Down Syndrome Births Are Down in U.S.

Women end pregnancies, some out of fear and ignorance about Down syndrome.

October 30, 2009, 5:23 PM

Nov. 2, 2009— -- After prenatal testing, Boston filmmaker Melanie McLaughlin faced the likelihood that her 12-week-old fetus had Down syndrome, or a heart defect.

She prayed for the heart defect.

Grace, now 2, was born with both: trisomy 21, or Down syndrome, and holes in all four chambers of her heart, which were repaired shortly after birth.

"I fell in love with her and handed her over to the doctor for surgery not knowing if I would get her back," McLaughlin said. "I was swearing to the powers to be that I didn't mean it, I was OK with the Down syndrome."

McLaughlin said she realized what a "horrible wish" she had made for her child.

"I was so naive, with no experience with anyone with Down syndrome," she said. "I got a huge education about that later."

"An estimated 92 percent of all women who receive a prenatal diagnosisof Down syndrome choose to terminate their pregnancies, according toresearch reviewed by Dr. Brian Skotko, a pediatric geneticist atChildren's Hospital Boston.

Birthing trends worldwide show that women are waiting longer to have children and advanced maternal age is associated with increased risk of having a child with Down syndrome.

The number of Down Syndrome cases is declining enough in the United States to raise concerns that research funding to study the congenital condition will dry up. There's also worry that more people will deny themselves what some call the "gift" of raising children with Down syndrome.

About 400,000 Americans have Down syndrome, the most common genetic condition in the United States, which produces an array of challenges, including retardation, delayed language and slow motor development.

In the absence of prenatal testing, the United States would have experienced a 34 percent increase in the number of Down births between 1989 and 2005, Skotko estimates.

Instead, 15 percent fewer such babies were born during that time, representing a 49 percentage point difference between expected and observed rates, according to Skotko's research.

Down Syndrome Myths Drive Decision

And without knowing what it's like to raise a child with Down syndrome, many women will make their decisions based on misinformation -- and myths -- about the disorder, researchers say.

The genetic diagnosis often comes as a shock, and many people assume that raising a child with Down syndrome will be fraught with heartbreak.

But McLaughlin was lucky to be connected with First Call, a program sponsored by the Massachusetts Down Syndrome Congress, which introduced her to a family with a 5-year-old girl who has the disorder.

"She played hide and seek, and she kept jumping out, telling us where she was hiding," McLaughlin said. "She was amazing. I was thinking she would be sitting in a chair unresponsive and drooling.

"Actually, she was much like our other children," McLaughlin said. "We thought, maybe we can go forward."

McLaughlin said she worried about how the child would affect her siblings and the marriage, and who would look after her when she and her husband died.

But according to a study by Skotko, whose sister has Down syndrome, siblings are patient and compassionate. As for the marriage, some couples do experience stress in raising a disabled child, but many grow closer.

"I am concerned about mothers making that informed decision," he said. "Are they making it on facts and up-to-date information? Research suggests not, and that mothers get inaccurate, incomplete and sometimes offensive information."

One Connecticut mother who terminated her pregnancy two years ago after a Down diagnosis said her doctor "didn't paint the brightest picture."

The news was devastating, said Laurie, a 37-year-old saleswoman who did not want her last named used. "We truly felt that we were falling apart."

She learned she was carrying a child with Down syndrome after having difficulty getting pregnant with her second child, and then a miscarriage. It was the right decision for her family, she said.

"After much soul-searching, we decided to terminate the pregnancy at 14 weeks," Laurie said. "We had a beautiful, healthy baby girl almost a year later. I think about our unborn baby girl quite a lot and only recently was able to get rid of the early ultrasound pictures of her."

And although she had never met a child with Down syndrome, she said, "I don't know if I was a strong enough person to raise a child like that."

Parents Need Support, Feedback

Still, Laurie's daughter, who is now in kindergarten, has met a boy with Down Syndrome in her class. "It's interesting, because she has taken him completely under her wing," she said.

"It's a hard thing to talk about," Laurie said of the abortion. "It's not one of my proudest moments."

