©2003 Ernst & Young up
October 9, 2003
rome
oner
■cent of the time, ii
ndicated a fetus prob-
wn syndrome,
le in 800 babies has
ome, the most com-
osomal birth defect
h the syndrome suffer
lation and deformities
road, Hat face, short
small head and ears,
le four indicators
w a high probability
ndrome, women can
Initive test. In chori-
sampling, cells are
om the placenta with
ally at 10 to 12 weeks
/. In amniocentesis,
e commonly done in
fluid is drawn from
sac with a needle; it
weeks or later. Both
rry about a 1 percent
riage.
y was reported in
ew England Journal
I. Evans, director of
or Genetics and Fetal
at St.
sevelt Hospital
York, said the study
gradual shift from
ter screening to this
r e been literally hum
usands of patients
Idwide who confirm
rid Evans, president
ledicine Foundation
It’s being routinely
ic United Kingdom,
ome on page 7A
7A
Thursday, October 9, 2003
Syndrome
Continued from page 6A
, Brazil and many other
countries.”
In an accompanying editori-
Drs. Michael T. Mennuti
i Deborah A. Driscoll of the
University of Pennsylvania
of Medicine wrote that
second-trimester screening
ild continue to be the stan-
I until detailed guidelines
be developed for using the
ultrasound and other tests.
Because mothers 35 or older
it a higher risk of having a
wn syndrome baby most get
one of the invasive tests.
In addition to looking at the
ither’s age, the screening
combination tested by Wapner
colleagues looks for low
levels of a protein called preg-
associated plasma pro
tein A, and for high levels of a
of the hormone human
chorionic gonadotropin. The
ultrasound test looks for tell-
ehigh levels of fluid in the
us’ neck.
Evans, who has researched
1 ultrasound test and been
ng it for a decade, said it is
the single best marker of Down
syndrome. But he also warned
that correctly reading the ultra-
requires specialized
and experience. It is
available at some U.S. academ-
medical centers.
Wapner said doctors might
tin half the number of inva-
;ive tests by using the corn-
screening to correctly
identify normal as well as
iwn syndrome fetuses.
Currently, the screening
lenerally used in this country
the mother’s blood for
levels of a different
of gonadotropin hor-
, a protein called alpha-
fetoprotein and the hormone
estriol, which together are 65
percent accurate. Adding a
new test for the hormone
inhibin A increases reliability
loupto 75 percent.
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