Sunday, April 11, 1976
THE MICHIGAN DAILY
Page Three
inside:
page four-boo!h
sundy m tgctrnepage five-
looing back
Number 22 Page Three April
FEATUR
Gene tic co unseling: Unco vering birth defec
is
4, 1976
ES
Opinion is still divided on whether
genetics will ultimately prove to be
a boon to mankind
or become
the
tool that enables despots to wreak
their fantasies on the human race. In
the meantime,
however, counselors
stick to the simpler task of screening
L rth defects.
. By STEPHEN SELBST
IMAGINE A WORLD in which no
children are born handicap-
ped by birth defects. The gap be-
tween reality and that goal is still
wide, but genetic counselors, such
as Dr. Robert Kelch at University
Hospital, are working to narrow it.
"A child has a right to come into
the world born normally," the soft-
spoken pediatrician declares. In a
nutshell, that sentiment provides
the humane rationale for screen-
ing birth defects. Critics are more
skeptical, taking a broader view of
the long-term social implications
of the process. At their darkest
they prophesy Hitler-like schema
in which couples would be allowed
to reproduce only if they pass some
test of genetic "fitness."
-But selecting populations for
desirable physical attributes is
not what genetic counseling is
about right now, and maybe it
never will be. Presently tests to
screen birth defects exist for ap-
proximately 100 of the known to-
tal of over 1,600 genetic disorders.
Birth defects originate in muta-
tions of genetic codes, the biologi-
cal directions which govern the
formation of protein chains. In-
structions for each protein is con-
trolled by a gene, and each cell in
a human body contains over 100,-
000 genes, strung together in long
chains called chromosomes. Nor-
mal human cells contain 23 pairs
of chromosomes, one set donated
by the father and one by the
mother.
BIRTH DEFECTS result from
breakdowns in the transmis-
sion of g e n e t i c information.
Down's Syndrome is among the
most common of these. Also known
as mongolism, Down's Syndrome
occurs when a child ends up with
three of the number 21 chromo-
somes instead of the normal two.
As is common with many genetic
mutations, Down's Syndrome re-
sults in mental retardation, which
may range from moderate to se-
vere. Victims also have short limbs,
chronic heart conditions, and short
lives. Death claims one third of all
affected before one year, half by
age five. Few survive past twenty.
The overall incidence of Down's
Syndrome in this country is ap-
proximately 1 in 750 live births.
Nationally, about 4,000 children
are born with the condition each
year. The risk of producing a child
with Down's Syndrome increases
dramatically with the age of the
mother. While very young mothers
bear 1 child with Down's Syn-
drome out of every 1,200, by the
time maternal age climbs past 40,
the risk skyrockets to 1 out of ev-
ery 50, or perhaps higher.
Down's Snydrome, along with
many other genetic disorders can
be detected by amniocentesis, a re-
cently developed test which in-
volves drawing off some of the
fluid surrounding a woman's fetus
and analyzing it.
Amniocentesis is performed by
inserting a hollow needle into a
woman's uterus and then simoly
"tapping off" the fluid. Amniocen-
tesis is a quick procedure, usually
done under local anesthetic on an
outpatient basis. Typically, the test
is performed in the 16th or 17th
week of pregnancy, which, even
given the time needed to complete
the test, allows the mother time
to have an abortion if she decides
she wants one.
THE PHOTOGRAPH on the left shows a normal person's karotype, whch is a chart separating chromosomes according to size and shape. On the right, note the pre-
sence of three of the number 21 chromosomes, a condition which produces Down's Syndrome, a form a mental retardation. Genetic counselors can now detect the presence
of Down's Syndrome before an affected child is born.
THE FLUID DRAWN off by the
needle is grown for three or
four weeks in a receptive environ-
ment. When enough cells have
multiplied, the sample can be test-
ed. For some genetic disorders,
these examinations take the form
of chemical analyses. Finding
Down's Syndrome however, re-
quires another method. Using pho-
tomicroscopy, chromosomes in a
sample are magnified 6,000 times
and then photographed. After the
chromosomes have been identified,
they* are then cut out and assem-
bled into a karotype, a genetic
chart which sorts the chromo-
somes according to their size and
distinguishing c h a r a c t e r-
istics. Once arrayed in a karotype,
the presence of a third number 21
chromosome, the cause of Down's
Syndrome, is possible to detect.
Still, amniocentesis, a new pro-
cedure, is not entirely devoid of
hazards. As with any surgical pro-
cedure, no matter how simple,
there is the possibility of compli-
cations or laboratory error, al-
though Kelch said that the "risks
are under one per cent. The tests
are really very reliable."
The biggest danger posed by
amniocentesis is that while the
needle is penetrating the woman's
uterus it will strike the fetus. To
prevent that from occurring, be-
fore the procedure is performed
the doctor takes a picture of the
fetus in the uterus using ultra-
sonic sound waves.
In any event, the normal re-
sponse of the fetus, if touched, is
to move away from the needle; the
doctor, too, can feel if he has ac-
cidentally grazed the fetus, and
can withdraw the instrument.
