When Sheila Quirke woke up that morning, she knew July 18 could
be her best day, a bad day or the absolute worst day of her
The Quirkes were expecting results from two sets of medical
tests that would foretell the fate of their 2-year-old daughter,
Donna, and their unborn son. An MRI would tell if Donna's cancerous
brain tumor was growing back and amniocentesis would predict if the
tiny embryo growing inside Sheila would be born with Down
Who should have prenatal testing?
Source: March of Dimes
"Having the information that the baby was healthy in the womb
helped us cope with our daughter's relapse," says Quirke, 39, a
social worker and city ombudsman for West Ridge.
Quirke and her husband, Jeremy Hornik, had no doubt that, for
them, the advantages of prenatal testing far outweighed the
"Most parents don't confront their worst fear-that something
could be wrong with their baby," Quirke says. "But once you have a
child with cancer, you realize that things can and do go
That doesn't mean it was an easy call. To test or not to test is
a complex equation of morals, medical terms, mom's age and
miscarriage risk factors. Often, it's a life-or-death decision
parents have to make on the guidance of an hour's counseling and a
narrow window of time to make up their minds.
"Time is an issue," says Katherine Kim, a genetic counselor at
Children's Memorial Hospital in Chicago. "There's a very limited
time to consider the options, weigh the risks and decide what
you'll do either way in just a matter of days."
In her role as genetics counselor, Kim is the person who helps
parents sort out the pros and cons of prenatal testing. Among the
overwhelming amount of information she needs to impart to parents
is that they can terminate a pregnancy under 24 weeks in Illinois
and test results can take as long as a month to be processed.
There's little lead time to resolve a long list of issues, local
genetics and prenatal counselors say. What are the risks? How much
do you trust the results? What will you do if you find out there is
a problem? Will knowing the baby may have a disability make it
easier to plan for infant care once it is born?
Questions to consider
Source: Katherine Kim, genetics
counselor at Children's Memorial Hospital
In some cases, the conclusion can boil down to simply doing the
math, finding a bottom line by comparing the risks of birth
complications with the risk of the tests, Kim says. The two most
definitive prenatal tests-amniocentesis and chorionic villus
testing-come with a risk.
In Sheila Quirke's, case, for example, a blood test put her
chance of delivering a baby with Down syndrome at about one in 50.
The risk of the test causing a miscarriage was about 1 in 800 to
If only it were that simple to make a decision.
"Once you have one child with a genetic condition, numbers lose
meaning," Kim says. "Parents just feel either it will happen or it
But lurking among objective factors like figures and fractions
are subjective qualifiers like ethics, family history and even
"It's not just about a medical diagnosis," says Dr. Barbara
Burton, a professor of pediatrics in the division of genetics,
birth defects and metabolism at Children's Memorial Hospital.
Of course, the most grueling choices hinge on whether parents
will continue a pregnancy when tests show the embryo has a health
"If parents feel like they're not going to gain any benefit from
the test, knowing that they're never going to change their decision
to continue the pregnancy anyway, why take the risk that comes with
some tests?" Burton asks.
But there are reasons to assume that risk. Some conditions
considered fatal can be successfully treated with stem cell therapy
in the first weeks of life, Burton says. Knowing about a genetic
condition before birth also gives families time to educate
themselves, gather resources and put a support system in place
before the baby arrives.
For parents who already have one child with a medical problem or
disability, knowing the one they are carrying now is healthy can be
an advantage in promoting a positive pregnancy. That's how it
worked for Quirke.
"Once I found out the baby in my womb was able to take care of
itself, I could use my energy to take care of myself and to take
care of Donna," she says.
Quirke got a lot of unsolicited feedback from friends and family
members about her decision to go for the amniocentesis. Why did she
want to know? What was the point? Was she considering not going
through with the pregnancy if the results weren't good?
"I don't confess to know if the amniocentesis came back positive
for Down's how we would have responded. We didn't touch that
question. We just took it one day at a time," she says. "But I know
that for a lot of couples this is a wrenching decision."
As experts in prenatal testing, both Burton and Kim stress their
job is to educate and get people thinking. No one can tell parents
whether prenatal testing is for them, they say.
"It's an intensely individual and personal decision," Burton
Kim adds: "But there are no right or wrong answers to this kind
Types of genetic prenatal tests
Cannot diagnose a birth defect, but only determine if the fetus
has a high or low risk for a particular problem. One example is a
maternal blood test that identifies pregnancies at increased risk
for open neural tube defects, Down syndrome and trisomy 18.
Can diagnose certain fetal problems with a high degree of
accuracy. Amniocentesis, a prenatal diagnostic test performed on
amniotic fluid, identifies fetal chromosome abnormalities. If, for
example, an extra chromosome 21 is seen, a diagnosis of Down
syndrome is made.
Chorionic villus sampling
What: Used to diagnose chromosome abnormalities, some inherited
disorders and certain birth defects in a fetus.
Who: Mostly for women over 35 or who may have an inherited
genetic problem that can be diagnosed.
How: A thin needle is either inserted through the abdomen or a
specially designed catheter is passed through the vagina and a
piece of placenta, about the size of a few grains of rice, is
Risk: The risk of miscarriage or serious complication is 1/200
What: Used to diagnose fetal chromosome problems such as open
spina bifida, abdominal wall defects and some inherited
Who: Women in their second trimester.
How: A thin needle is inserted through the mother's abdomen into
the amniotic sac and a small amount of amniotic fluid is
Risk: Increases the risk of miscarriage by about 1/200.
Source: March of Dimes
Robyn Monaghan is a mother and long-time journalist.
See more of Robyn's stories here.
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