order to confirm the presence of the condition, she was scheduled for an ultrasound two weeks later.
"During those two weeks I cried a lot," she says. "I remember clear as day: [It was a] Saturday morning at work, I was talking to my co-worker and I said, 'I would never bring a child with Down syndrome into the world.'"
Her plans included an abortion, and a "proper funeral" for the fetus.
"It tore my soul out those two weeks," she says.
But then an unexpected thing happened: The ultrasound came back fine.
Rounds was relieved, but when her daughter, Olivia, was born on Oct. 21, 2005, doctors immediately noticed that she appeared to have a birth defect.
"I was lying on the table, had not even seen her yet and the pediatrician came in to the operating room, and said, 'We believe your daughter has Down syndrome,'" Rounds remembers. "Words cannot express what I felt in those first few minutes."
Rounds' nightmare may be especially painful, but many parents have lived a version of it, and faced the same difficult questions -- thanks in part to new medical technologies which can raise as many questions as they answer.
Out of every 100 pregnancies, three or four babies will have some form of birth defect -- either from genetic mutation or some other cause, says Marta Kolthoff, assistant professor of Reproductive Genetics at the University of Pittsburgh School of Medicine.
Down is among the most common genetic abnormalities; according to the National Down Syndrome Society, roughly 1 in 733 children are born with the condition.
What happens when a birth defect is diagnosed, however, is harder to predict.
"People would never imagine being in this situation, so once they're in it, they do things they'd never imagine they would do," says Kolthoff.
A high percentage of parents choose abortion ... though the rates fluctuate greatly depending on where the parents live.
In Pittsburgh, Kolthoff estimates, somewhere between 50 to 70 percent of mothers who find out their child has a birth defect abort. (More exact numbers are hard to come by, she says.) On the East and West coasts, however, the percentage is higher -- roughly 80 percent.
The disparity "probably reflects the more liberal persuasion of those areas," Kolthoff says. "I almost think of it as a red-state/blue-state phenomenon. When you get out to the coasts, and especially the metropolitan areas, you have very different reactions than you would find in Pittsburgh."
But Kolthoff cautions against broad generalizations. Some of the statistics surrounding the decision to terminate a pregnancy are unsurprising: "The more severe the diagnosis, the more likely the couple is to abort," Kolthoff says. But beyond that, she says, "Almost nothing is intuitive." For example, she says, "Young women -- [younger] than 20 years [old] -- are less likely to abort. ... My guess is that the young population aren't sophisticated enough to realize what they're in for."
But in any case, "Religion [or] culture do not necessarily predict who aborts and who doesn't," Kolthoff says. "It is not uncommon to counsel a patient with a severe fetal anomaly, have them tell me that they are a devout Christian, that abortion is a sin, but they need to abort regardless."
In such cases, parents have an extra hardship to bear. "Obviously, there is a stigma associated with abortion, even for genetic reasons," Kolthoff says. "I have seen many of my patients suffer in silence, unable to tell their families or church about the decision they made."
Some women who made a different choice, however, are anything but silent about it. They fear that aborting children with birth defects risks devaluing those that are born.
"I think parents, for whatever reason, terminate out of ignorance and fear," said Samantha Oliveira, a Massachusetts parent of a child with Down syndrome. "Some people might feel it is a blow to their ego; how could they create anything less than perfect?"
"To abort a child for any reason in my mind is wrong, but to abort because of a defect is selfish," agrees Diana Vinzani, who manages the Somerset County chapter of the Special Olympics. Her 27-year-old son, John, was born with Down syndrome. But as Vinzani looks at it, "You don't know what that child may teach you and give to you in your lifetime -- and who's to say that your child may be born perfect, and then by some accident or illness become mentally or physically disabled? Then what do you do with them -- kill them because they are now no longer perfect?"
But some say the simplest way to handle these decisions is to do less testing.
"The issue that I have with genetic testing is that it appears to be done solely to determine if the fetus [is abnormal], and if so, the family will have the opportunity to terminate," says Harmoni Eknes, a Minnesota mother of a child with Down. "My soon-to-be sister-in-law is 12 weeks pregnant [and] when her doctor found out that her nephew has Down, he said, 'Would you like to have the testing done so you can terminate?' All I could think is, 'What an ignorant man.'"
Most parents choose to have the testing done. "The vast majority of patients have some type of pregnancy screening for birth defects and chromosomal problems," Kolthoff says -- usually because parents just want "reassurance that the pregnancy is healthy.
"This reflects our information-age society, where every pregnancy complication is widely publicized no matter how rare," she surmises.
Some parents have additional reasons for getting a prenatal screening.