FROM PRELIMINARY DATA, the
evidence suggests that the
rate of spontaneous abortion suf-
fered by women who have under-
gone amniocentesis is no higher
than normal. But the practice is
still too new to determine what the
long-range "effects are; observa-
tion of a group of children whose
mothers underwent amniocentesis
is still underway.
The present capacity for per-
forming amniocentesis tests is lim-
ited, and the cost is relatively
high, averaging around $300. More
important than the cost, however,
is the issue of who shall have ac-
cess to the test.
Some uses are easy to rule out.
One of the by-products of amnio-
centesis is that doctors can deter-
mine the sex of the unborn fetus.
If a healthy young woman asked
for amniocentesis on that basis,
however, Kelch would tell her, "no,
that simply isn't indicated. I don't
know any place in the country that
would do that."
For some women the test is not
frivolous, however. "I think any
woman over 35 who wants the test
should have it," he says, but his
voice trails off as he acknowledges
that "if every woman over 35 who
is pregnant demands it, we won't
have the facilities." Because the
procedure is still not widely known,
and because it is relatively expen-
sive, most of the beneficiaries of
amniocentesis to date have been
well educated women from families
with above average incomes.
But Kelch says that the demand
for birth defect screening is rising
rapidly as the practice receives
more publicity. He believes that
eventually political decisions for
increased services will bring about
an expansion of facilities. Such
pressure brought about a Michi-
gan law which now requires hos-
pitals to screen newborn infants
for phenylketonutria (PKU), a dis-
order in which the absence of an
enzyme leads to severe mental re-
tardation. Prompt detection of the
condition, which can be readily
tested for a few days after birth,
can prevent much of the brain
damage if the affected chiles is put
on a special diet.
T'HE VAST MAJORITY of the
states do some preliminary
screening of infants for birth de-
fects. Massachusetts has the most
comprehensive program;, children
fortunate enough to be born in
that state are automatically in-
spected for the presence of 16 pos-
sible abnormalities.
In the case of Down's syndrome,
amniocentesis offers the prospec-
tive mother solid evidence on whe-
ther the child will be affected at
birth. The certainty of deformity
may be a painful one; a study done
for a medical journal indicated
that many couples who decided to
abort a fetus suffered from depres-
sion. A significant number were
divorced not long afterwards.
See SCREENING, Page S
Stephen Selbst is the former City
Editor of The Daily.
8
TV
and alcoholism: Does the tube
cause people
to abuse the bottle?
By BARBARA CORNELL
THE - IMPACT OP TELEVISION
on Americans cannot be un-
derestimated. It is the incessant
and sometimes insidious companion
for millions of people. Used to its
fullest capacity, television can sell
just about anything - from cra-
zy breakfast cereals that have al-
most no vitamins to half-baked
politicians who capitalize on
smooth manners instead of sound
policies - to just about anyone.
And occasionally television can
pull inadvertent con jobs, too.
Television programming rarely
focuses on the consumption of al-
coholic beverages as a major theme.
Yet, liquor - both the hard stuff
and beer and wine - is often evi-
dent, providing a soft, mellow back-
ground with which the viewer can
identify.
Some media critics, however,
worry that television tends to glam-
orize booze or to treat it as a rela-
tively harmless pleasure associated
couple of "the boys." The thugs
wanted to collect on an old co-
caine debt Buddy owed. And they
weren't particularly concerned
whether they were paid in cash
or flesh.
With a little quick talking, Bud-
dy escaped a pair of broken legs.
He called his girlfriend out of the
concern that Buddy and his friends
didn't use any foul language or do
anything of a sexually offensive
nature, they had no qualms about
the choice of liquid refreshments.
But to some degree, the indus-
try itself has tried to downplay
the role of alcohol both in pro-
gramming and advertising. Unlike
,if alcohol is the most heavily abused drug in
America, then television is our number one pusher.'
-Sen. William Hathaway
consistent with plot and character
development." Also the code de-
clares that "the use of illegal drugs
or the abuse of legal drugs (of
which alcohol is one by strict medi-
cal definition) shall not be encour-
aged or shown as socially accept-
able." Beyond these program re-
strictions, the broadcasters have
voluntarily banned all advertise-
ments for hard liquor. And pitch-
es for beer and wine must be "pre-
sented in the best of good taste
and discretion" - which means the
products cannot be consumed on-
camera.
This "gentlemen's agreement"
with the liquor industry grew out
of a similar arrangement begun by
radio producers in 1939. Similar
guidelines were also placed on the
movie industry by its executives
during the post-prohibition era.
In many instances, however, the
Television Code seems to exist only
on paper rather than in practice.
After all, was Buddy's tippling an
bedroom and looked generally
pleased with himself. While ex-
plaining the situation to his blonde
companion, Buddy absent-minded-
ly reached for a decanter, poured
himself a drink, and took a cou-
ple of quick belts.
"Know something?" he giggled
to his girlfriend, as he tipped his
glass once again. "I think I can
breathe again."
the print media, television does
fall. under federal government con-
trol in that stations must be li-
censed by the Federal Communica-
tions Commission and have to dem-
onstrate that they operate in the
public interest. To help fulfill that
requirement, the television execu-
tives have drawn up a set of guide-
lines that define what is consider-
ed acceptable material for presen-
Mw