A SPECIAL REPORT
Etched in the memories of Dennis
and Melinda Stover is the day they learned their
baby would be born with spina bifida.
It was January, and Melinda, a
26-year-old-bank teller from Murfreesboro, Tenn.,
was 20 weeks pregnant. She was having an ultrasound
exam because they already had two girls ``and if it
were a boy, we had a lot of stuff to buy,'' said
Dennis, a 31-year old surgeon's assistant. No matter
what the exam might show, abortion was unthinkable:
``We're born-again Christians.''
What it did show was that their
fetus had spina bifida, a defect in which the spinal
canal fails to close around the spinal cord. (Spina
bifida affects 1 in 2,000 newborns and can often be
prevented by taking folic acid -- found in
multivitamins and some fruits and cereals -- from
the onset of pregancy.)
Many children with spina bifida
have such severe neurological damage that they need
braces to walk and have problems with bladder and
bowel function. Most also develop hydrocephalus, or
excess fluid in the brain, which requires repeated
operations to implant shunts to drain fluid into the
abdomen.
Beyond the enormous human cost,
the economic cost of caring for such a child is
``astronomical,'' notes Dr. Arnold Cohen, a former
perinatologist who is now corporate medical director
for women's health at Aetna US Healthcare in Blue
Bell, Pa.
So the Stovers decided to take an
unusual chance. They live just half an hour from
Vanderbilt University Medical Center in Nashville,
where over the last two years Dr. Joseph P. Bruner,
director of fetal diagnosis and therapy, has done 53
experimental operations on fetuses to correct spina
bifida.
This kind of dramatic surgery is
so new and requires such specialized surgical teams
it is done only at Vanderbilt and two other centers
-- Children's Hospital of Philadelphia and the
University of California at San Francisco -- though
others are gearing up to do it. It also raises a
number of medical, ethical, and insurance issues,
partly because there are no long-term data.
The operation Melinda Stover had
at 23 weeks of pregnancy is conceptually simple.
Through a Caesarean section, the uterus is pulled up
and placed on the woman's abdomen. A tiny incision
is made in the uterus, so the amniotic fluid that
bathes the fetus can be withdrawn through a needle
and stored in the operating room to be put back
later.
The uterus is then cut open and
the fetus exposed so doctors can close the gap over
the spinal cord. By closing the gap before birth,
doctors reason, the spinal cord can be protected
from physical trauma as the fetus bumps around in
the uterus and from toxic compounds in the amniotic
fluid. Closing the gap before birth also appears to
reduce the risk of hydrocephalus.
Although the Stovers' daughter,
Meghan, was born with club feet and no muscle
function below her knees, her bowel and urinary
functions are intact and the family has no regrets
about the surgery. In fact, they're ``thrilled to
death'' with Meghan, who was born in April. ``We
could not be happier,'' Dennis Stover says.
Cohen of Aetna calls this type of
surgery nothing short of ``miraculous.'' While many
insurers -- including the Stovers' -- balk, Cohen
was so awestruck after watching an operation, he
convinced Aetna to contract with Vanderbilt to pay
for patients to have the procedure, which costs
about $35,000.
``It intuitively makes sense'' as
a way of reducing the need for repeat operations and
expensive long-term care, he said.
Though a few doctors experimented
with fetal surgery in the 1960s, it was not until
the early 1980s that, after numerous experiments in
animals, Dr. Michael Harrison, director of the fetal
treatment center at UCSF, began operating on fetuses
with life-threatening tumors that inhibit lung
growth and others that grow at the base of the
spine, sapping the fetus' blood supply.
Back then, ``it only seemed
justifiable'' to attempt fetal surgery for such
potentially fatal problems, says Dr. N. Scott
Adzick, director of the center for fetal diagnosis
and treatment at Children's Hospital of
Philadelphia.
In fact, nobody would have
considered exposing the mother and fetus to the
rigors of surgery for a non-fatal problem like spina
bifida for the very reason that the gap over the
spinal cord can be closed and a shunt can be
implanted to treat hydrocephalus after birth.
And the risks of fetal surgery to
both mother and fetus are considerable, including
the chance that in the weeks afterwards, the uterus
can contract so much the baby will be premature or
even stillborn. To prevent this, mothers are now
given drugs such as magnesium and terbutaline until
it's time -- at about 34 weeks of pregnancy -- to
deliver the baby by another C-section.
(C-sections are necessary because
fetal surgery creates a fresh uterine wound; with
vigorous contractions during labor, that wound could
rip, jeopardizing both mother and fetus.)
By the mid-1990s, Bruner decided
it was time to try fetal surgery on fetuses with
non-lethal malformations. He operated on four
fetuses with spina bifida.
``It was an unmitigated
disaster,'' he says. His team worked endoscopically
-- not through a big incision in the woman's abdomen
as he does now, but through tiny incisions through
which instruments and a TV camera were inserted.
Although surgeons now use endoscopic fetal surgery
for other malformations, Bruner's tiny spina bifida
patients did not fare well with this approach; two
died and two were born prematurely.
So Bruner switched to the open
procedure, and the results, he says, are
encouraging, though he concedes it's not yet clear
whether the surgery increases the chance that a
child with spina bifida will walk.
But while most babies born with
spina bifida eventually need shunts for
hydrocephalus, only half of those who get the fetal
surgery do, perhaps because, by repairing the spinal
lesion, fluid does not build up as much in the
brain.