With little information at the time and a "doom and gloom" attitude, she admitted, "I had to make a decision very quickly. Had I been able to talk to someone, it could have given me a better rounded perspective."

Like Laurie, Gail Udell of Eugene, Ore., said she, too, was swept up in fear when she learned her daughter had Down syndrome the same weekend as her first wedding anniversary.

At 38, she assumed she would have a healthy baby, but when an ultrasound and blood test revealed a high likelihood of both Down syndrome and a heart defect, "the day we looked forward to was crashing around us."

She and her husband were given scant support and left alone to make their decision about undergoing more conclusive testing.

"The atmosphere in the room that day was very grim, and [there was] a sense of urgency," she said.

The heart defect didn't scare them as much as the Down diagnosis.

"We had no experience with that outside of Corky from 'Life Goes On' and the bagger at the grocery store," she said of the first television series to have a major character with Down syndrome. "We were very terrified of Down syndrome."

But now at 6, daughter Teagan is thriving in first grade and loves songs, books and horse riding, despite a language delay.

"I am a better person and a better parent," she said. "We have a ways to go yet, but like everything else, she'll get there. She is determined, fearless and happy."

Still, Udell wishes she had been given more support and positive feedback in the beginning, the kind of parental support that helped Melanie McLaughlin.

"Parents are full of questions, fear of the unknown and feeling alone," said Sarah Cullen, family support director for First Call, which takes no position on whether to terminate pregnancies.

"The most important things you can provide are accurate, up-to-date information, and what it's like to parent a kid with Down syndrome, just to have someone who walks in those same steps to listen and share their own story," Cullen said.

Nina Fuller of Newburgh, Ind., knew nothing about parenting a child with Down syndrome when she received her diagnosis.

"I presumed she would not be able to communicate, to read, to interact with the rest of our family or with the world around her," she told "I was afraid that she would intrude on the lives of her three brothers, and that our family would be home-bound and our lives as we had planned would be thrown into turmoil."

Those fears never materialized. The Fullers went on to adopt another daughter with Down syndrome, Hope.

Dr. Lewis Holmes, head of the genetics unit at MassGeneral Hospital for Children in Boston, said about 80 percent of women who learn before 24 weeks that they are carrying a child with Down syndrome choose to end the pregnancy.

Parents Decline Screening for Down Syndrome

He provides parents with resources to help them make the decision, including a call from another family who is raising a child with Down syndrome.

"Some women have an immediate response and know what they want to do; the mother and father are totally in sync, and all set to go," he said. "But more often than not, there's a lot of soul-searching, and we try to make sure they hear both sides of the story."

But Holmes is seeing an increasing number of women who simply do not want to be screened.

"They say thanks, but no thanks," he said.

Many families who were anxious upon diagnosis say their lives have been enriched by deciding to continue the pregnancy.

Such was the case with Lisa Aguilar of Hemet, Calif., whose 7-year-old son has Down syndrome.

"I decided to keep him, no matter what," said Aguilar, a 43-year-old who is pregnant with her fourth child. "He is the happiest, kindest soul I have ever met. Daniel has taught me some valuable lessons about acceptance and love and being more compassionate."

Studies have shown that families do cope and siblings learn important lessons in patience and empathy for others.

Since the birth of Grace, McLaughlin has been inspired to work as a First Call volunteer and help other parents facing a Down diagnosis.

"It was my lifeline to hope," she said. "These were not horrible stories of what they endured, but really wonderful, enlightening stories, so different from the information that is out there.

"I love Grace and her Down syndrome and everything about her," she said. "I prided ourselves on our intellect. I had a boy and a girl and a handsome husband who is a hard worker. All that outward stuff I thought was important, but I don't find it so important today -- more that is a gift."

And while she supports women's right to choose, she worries about the dwindling number of children with Down.

"I do feel women have their own choice, but they don't realize what they have given up," she said. "What if we don't like brown eyes anymore? What have we lost and what does Down syndrome bring to society that we lose along the way?"

For more information, go to the National Down Syndrome Society.