ST.
LOUIS — A new blood test for pregnant women that can
reliably detect Down syndrome in a fetus has raised concerns
about the ethical implications of making that information
safer and easier to obtain.
The test
is more accurate than the blood and ultrasound screenings
currently used to gauge the chance that a baby will be born
with the syndrome. And it’s safer than invasive tests of the
amniotic fluid that carry a small risk of miscarriage.
But
families and advocates worry that if the blood test becomes
widely used, fewer children with Down syndrome will be born.
Studies have shown as many as nine out of 10 pregnancies with
a Down syndrome diagnosis end in abortion.
The new
blood test, MaterniT21 from the California company Sequenom,
checks the fetal DNA present in the mother’s blood for the
extra copy of the 21st chromosome that causes the most common
form of Down syndrome.
It can
be administered as early as 10 weeks into the pregnancy with
99 percent accuracy.
So far,
the test has been studied in women at higher risk of
delivering a baby with Down syndrome — mothers whose initial
screenings were abnormal, who have a family history or are
older than 35. About 750,000 pregnancies a year fall into that
category, the company estimates.
The
blood test is expected to further reduce the number of women
who undergo amniocentesis to confirm a Down syndrome
diagnosis. Most women already decide against the invasive
test, which requires the extraction of amniotic fluid from the
uterus, in part because of an estimated 1 in 500 chance of
miscarriage.
"Women
who are not really interested in invasive testing, many of
them would want to go for this (new) test," said Dr.
Anthony Odibo, who specializes in fetal care at Washington
University in St. Louis. "For many of them it’s really
for preparation. Especially here in the Midwest, just knowing
does not mean you’re going to terminate."
The
blood test is available in 20 cities including St. Louis and
is expected to cost up to $235 out of pocket for women with
insurance. Results can be expected in eight to 10 days. Unlike
amniocentesis, the test does not screen for other fetal
abnormalities including spina bifida and more rare forms of
Down syndrome.
Company
executives said they don’t expect the test to have a
significant impact on the birth rate for babies with Down
syndrome.
"All
that this test does is to provide a safer alternative to the
information that is already available to a woman" Dr.
Mathias Ehrlich, senior director of research and development
at Sequenom. "They can take that information with their
doctor into consideration, to make appropriate decisions for
their family."
About 1
in 691 babies is born with Down syndrome, which is marked by
mild to moderate intellectual disabilities, developmental
delays and distinctive facial features. Half of the babies
also have heart defects that usually require surgery. Children
and adults can experience vision, hearing and speech
impairments, thyroid problems and respiratory difficulties.
People with Down syndrome can expect to live into their 50s,
doctors said.
It’s
estimated that 400,000 Americans have Down syndrome. Early
intervention and therapy has improved their health and
opportunities to attend mainstream classrooms, work and live
independently, advocates say.
Families
of children with Down syndrome said they fear that widespread
use of the new test will lead to more abortions, creating a
smaller community with fewer resources.
Most
families enrolled in the Down Syndrome Center at St. Louis
Children’s Hospital did not receive a prenatal diagnosis,
said Niki Armstrong, a genetic counselor at the center.
"A
big proportion are not interested in prenatal testing because
it would not affect pregnancy outcomes" Armstrong said.
"I think that’s a very reasonable option."
The
results of the test should be accompanied by educational
information and referrals to support groups so parents can
make informed decisions, said Christy Klaus, family support
coordinator for the Down Syndrome Association of Greater St.
Louis.
Klaus
added that more than 250 U.S. and Canadian families are on a
waiting list at the National Down Syndrome Adoption Network.
The
grief parents feel after receiving a diagnosis is
understandable, said Trey and Darla Lawrence, whose
18-month-old son Dawson has Down syndrome.
The
Lawrences, who live in Imperial, Mo., said their initial
reaction of fear and panic lasted about a week after they
found out fairly early into the pregnancy.
"By
the time he was born it was all joy" Darla Lawrence said
over lunch at a cafe where Dawson charmed strangers by blowing
kisses. "It would be devastating if we didn’t have
children like Dawson."
Expectant
parents facing a decision about their pregnancy should also
hear the personal, and not just clinical side of the story,
Lawrence said.
"They’re
the lucky ones. I know most people can’t fathom that,"
she said. "They will have a love and a presence of joy in
their house that just can’t be matched by typical
people."
In a
survey of more than 2,000 parents of children with Down
syndrome, 99 percent said they loved their child and 4 percent
regretted having the child, according to results published
last month in the American Journal of Medical Genetics.
Parents
of children with Down syndrome were careful not to depict an
overly sunny experience. There are medical, social and
educational challenges that require extra time and money.
But
people should know there are more similarities than
differences among all children, said Linda Kronmiller,
education coordinator for the local Down Syndrome Association.
"He’s
just like every other human being with a range of
emotions," Kronmiller said, speaking of her 14-year-old
son Eric. "If you saw him walking through the school, you
wouldn’t notice."