The Vanderbilt team was so eager
-- many say over-eager -- to spread the word, it put
its findings on the Internet in mid-1997 and later
helped publicize them in the magazine Woman's Day
and on Dateline NBC. The study results were then
submitted to the New England Journal of Medicine,
but the journal declined to publish them. (The data
remain unpublished, but have been submitted to
another journal.)
Dr. Michael Greene , director of
maternal and fetal medicine at Massachusetts General
Hospital and the editor who reviewed the paper, says
Bruner's paper was rejected because it dealt only
with the first 10 or so successful cases and made no
mention of subsequent ones, where the operation
``went sour.''
Bruner's enthusiastic
self-promotion also irked his rivals, especially
Adzick of Philadelphia, who notes that his team has
performed about half of the 250 to 300 open fetal
surgeries done worldwide and whose own work on one
case was published in Lancet, a British medical
journal. (Both men say they've now patched things up
and refer patients to each other.)
And while, understandably, some
parents of children with spina bifida complain on
Vanderbilt's website that the surgery was not
available to help them, those who have had it are
immensely grateful.
Patricia Switzer, 34, a computer
scientist, and her husband, Michael, 35, an Army
test pilot stationed at Fort Rucker, Ala.,
discovered when she was 21 weeks pregnant that their
fetus had spina bifida. She had the surgery three
weeks later.
Though they're still fighting with
their insurer to pay for the procedure -- and the
$300-a-day drugs she needs to prevent premature
delivery -- the Switzers are glad they took the
risks. ``I would do anything for my baby,'' Patricia
says.
As for the Stovers, their insurer
did not cover the surgery, but their church raised
$11,000 for them, and they'd do it all again if they
had to.
``We aren't striving for a perfect
baby,'' Dennis Stover says. ``We just want to do
what's best. . .I feel we are pioneers, but someone
has to be. Someone has to say, `I am willing to do
this not just for my baby, but for the rest of
babies.'
Judy Foreman is a member of the
Globe staff. Her e-mail address is: foreman(AT SIGN
SYMBOL)globe.com.
Previous ``Health Sense'' columns
are available through the Globe Online searchable
archives at
http://www.boston.com. Use the keyword
columnists and then click on Judy Foreman's name.
SIDEBAR:
'Closed' procedures
are the future
Although ``open'' fetal surgery is
dramatic, doctors are increasingly turning toward
``closed'' or minimally invasive procedures in which
thin instruments and a small TV camera are inserted
through tiny incisions; sometimes they use
ultrasound to guide needles to insert shunts.
At New England Medical Center,
Wendy Andrasy, 33, a Weymouth police officer, has
already reaped the benefits of this approach.
When she was pregnant two and a
half years ago, her fetus had an enlarged bladder, a
sign that something was obstructing the flow of
fetal urine into the amniotic fluid. This can cause
kidney damage as urine backs up; it can also
sabotage lung development.
Fetal urine contains a growth
factor that is ``essential for lung development,''
says Dr. Diana Bianchi, chief of genetics at the
Floating Hospital for Children at New England
Medical Center. Normally, the fetus ``is inhaling
its urine and that is allowing this growth factor to
get to the lungs.''
But Andrasy's fetus wasn't getting
that growth factor. So when she was 20 weeks
pregnant, Dr. Sabrina Craigo, a perinatologist at
NEMC, slipped a tube through Andrasy's uterus, using
ultrasound guidance, and placed a drainage shunt
with one end in the fetal bladder and the other in
the amniotic sac.
At the University of California in
San Francisco, Dr. Michael Harrison, director of the
fetal treatment center and the undisputed leader in
fetal surgery, is pushing the envelope even further.
Harrison notes that 1 in 2,000
babies is born with a diaphragmatic hernia, a hole
in the diaphragm that allows the intestines and
sometimes the liver to poke up into the chest
cavity. When this happens, the lungs get so
compressed they never develop, which means that as
soon as the baby is born, it dies.
The solution is counterintuitive:
occlude the fetal windpipe. Fetal lungs make fluid
that pours into the airway and out of the mouth; by
blocking this outflow, the fluid, which spurs lung
growth, is pumped back into the lungs.
Harrison's team has perfected a
way to close the fetal windpipe endoscopically with
a clip that is placed on the fetal trachea during
surgery and left there for the remainder of the
pregnancy. It is then removed during delivery by
C-section so the baby can breathe normally. The
results on the first dozen patients, not yet
published, suggest that it works much of the time,
he says. At Children's Hospital in Boston, Dr. Rusty
Jennings , director of fetal diagnosis and
treatment, is gearing up to do the trachea
procedure, as well surgery for spina bifida and
other problems.
At a number of hospitals
nationwide, including New England Medical Center and
Hasbro Children's Hospital in Providence, doctors
are working on ways to use endoscopes and lasers to
treat yet another fetal abnormality, the mixing of
blood between identical twins whose blood vessels
join in the placenta. When this happens, says Dr.
Francois Luks, associate professor of surgery and
pediatrics at Brown University, one twin's heart
tries to pump blood for both, causing heart failure;
the other twin often dies from anemia because it
gets too little blood.
As for Andrasy, her son was born
two years ago. The surgery prevented the child's
death from underdeveloped lungs, but was not able to
prevent kidney damage -- in fact, he needs a kidney
transplant. But Andrasy, now pregnant again, was
thrilled: ``He's wonderful. They saved his life.
He's funny. He's a great kid. He smiles all the
time.''