Robert Wood Johnson Medicine • Spring 2011 • Population Science

further testing such as
amniocentesis that can clarify the risk, and discuss
the risks and the treatments available for children
with the disorder. We try to give a clear picture of
what the future holds for them, but ultimately, the
decision is theirs.”
Dr. Brooks and her team provide screening and
testing for fragile X, Tay-Sachs disease, cystic fibrosis,
and many other genetic disorders. Because a
person can carry a genetic disorder without exhibiting
symptoms, pre-conception screening of both
parents may prevent the conception of a profoundly
disabled or very sick child. When there is a history
of mental retardation in a family, it is important
to test for fragile X, the most common form of
intellectual disability, because women can be carriers
without exhibiting symptoms. While fragile X
causes mental retardation, it may not be diagnosed
in a child until he or she is three or four years old;
by then, other siblings may have been born with the
disorder.
Sometimes, prenatal diagnosis can prepare both
the clinical team and the parents for treatment that
starts before, at, or soon after delivery. For example,
prenatal testing because of family history may
show that a baby has a genetic disorder of metabolism.
In such cases, nutritional supplements may be
needed at birth, to reduce the risk of mental retardation
or learning problems and improve the child’s
chances of survival. A baby with Down syndrome is
at particularly high risk for heart defects. Whenever
there is a risk of a baby being born with a heart
defect, a pediatric cardiologist is alerted as soon as
the mother’s labor begins and is on call to check the
newborn immediately and recommend appropriate
treatment. M
Supplementing the neonatologists are additional clinicians
who specialize in treating children, including newborns:
pediatric cardiologists; ear, nose, and throat specialists;
rheumatologists; gastroenterologists; neurologists;
nephrologists; and pharmacologists. Everyone on
the nursing team is neonatology-certified. Nutritionists
track the newborns’ growth, respiratory therapists help
them breathe, physical therapists see to the special physical
needs of babies who might spend their days lying in
bed, and speech therapists help them learn how to feed
and swallow. Social workers help parents adjust to the
stress of having a sick baby and assist in planning for the
weeks and months ahead.
After going home, babies return to the NICU every six
months for assessment in a comprehensive developmental
clinic co-sponsored by the medical school and the
hospital. Many RWJMS faculty specialists serve at the
clinic, which is led by neonatologist Thomas Hegyi, MD,
professor of pediatrics, and pediatric psychologist
Barbara M. Ostfeld, PhD, professor of pediatrics. Dr.
Hegyi and Dr. Ostfeld also serve, respectively, as medical
director and program director for the Sudden Infant
Death Syndrome Center of New Jersey. For questions in
between scheduled clinics, parents may phone Catherine
Amato-Bowden, MSN, APN-BC, coordinator, high-risk
infant follow-up program, The Bristol-Myers Squibb
Children’s Hospital at RWJUH.
The Reproductive Sciences
Reproductive Endocrinology:
Science Verging on Science Fiction
he size of the division of reproductive
T endocrinology and infertility reflects the
rapid expansion of this growing science and
its strong presence at RWJMS. With 180 clinical and
support staff, covering every aspect of the field, the division
is larger than most OB/GYN departments, says its
director, Richard T. Scott, MD, professor of obstetrics,
gynecology, and reproductive sciences.
“The field is way ahead of where it was 30 — or even
15 — years ago,” adds Dr. Scott. “Still, one couple in
every six deals with infertility issues, and, with the
prevalence of delayed pregnancy, the numbers are
increasing.” Increased precision in screening and significant
advances in in vitro techniques are making pregnancy
possible for many couples with fertility issues or
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