Genetics counselors often advise stepped-up scrutiny if there is a family history of genetic disease or other birth defects, or if the mother has a high-risk medical condition like a seizure disorder, or has been abusing drugs or alcohol. Medical treatments -- like exposure to X-rays or prescription drugs that can cause birth defects -- are also taken into account. And according to UPMC genetic-counseling documents, warning flags can also be raised if the mother is over 35 years old, Ashkenazi Jewish, African American or of Mediterranean ancestry.
Many area hospitals offer prenatal genetic tests to determine whether the fetus has the right amount of chromosomes; whether the parents passed genetically mutated DNA; and to prepare both parents and hospitals for either an adequate birthing location or an abortion.
Tests can check the mother's blood for abnormal chemical levels -- such as human chorionic gonadotrophin (commonly referred to as hCG), and pregnancy-associated plasma protein (commonly referred to as PAPP-A) -- and are conducted between 11 and 14 weeks into the pregnancy. Women are more likely to give birth to a child with Down syndrome if they have high levels of hCG and low levels of PAPP-A.
Ultrasound tests can also be used to test for Down: The tests can measure the amount of space between the skin and the spine at the fetus's neck; the larger the space, the higher the probability of Down syndrome.
Such tests can identify up to 95 percent of fetuses with Down syndrome, says Deborah Driscoll, a specialist in reproductive genetics in Philadelphia's University of Pennsylvania Health System, said. Given the medical needs of those at-risk infants, "It is medically reasonable to offer testing," she says.
Genetic counselors are meant to act as a guide, offering options, and to help educate people about disorders.
Driscoll said she makes sure that parents have a "very good understanding of the natural history of the condition, possible treatments, prognosis; [I also] recommend where they can get information; sometimes provide them with literature or other consultations with specialists." She also discusses the options: continuation, adoption or abortion.
It's the last option, of course, that inspires the most controversy. Some have suggested that when coupled with pre-natal testing, a woman's right to choose can be a form of eugenics -- weeding out less-than-perfect children before they are born.
"Has America really chosen to welcome and love only children who are wanted or who are 'perfect'?" former Sen. Rick Santorum rhetorically asks in his 2005 book It Takes a Family. "The answer ... seems to be, Yes. At a time when the number of Down syndrome children being born should be increasing (since a higher proportion of older women are having babies), the number of children being born with Down syndrome is declining. Why? Because growing numbers of these special children are being aborted." Santorum likens the practice to Nazi eugenics programs.
But Kathy Pollitt, a columnist for The Nation magazine, weighs in from the feminist perspective.
"Prenatal testing is about allowing individual parents to decide whether they have a child with major incurable genetic defects, some of which are incompatible with life," she says.
And parents, she says, deserve the opportunity to decide how much they can bear.
"The people who oppose testing often talk as if it was frivolous to want a healthy child, and as if prenatal testing would lead to a world that would tolerate only perfect people," she says. "If they really believe this, they should oppose modern medicine.
"Fact is, they needn't worry; there will always be lots of babies and children with major challenges due to birth injuries, accidents, illness and genetic conditions we can't test for."
And parents whose children have Down syndrome agree: Raising a child with a disability can be rough.
For example, Oliveira's son Noah spent the first 16 days of his life in the intensive-care unit; at 3 months old he was diagnosed with seizures; at 8 months old, he had open-heart surgery.
Noah is also taking longer than usual to reach developmental goals.
Oliveira's two other children -- who do not have disabilities -- both learned to crawl, walk and potty-train effortlessly and instinctually, she says. "With Noah, it takes myself, my husband and a team of specialists: [an] occupational therapist, a physical therapist and a speech therapist, to come to our house every week," Oliveira explains. At 20 months he is just getting the concept of crawling.
"It's been quite a ride," says his mother, "but I have realized that our lives need to slow down; we really need to appreciate what we have,"
Rounds' child, Olivia, required open-heart surgery soon after her birth. She went home with her parents, but Rounds says her daughter continues to struggle with her health. In the past five months, her daughter has had chronic ear infections, and has subsequently had two surgeries to reduce the inflammation. She also has chronic constipation: "Pooping is a challenge every day," Rounds says. Moreover, she takes medication that "she hates and spits out," and has a hard time understanding the concept of getting hurt. As a result, the Rounds family has had to keep a watchful eye on her at all times.
Rounds has "missed a lot of work due to her [child's] illnesses, and doctor appointments." While her current employer is understanding, Rounds fears she may have a hard time finding the same compassion if she changes jobs.
And things don't get easier as the child ages.
On one hand, the opportunities for people with Down syndrome are expanding: "[M]ore teens and adults with Down syndrome each year are graduating from high school, going to college, finding employment and living independently," the National Down Syndrome Society notes. "The opportunities currently available to individuals with Down syndrome have never been greater."
