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By ORLANDO J. MILLER, M. D.
Aulttant Prafmur of Obstetrics and Gynecology and Ucturar in Gc-nc-tki,
Coliimbia-r'rMbrterian Medical Cantor, Nw York
1U
with lack Ryan
be able to reduce the chances of cellu
lar growth getting off track during
a baby's development
Consider cleft palate again. Two
New Jersey doctors, Lyon P. Strean
and Lyndon A. Peer, made a study
of mothers of cleft-palate children.
Most had suffered some illness or
emotional disturbance, and in each
case at a stage of pregnancy when
the palate forms. Could these stresses
have caused the mothers' adrenal
gland to produce extra hydrocorti
sone which, in turn, retarded normal
formation of the baby's palate?
The doctors injected female mice
with cortisone and other agents in
heavy dosage. The mice produced off
spring with cleft palates. In the next
experiment, the same agents were in
troduced into the female mice but
while the offsprings' palates were
forming, the mice also received vita
mins B6, B12, and C. This time, no
cleft palates. Had the vitamins coun
tered the original agents? If so,
would it be practical to give these
vitamins to an expectant mother who
suffers illness at a stage of pregnan
cy when the palate forms?
No preventive has come out of
this experiment, but it shows the
direction research is taking in try
ing to learn what causes abnormali
ties and how to reduce them.
This is important because we are
not sure how permanent corrective
surgery is. The cleft-palate child
probably will have no future trouble.
But what of the baby whose heart
did not develop properly?
Until 20 years ago, he faced death
or incapacitation. Then Dr. Rob
ert Gross performed an - operation
on an infant's heart, closing off a
malformed duct that was shunting
blood from its normal circulatory
route. From that pioneering effort,
surgeons have advanced until they
now probe the heart itself, mending
nature's mistakes while machines
take over the job of circulating blood.
But if the heart had developed cor
rectly, there would be less question
of its enduring in adolescence and
adulthood. Was this an inherited de
fect? Or did some agent thwart na
ture a drug the mother took, some
thing awry in her body chemistry,
or a virus infection?
In 60 percent of the cases, we don't
know what caused the anomalies,
although scientists believe most con
genital defects result from a combin-
ation of causes. Are parents largely
to blame for the defects? Sometimes
they think so, yet there is little scien
tific basis for this feeling. Only. 20
percent of abnormalities have been
traced to inherited factors. Ten per
cent probably come from chromosome
aberrations (a breakdown of the
chromosome, which helps pass on
parents' characteristics, by nongene
tic causes radiation would be one
example), and another 10 percent
from virus infection.
THE THALIDOMIDE tragedies illus
trate how more than one factor is
probably involved in a deformed
birth. You recall headlines about de
formed babies being born to many
mothers who took the drug, but what
we overlooked is that deformities
occurred only among 20 percent of
thalidomide mothers. Why did most
of them bear normal children? One
guess is that the drug alone did not
cause the deformity. It was a com
bination of the drug and other
factors.
While we grope toward those
"other factors," initial research has
provided young women with a guide
for reducing the risk of bearing de
formed children. Abnormalities de
velop in the first three months of
pregnancy, with the first six weeks
most vital, so obviously a woman
should be under a doctor's care as
early in pregnancy as possible.
She will be advised to avoid such
anomaly risks as X rays of the pelvic
region, certain drugs, and high alti
tudes. Some doctors may suggest
immunization against influenza be
cause we know that at least one virus
can adversely influence development
of the embryo and may lead to abor
tion. In 1941, Dr. N. M. Gregg of
Australia first proved that German
measles, contracted during the first
three months of pregnancy, produced
heart malformations, cataracts, deaf
ness, and other defects in the child.
Despite such evidence, doctors
could do little but warn expectant
mothers of the risk of infection. Per
haps they will do more in the future.
Just last year American scientists
succeeded in isolating the elusive
virus that causes German measles.
Evidence indicates that 90 percent of
those infected develop neutralizing
antibodies to the virus. There is a
tremendous amount of work to be
done on this development, but some
hope is offered for a vaccine which
would immunize child-bearing women
against German measles.
Are there other anomaly-producing
viruses? Last year Australian doctors
found indications that mongolism,
which results from the presence of
an extra chromosome, may be caused
by a virus. For 16 years they kept
records of mongoloid births, and the
pattern typified those associated with
viral epidemics. Mongoloid births
clustered more in urban areas where
there is more personal contact, and
they increased in number at certain
times one Melbourne suburb aver
aged one or two mongoloids a year,
then in 1944 seven were born in seven
months, four in the same week and
living within a quarter-mile area.
Fifteen years later, five mongoloids
were born in the same suburb within
a half-block area. This is no more
than a beginning, of course, but if
borne out by other studies, we could
hope to isolate the harmful virus
someday, then try to develop an "an
timongoloid vaccine."
MEANWHILE, other scientists con
centrate on helping those al
ready born with afflictions. Signifi
cant successes, for example, have
been achieved with metabolic dis
orders. A Swedish mother with two
healthy children loses her newborn,
and nobody knows why. But she re
calls an uncommon odor to the baby's
diapers, and from that slim clue
eventually evolves treatment for
phenylketonuria (PKU).
In PKU, the liver fails to produce
an enzyme which acts on phenylala
nine. When unconverted, this life
building amino acid gets into the
blood stream with poisonous effects.
That clue in Sweden led to the first
forward step, a "green diaper" test
which alerted doctors to the defect
Next came the development of a diet
low in phenylalanine which saved the
afflicted baby's life but, because the
diaper test lost vital time, it was
sometimes administered too late to
prevent serious brain damage.
Obviously, the next step was to
find a quicker test One has recently
been developed. It uses a few drops
of blood from the baby's heel to di
agnose the disorder. Last summer,
the U.S. Children's Bureau began a
screening of this test on 400,000 new
borns, with expectations that It will
permit earlier treatment of PKU and
other metabolic disorders.
Among the metabolic disorders
(Continued on page 14)
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