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Prenatal tests prompt parents to defend Down syndromeNumber of children born with disorder could radically drop with broader prenatal genetic testing

Posted: April 24, 2010 - 12:18am

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, Lucy and Ella Marchese. Courtesy of the family

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By Anne Hart

Molly

and Joe Marchese appreciate the medical advances that have helped

people with Down syndrome live longer, more productive lives.But the Marcheses oppose using medical advances such as prenatal genetic testing to prevent Down syndrome.Molly

and Joe Marchese of Springfield are parents of three beloved and

beautiful daughters, including a 4-year-old with Down syndrome, Ella,

who has enriched their lives in countless ways. " Ella helps me to

see the things around me that I would normally overlook and be too busy

to bother with,'' said Molly, 41. " She truly has showed all of us

what's really important in life.''The Marcheses are among those

families who have become Down syndrome advocates in the face of broader

prenatal testing that could reduce the number of those born with the

genetic condition.New technology is expected within a few years

to allow pregnant women to test safely for Down syndrome as early as

the first trimester, thereby helping prevent the disability.Prenatal

testing for the condition is already happening on a more frequent

basis. In the past, such testing was routinely done on pregnant women

35 and older. Today the American College of Obstetricians and

Gynecologists recommends a new, safer screening procedure to all

pregnant women, regardless of age.A Daily Beast article " A

Future Without Down Syndrome? " asserts that " this particular moment

represents a demographic crossroads for Down syndrome, and that the

number of secular, college-educated families affected by the condition

is about to drop off steeply.''About 90 percent of pregnant

women who are given a prenatal Down syndrome diagnosis choose to have

an abortion, according to the National Institutes of Health.To

expectant couples grappling with the decision of whether to terminate

the pregnancy because of a Down syndrome diagnosis, Joe and Molly

Marchese say " spend one hour with Ella. " " It's not a bad thing that she's different than others,'' Joe said. " Wouldn't it be terrible if we were all the same? " Prevent disability vs. accept diversity

The

Marcheses believe more couples facing a prenatal Down syndrome

diagnosis would decide to continue their pregnancies if they better

appreciated the richness children with the condition bring to their

lives.They, along with other members of the Lowcountry Down

Syndrome Society, share their positive perspectives in a printed packet

for those dealing with a prenatal diagnosis.The support group

members also are asking local obstetricians to invite prospective

parents of Down syndrome babies to their monthly meetings.Molly

recalls a single, expectant mother of one who attended their group

meeting after her unborn child was diagnosed with Down syndrome. " We wanted her to see the blessing that our children are,'' said Molly.After the woman didn't return to following meetings, group members assumed they'd failed to persuade.

But months later, the woman finally walked through the door again, this time carrying her newborn baby.Loving Ella's loveElla

is all about hugs and kisses. Even with strangers. She doesn't go

anywhere in Springfield without being greeted enthusiastically by those

whom lives she's touched.She accepts everyone. A classmate's wheelchair is just something Ella has to climb up to kiss the child, not a limitation.Enrolled

in physical, speech and occupational therapy since she was 3 months

old, Ella is making exceptional progress. She knows her colors and

numbers. She talks in three-word sentences. Knows her ABCs. Sings

songs. And thanks to help from big sis , Ella knows how to jump

and is learning to write.Next school year, Ella will start pre-K

in a mainstream classroom at 's school. , 8, can't wait to

walk her little sister to class.Ella doesn't have the often

severe health problems, including heart defects, associated with Down

syndrome. Health issues were the main concern Molly, an intensive care

unit nurse, had upon learning of the diagnosis.The Marcheses

didn't know Ella had Down syndrome until birth. The Level 2 ultrasound

Molly underwent because she was 36 and considered advanced maternal age

- the biggest known risk factor of the genetic condition - was

inconclusive. Molly didn't have an amniocentesis.Even with a definitive prenatal diagnosis, the Marcheses would not have terminated the pregnancy.Their

initial surprise and worry upon receiving the diagnosis quickly turned

to acceptance. Especially since Molly had suffered three miscarriages

after having and before becoming pregnant with Ella.After

Molly became pregnant with their third daughter, Lucy, many mistakenly

assumed she'd undergo prenatal tests for Down syndrome.Molly did not and Lucy is a healthy 1-year-old today.Molly's response to being asked if she'd have the prenatal tests: " Didn't Ella teach you anything? "

A

sign that Ella has provided more than a lesson in acceptance. She's

also taught her family what it means to love unconditionally. " Ella's made all of us better people,'' said Joe.Contact Anne Hart at anne@...

To learn moreContact the Lowcountry Down Syndrome Society at www.LDSSGA.org or email jmarchese@...http://savannahnow.com/accent/2010-04-24/prenatal-tests-prompt-parents-defend-down-syndrome