Dorian Gray has aged into a happy 5-year-old boy, but he still doesn’t speak much. When his mother, Rosalinda Gray, asks him questions, he squeaks out a “yes” or a “no” before returning to his toy cars. If the question is about food, he breaks out an ear-to-ear grin, exaggerating the wide face and slightly slanted eyes that distinguish many children with Down syndrome.
The Woodland woman has never thought twice about giving birth to Dorian, she said, even after a prenatal genetic test revealed a high risk for Down syndrome – a diagnosis associated with physical and cognitive delays that might cause some parents to terminate a pregnancy. As technology evolves and prenatal tests become available for more conditions, she and other parents wonder if more families will hold back on raising disabled children such as Dorian, and what that means for society at large.
“A lot of parents who have the testing done and have never been around a child with any special needs, they are truly scared because they don’t know if it’ll be a complete life change, and there are parents who say, ‘OK, it is what it is and I’ll help,’ ” Gray said. “When Dorian was born, I totally immersed my life into, ‘How can I help, how can I make him stronger?’ … I would have never thought I would be here, but he’s changed us all.”
California is one of only a few states that offer publicly subsidized prenatal screening, which uses a biomarker test to estimate risks for Down, Edward and Smith-Lemli-Opitz syndromes, as well as neural tube defects such as spina bifida and anencephaly at as early as 10 weeks into pregnancy. Physicians are required to give prospective parents the option to screen, and about 75 percent of women do so each year, according to a 2011 California Department of Public Health report.
About five years ago, if parents wanted more specific information after the biomarker test, doctors had to remove placental tissue or amniotic fluid from the womb. Recently, geneticists learned how to acquire fetal DNA by drawing the mother’s blood – a more accessible and affordable strategy. More targeted tests are available for couples who already know they carry genes for a specific condition, such as cystic fibrosis or deafness. Couples conceiving through in vitro fertilization can learn the risks for those conditions even before an embryo is implanted.
“We are moving in the direction of being able to prenatally diagnose, if parents wanted to, the vast majority of genetic conditions,” said Holly Tabor, a bioethicist at Stanford University. “A lot of people worry about the ‘Brave New World’ scenario, in which we can do testing for all sorts of traits and milder cases of illness and disability, and that’s much more controversial. For the most part, that’s a futuristic scenario.
“That said, there’s a danger, in a society with a lot of stigma and bias toward people with disabilities, that we can move, even unintentionally, towards using prenatal testing in ways that increase that stigma.”
Prenatal screening has come under fire from disability rights activists and abortion opponents who feel the test results could encourage more women to terminate their pregnancies after receiving a negative diagnosis. Roughly 85 percent of women with a prenatal Down syndrome diagnosis choose to terminate, according to the Hastings Center, a nonpartisan bioethics research institute in New York. The termination rates for neural tube defects vary from less than 20 percent for Hispanic women to more than 90 percent for all women in the first trimester of pregnancy.
“I see the spectrum of ‘we would never terminate’ to ‘we definitely would terminate,’ but the majority of people are ‘I don’t know, it depends,’ ” said Dr. Veronique Taché, assistant clinical professor of maternal-fetal medicine at UC Davis Medical Center. “It plays into their belief system, their family structure, their financial situation. If their child will be wheelchair bound and incontinent, do they have the means to take care of those needs?”
In California, women can abort a fetus for any reason until it becomes viable – usually at about 24 weeks into the pregnancy – or later to preserve the life or health of the woman. In North Dakota, doctors are not allowed to perform abortions if a woman is seeking to terminate “because the unborn child has been diagnosed with either a genetic abnormality or a potential for a genetic abnormality.” Seven states ban abortions that are based on the sex of the fetus.
Early genetic results can sometimes sway prospective parents to end a pregnancy, Taché said. But they also help families prepare for certain conditions, or convince them to give birth at a hospital with a neonatal intensive care unit, if necessary. When neural tube defects are discovered, UC Davis surgeons can perform in-utero surgery to repair the often-fatal condition while a woman is pregnant. The hospital’s fetal treatment center has performed four fetal surgeries since it launched last year.
“I have to be mindful when I bring up termination, because some people get really angry,” Taché said. “But it is part of my job to give people all of their options. … Medicine has advanced to the point where we can help.”
Gray said she opted not to get any further diagnostic tests after her blood test and ultrasound suggested a 75 percent chance of Down syndrome. She had worked with children with disabilities at the Yolo Crisis Nursery before becoming pregnant with Dorian.
She said she stood by her decision even as doctors prepared her for the worst.
“We were told that he wouldn’t walk, that he probably won’t talk, that he won’t have a lot quality of life – a lot of negatives,” Gray said. “If I did not have the background that I had, and I was told things the way I was told things, I can understand why people would be so scared. When you’re told your child could live a horrible life, of course you’re going to be scared. And you wonder, do they have a point? Should I have my child?”
In general, physicians are not well trained to deliver possible diagnoses to prospective parents, Tabor said. As technology becomes more refined, the challenge will be to ensure equal access to prenatal testing and provide resources to help families interpret the information they’re receiving.
“You can’t treat all genetic conditions you might find out about prenatally the same,” she said. “They have very different outcomes, very different risks and harms, a wide range of quality of life. It’s impossible to have a one-size-fits-all view on whether this information is good or bad for any one condition or family. That makes it hard to talk about, which makes it hard to create policy around.”
Prudence Marsh of Sacramento said she relied on prenatal testing to guide her most recent pregnancy. Her first two children, born in 2010 and 2012, both died shortly after birth, and Marsh worried whether the cause was a mysterious genetic glitch or if she had done something wrong.
When she became pregnant later, she needed to know if the next child would suffer the same fate.
Taché took a fetal sample from Marsh to test specifically for lipoyltransferase 1, which researchers had pinpointed as the cause of her children’s deaths. They determined that Marsh’s daughter Sadie, now 2, was not a carrier.
“The first thing that came into my mind, not a decision, but a thought, was that I couldn’t do it,” Marsh said. “If I didn’t have the answer, I couldn’t go through nine months of the same seemingly healthy pregnancies and I couldn’t handle losing another baby. I just thought it would ruin me.”
For Gray, knowing early about Dorian’s condition pushed her to research Down syndrome in advance, and prepared her for the heart surgery he would need at 7 months old. Dorian now attends a school for typically functioning children and plays tee-ball, she said.
Gray has become the president of the Down Syndrome Information Alliance in Sacramento, where she and other parents brief couples receiving prenatal Down syndrome diagnoses about what the information might mean for their future.
“Dorian is incredible and he works hard every day,” Gray said. “Parents who choose (to terminate) may later on feel angry with their choice, because they weren’t given the chance to learn that it isn’t a horrible, end-of-life diagnosis.”