Through her work managing Somerset County's Special Olympics program, Vinzani knows some of those opportunities firsthand. "We go year-round, doing 10 different sports" for mentally and physically disabled athletes in Somerset County alone. Still, she confesses, "Sometimes my heart really aches when I see what his friends have done with their lives: going to college, getting married or just driving a car."
For Susan Davis, families with disabled children don't have any easy solutions. But she's trying to help.
Both a pro-choice advocate and a strong voice for disability rights, Davis asked herself how she could reconcile these beliefs. So she founded Every Child Inc., an organization which gives parents a little wiggle room to decide for themselves.
Every Child provides services to children with disabilities and their parents, offering counseling and a range of adoption and foster-placement services -- all at no charge.
The organization began operating out of Davis' Squirrel Hill home. It now has a staff of 75, and a $4 million budget. The organization has placed approximately 3,000 children in foster or adoptive care.
Deciding whether to abort a child or put it up for adoption is never easy. "Value on normalcy starts right at the hospital," Davis says, as staffers may question parents of children with birth defects: "Do you want the effort of raising this child?"
For some, the question will be prompted by a doctor who may suggest that the infant is too disabled to feasibly care for, Davis says, adding that it is not uncommon for parents to be asked whether they want to file a DNR: Do Not Resuscitate.
Sometimes, the parents fret over quality-of-life issues: the likelihood that a child will never be able to, say, attend his or her own prom. For others, the decisive element is cost: "How much will it cost to keep the child alive?" Not every family has a flexible job, or more than one income. "Some of the children can't go home with the family because they don't have the resources," Davis says.
In a 2006 report titled "Assuring Family Life for Children with Complex Health Care Needs," Every Child Inc. suggests both that society has come a long way in seeing the value of disabled children -- and that work remains to be done.
Summarizing previous findings, the report says that in early scientific studies, "The child with a disability was seen as the source of marital disharmony and family stress. Parental responses were interpreted through a grief model to include guilt, anger, denial and the chronic sorrow of loss. Much of the parental-reaction literature did not address variables such as level of support, medical professional attitudes, or availability of social networks."
Later research, the report notes, found families whose responses ranged "from floundering to thriving." But much depended on the family's broader social context -- the resources and social services at its disposal. According to research compiled by the report, having a disabled child presented a family with a series of social challenges: "(1) social impact (e.g., housebound by care demands, isolation, exhaustion, loss of privacy); (2) emotional impact (e.g., fear, anxiety, financial stress); (3) financial impact (e.g., inadequate funding, reduced or lost employment, uncovered medical costs); and (4) service usage impact (e.g., constant need to fight for services, inadequate services, lack of information about services, time-consuming coordination)."
Davis says that adoption and foster care can help break out of a cycle of financial need, and reaffirm the value of every child. Still, even successful placements can be painful. Davis tells the story of a call she received years ago from a child-welfare agency: A disabled child had been abandoned on the campus of a local community college, and after being taken to a hospital, it quickly became obvious that the infant did not have all of his brain matter. "He was profoundly mentally retarded," Davis said. "We did not know what he could see, what he could hear." At one point, a DNR was placed on the baby, but Davis found a foster parent to care for him. The child lived until the age of 4.
For Planned Parenthood's Fricke, the bottom line is choice. If a woman wants to have an abortion, she should not have to contend with those who say her only option is putting the child up for adoption. Given the lack of resources provided to women -- and the challenges of raising a child with special needs in particular -- such a position "seems fairly disingenuous to me," she says.
Pre-natal screening is doing nothing more than giving parents the tools to make better choices, Fricke says: "From partner selection, to genetic selection, to good-old-fashioned adoption, parents have an unprecedented ability to make decisions about their offspring."
Davis herself says she would not have a child that would only live for a few days. But she worries that Americans also need to overcome their tendency to marginalize the disabled -- and their undue emphasis on accomplishments, looks and wealth.
Putting parents in the position of choosing who is normal places the responsibility on the child, not on society. And placing children in adoptive services, she says, can help break out of that cycle. "There is this thing in society called devaluing," she says.
Because of her misleading ultrasound test, Amy Rounds didn't face the same sort of decision that other parents of children with Down contend with. And while Olivia's birth defect was a terrible shock, Rounds says that not knowing her daughter had Down syndrome at least spared her a difficult choice.
"My husband ... summed it up best: 'Amy, if you had known, and aborted her, you would be in a worse state of mind than you are now. I don't think you could have lived with yourself and the guilt of your decision.'"
And it's not a choice she wants to face again: Six months after Olivia's birth, Rounds decided to have a tubal ligation to preclude another pregnancy. Previously, she and her husband had wavered about having the procedure. But now but she knew that she had a 1 in 100 chance of having another child with Down syndrome.
"It came down to the abortion issue," she says. "If we knew we were carrying another child with DS," she and her husband wondered, "would we abort?"
"The answer was, 'No, so let's not even go down that road.'"