The risks of testing

[Guest guest]

The risks of

testing

By SARAH LARSON

The Intelligencer

Drenth

is 2, loves Goldfish crackers and can sign more than 30 words, including

�cry� when she hears a baby wail.

Roman Santoro,

also 2, likes to play in the dirt, loves �Shrek� and enjoys pulling things

out of drawers.

They both have

an extra 21st chromosome.

To most of the

world, that's called Down syndrome. To their mothers, h Drenth and

Santoro, both of Nockamixon, they are just kids.

�Other people

might look at him and see a condition,� Santoro said of Roman. �But on any

given day, he is a tyrant, a clown and a snuggle bunny, just like any other 2

1/2-year-old.�

Drenth and

Santoro worry that more kids like and Roman will never be born, if

earlier prenatal tests lead to more abortions of fetuses believed to have Down

syndrome.

Doctors can now

identify, early in pregnancy, whether an unborn baby has a greater chance of

having Down syndrome, and that test may soon be routine. The American Academy

of Obstetricians and Gynecologists now recommends all pregnant women be

screened for Down, not just those at higher risk because of age or family

history.

Advocates say

the tests will give expectant couples more information so they can choose to

terminate the pregnancy earlier when it is safer and more private or so they

may start preparing to raise a child with some level of disability.

Though more

accurate than previous screens, the noninvasive test can only determine a

greater risk for Down, not whether the baby does or does not have it.

The underlying

issue, though, isn't the test � it's what happens with the test results.

When told their

babies have a higher chance of having Down, nine out of 10 pregnant women

terminate the pregnancy, national studies have estimated.

Santoro, Drenth

and parents like them nationwide think that's because the women are presented

with few options. They want doctors and genetic counselors to offer parents not

just information on abortion but positive information on Down syndrome and

local support groups.

Here in Bucks

County, they're having some success.

Drenth says some

OB-GYNs are passing on the contact information for the group she and Santoro

now lead, the Bucks County Down Syndrome Interest Group, which meets monthly in

Doylestown.

Drenth, who

opposes abortion in general, and Santoro, who says she is for abortion rights,

say that's all they want.

�I can't put

my beliefs on anybody else. All I want is for people to be given other

information,� Drenth said. �If all you're being told is that having a child

with Down syndrome is awful, and most women in your situation abort, and if you

don't know anything about Down syndrome yourself, you're scared, and you have

nothing else to go on. We just want to give them another view.�

Sens.

Kennedy, a Democrat who supports abortion rights, and Sam Brownback, an

anti-abortion Republican, have teamed up on a bill that would require doctors

to offer more thorough medical information about Down and referrals to support

networks.

Though that bill

specifically addresses Down syndrome, the overall issue raises questions about

the ethics of terminating not a pregnancy, but a specific pregnancy in which

the child is deemed genetically inferior.

As such, its

significance reaches beyond Down syndrome, said Dr. Art Caplan, head of the

Center for Bioethics at the University of Pennsylvania.

�It's clear

that genetic testing is going to expand past detecting terminal illnesses to

detecting imperfections and minor problems,� said Caplan, whose work often

focuses on genetics and reproductive technologies.

�It's one

thing to say, " I don't want a pregnancy.' It's another to say, " I

don't want to have a baby with Tay Sachs disease, which is going to kill him

anyway,' versus, " I don't want a baby with Down,' versus, " I don't

want a baby who's blind,' versus, " I don't want a baby that's gay.' Every

one of those could, and eventually will, be a part of genetic testing. In that

sense, this debate isn't about Down testing, it's about how to handle genetic

information about the fetus.�

Some advocates

worry that expanding first-trimester Down syndrome screening to all women will

lead to more abortions, greatly decreasing the thousands of children with Down

syndrome now born each year in the United States.

Supporters of

the screening say not all women and their partners want to or are able to raise

a disabled child.

�They don't

have the resources, don't have the emotional stamina, don't have the family

support,� Dr. Deborah Driscoll told the New York Times last year. She is head

of the obstetrics department at the University of Pennsylvania and was one of

the lead authors of the recommendation for expanded screening. �We are recommending

this testing be offered so that parents have a choice.�

Most Americans

seem to agree. About seven out of 10 people believe a woman should be able to

choose abortion if there is a strong chance of a serious defect in the baby,

according to a 2006 poll.

But what is a

�serious defect,� and who defines it? The answer may be different for each

person and that complicates the discussion, Caplan said.

People with Down

may have skill levels below those considered normal, he said, but the condition

is not a death sentence.

�Unlike

testing for neural tube defects, where they are born with most of their brain

missing, this condition itself isn't as much of a burden,� he said. �That

makes it contentious, because you're arguing about quality of life, rather than

a horrifically painful condition that would be difficult to endure.�

For parents and

others who love someone with Down syndrome, the issue is also about what the

world will look like a generation from now, with far fewer people with Down

syndrome living.

�I feel very

sad for anyone who would terminate because of a prenatal diagnosis,� said

Santoro, a graphic designer turned stay-at-home mom. �I cannot imagine my

life without him.�

It wasn't like

that at first.

When she

answered the phone a week after Roman's birth and the doctor told her, �We're

99 percent sure your baby has Trisomy 21. Do you have any questions?� a

stunned Santoro could do little but stammer.

