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Preventing A Killer
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24
FRIDAY, JANUARY 6, 1989
adds Dr. Cash, is that ray-
Sachs babies are often ex-
quisitely beautiful, with
sweet faces, long eyelashes
and thick hair.
A Tay-Sachs pregnancy and
birth can be avoided. If con-
ception has already occurred,
the father and pregnant
mother can still be tested
with a blood sample, but it's
more complex to test the un-
born child. Since 1971, am-
niocentesis has been used
successfully to determine if a
woman is carrying an affected
fetus.
A relatively new technique
is also being employed to
detect Tay-Sachs babies. It's
called Chorionic Villus
Sampling (CVS). The pro-
cedure, which can be under-
taken six weeks earlier than
amniocentesis, requires that
a minute sample of the
placenta be removed for
testing.
"It's like a PAP smear," says
Dr. Evans. "But CVS can be
used to determine chromo-
somes to find disorders like
Tay-Sachs. The patients have
much more privacy. No one
needs to know the woman is
pregnant. Should there be
bad news and the couple
elects termination, it's safer,
easier, and less traumatic."
CVS testing has been
available in Detroit for four
years and just five years na-
tionally. Only 20 to 30 centers
in the country are equipped to
offer it for pre-natal testing.
According to Dr. Evans, CVS
is now the preferred method
of pre-natal detection. The
risks involved for mother and
child when using CVS are
comparable to amniocentesis,
says Gold.
Orthodox prohibitions
against abortions have led to
the Dor Yeshorim approach to
Tay-Sachs prevention. Tests
conducted in conjunction with
this New York organization
will be kept confidential un-
til tested individuals begin to
contemplate marriage.
A couple can then find out
if they could produce a Tay-
Sachs child without being
told their individual results.
To date, Tay-Sachs remains
an untreatable, incurable
disease, though work on treat-
ment is progressing. Gold
says research has resulted in
newer techniques to identify
the defective gene.
Scientists are working on
gene therapy, which involves
removing the bad gene and
replacing it, but this is still
very much in the experimen-
tal stages. Another area be-
ing explored is enzyme
replacement therapy, and
though promising, scientists
have encountered problems
re-introducing the missing
enzyme because of the body's
own protective mechanisms.
Education, screening, and
prevention are still the best
weapons with which to fight
Tay-Sachs and beat the odds
of genetic roulette. Testing
and monitoring have become
quite widespread.
Dr. Lester Weiss, who heads
Ford Hospital's genetics pro-
gram says from 1969 through
1985, more than 500,000 per-
sons have been screened, with
almost 22,000 carriers iden-
tified. Among them, 550 high
risk couples were discovered
and over 1,400 pregnancies
monitored. Of those pregnan-
cies, 267 turned out to be Thy-
Sachs, 256 couples elected to
Gold says
screenings have
been very
successful in the
Jewish population.
More Tay-Sachs
babies are being
born to non-Jews.
terminate, but over 1,000 nor-
mal, healthy babies were
born. It is possible for a high
risk couple to have a healthy
baby, helped by medical
science.
In this sense, foreknowledge
is crucial. Gold says screen-
ings have been very suc-
cessful in the Jewish popula-
tion. More Tay-Sachs babies
are being born to non-Jews.
"One hundred to 120 Jewish
Tay-Sachs babies show up
each year, of which about 85
are diagnosed pre-natally,"
says Dr. Evans. "About 20
were born to non-Jewish
couples. The carrier frequen-
cy is higher in the Jewish
population, but in absolute
numbers, we're seeing more
Thy-Sachs babies born to gen-
tiles than Jews. They're more
likely to slip through because
there's less testing in the gen-
tile population."
Gold says there is a serious
misconception that in a mix-
ed marriage you're safe from
Tay-Sachs. Because of exten-
sive screening in the last few
years, says Gold, it's often the
non-Jewish spouse who is the
carrier. This fact has led the
National Tay-Sachs and
Allied Diseases Foundation to
advocate genetic testing for
the general public.
Executive Director Marge
Epstein says no matter who
you are or where your
ancestors come from, screen-
ing should be an integral part
of the pre-marital process, for
peace of mind and for the
health of children yet un-
born.
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