Santoro pulled

herself together and started learning about Down syndrome. She and husband Joe

got hooked up with the resources they would need for their firstborn son.

At 5 weeks,

Roman started working with a physical therapist. Today, he can run, jump and

play like any other kid his age.

So can ,

even though the heart defects that often come with Down syndrome required

surgery when she was 9 days old and again when she was 6 months old. She's now

monitored by a cardiologist.

Their progress

would once be thought remarkable.

Decades ago,

parents delivering babies with what was then called �mongolian idiocy� were

told their children essentially would be vegetables. Most left the hospital

empty-handed, willingly or reluctantly, as the babies were handed over to

institutions. Medical problems such as heart defects were rarely treated, and

most people with Down died young.

When parents

started taking their children home and when children started getting medical

care and physical therapy, things started to change.

Today, a person

with Down syndrome can expect to live to be about 56, up from 25 in 1983,

according to the National Down Syndrome Society.

About 350,000

people in the United States have Down syndrome, said Schleider,

spokeswoman for the society. Most are mildly to moderately impaired, and many

live independently, work and make friends, just like everyone else, Schleider

said.

Though the

society does not take a position on abortion � �recognizing that abortion

is legal in the United States and that our constituents represent diverse

backgrounds and philosophies� � Schleider acknowledged that many in the

Down syndrome community worry about the implications of prenatal testing.

�It definitely

is a concern, and we take an active stance to ensure that the public perception

of Down syndrome has increased, and people know about all the wonderful things

that people with Down are able to accomplish,� Schleider said.

Some parents

groups across the country are doubling their efforts to tell doctors and

expectant parents that having a child with Down may be challenging, but it has

its own joys.

Drenth and

Santoro share that desire, but acknowledge that they are fortunate while others

may not be. Their husbands are totally committed to raising their children, and

they are financially secure enough to be able to stay home with their children.

Their families and friends are supportive, and they also each have just two

children, which allows them to dedicate enough time to therapy for Roman and

while still raising their siblings, Lucas and .

Single women,

young women, poor couples and others may not be so lucky, Caplan said.

�Talk to

someone who has five or six kids, and they may not be able to devote the time

and energy to helping their disabled child,� he said. �It tends to be the

people who are a little more economically and socially advantaged who we hear

from. And we don't hear at all from the people who chose not to have the baby

because there's no " I-didn't-have-that-child-and-I-don't-regret-it' kind

of organization.�

In addition,

some people with Down syndrome are severely disabled, Caplan said, and require

constant care their entire lives.

Such decisions

are also, of course, shaped by belief.

A self-described

�strong� Christian who met her husband, , at their church, Drenth is

opposed to abortion. When pregnant with , she didn't have any screening

tests because, she said, the results would not have changed her mind.

�God gives you

exactly what you're supposed to get, so I have no problem with it. We'll figure

it out,� she recalled saying after being told of her baby girl's diagnosis.

When pregnant

with , though, she did follow the advice of obstetrician Dr.

Dinesen, who recommended a diagnostic ultrasound so he could arrange for a

heart specialist at the birth, if needed.

In the end, it

turned out that the chromosomal miscue that gave Down syndrome was

random. , now 16 months, does not have the condition.

Santoro, on the

other hand, had all the prenatal tests and screens, since she was 36 when she

got pregnant. None indicated any abnormalities, she said.

What would she

have done if they had turned up positive?

�We would have

gotten more information, but that's it. We were having this baby,� said

Santoro, who underwent in vitro fertilization to get pregnant with Roman in the

first place.

She understands

the fear that might lead people facing the specter of a disabled child to

terminate the pregnancy. But the thought of someone aborting a baby because it

might have the same condition as her son makes Santoro squirm.

�Who gets to

decide what gets chosen next to eradicate?�

For more

information on the Bucks County Down Syndrome Interest Group, visit

www.bcdsig.org. The group meets at 7 p.m. on the fourth Thursday of every month

at Children's Village, near Doylestown Hospital.

About

the issue:

Down

syndrome is a genetic disorder caused by an extra chromosome, which

affects development.

It

is the most common chromosomal disorder in the United States, affecting

about 1 in 733 children born each year.

Effects

vary from person to person but can include altered facial features, heart

defects, mild to moderate mental disabilities and more.

When

told their babies have a high risk for Down syndrome, nine out of 10 women

terminate the pregnancy, studies have estimated.

A

doctors group has recommended that a new screening test that can identify

a risk for Down syndrome earlier in pregnancy be offered to all pregnant

women, not just those at higher risk.

The

risk for Down syndrome increases as a woman ages, from one in 1,250 at age

25 to one in 100 at age 40. However, about eight out of 10 babies with

Down syndrome are born to women under age 35 because they have more babies

and receive fewer prenatal screenings.

Down

syndrome takes its name from Langdon Down, the British doctor who

described it in 1866.

In

1959, French pediatrician and geneticist Jrme Lejeune linked the condition

to the chromosomal abnormality when he discovered that his patients with

Down syndrome had an extra copy of chromosome 21.

Larson can be reached at (215) 345-3187

http://www.phillyburbs.com/pb-dyn/news/113-01062008-1466569.html