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PRISCA
Software
for the Risk Calculation of Trisomy 21, Trisomy 18 and
Neural Tube Defects
PRISCA*
is a Windows®-based software program
that can be used to calculate the risk of Down's syndrome, trisomy 18
and neural tube defects (NTD). It accommodates double-test (AFP and HCG)
and triple-test (AFP, HCG and unconjugated estriol) screening protocols.
Same-day risk calculation is possible through laboratory automation.
Down's
syndrome, or trisomy 21, is a congenital syndrome caused by triplication
or translocation of chromosome 21. It occurs in approximately one out
of every 700 live births. Abnormalities include mental retardation, a
number of physical defects, and an increased incidence of leukemia and
Alzheimer's disease by age 40. Reliable prenatal identification of fetuses
with Down's syndrome can be accomplished only by karyotyping after amniocentesis
during the second trimester of pregnancy, or by chorion villus sampling
(CVS) at the end of the first trimester. If amniocentesis or CVS were
performed on all patients routinely, however, a relatively high incidence
of either spontaneous abortions or pregnancy complications would result.
In
the late 1980s, a screening method was proposed for Down's syndrome that
used a computer-assisted interpretation of AFP, HCG and unconjugated estriol
tests along with gestational age, maternal age and other maternal characteristics.1,2
Haddow et al.3 found that this method
of screening for Down's syndrome would have made 75 percent of the amniocentesis
procedures unnecessary in the women over 35 years old who were studied.
The American College of Obstetricians and Gynecologists published a committee
opinion firmly recommending that multiple marker screening be offered
to women over age 35.4 Today, software-based
maternal screening is a part of routine testing in the obstetrical care
of pregnant women of all ages in the second trimester of pregnancy, and
may reduce the need for amniocentesis in women aged 35 or more.
Any
prenatal risk-calculation program, however, is a statistical program that
may be used only as a screening test; it must never be used for diagnostic
purposes. The risk calculation serves only to help the clinician and patient
decide whether amniocentesis should be performed.
DPC
is developing an export file for downloading data from the IMMULITE®
2000 immunoassay analyzer directly into the PRISCA software. For more
information on the PRISCA software or to learn how to obtain a demo version,
please contact your National Distributor.
References
1.
Cuckle HS, Wald NJ, Thompson SG. Estimating a woman's risk of having a
pregnancy associated with Down's syndrome using her age and serum alpha-fetoprotein
level. Br J Obstet Gynaecol 1987;94:387-402.
2.
Canick JA, Knight GJ, Palomaki GE, Haddow JE, Cuckle HS, Wald NJ. Low
second trimester maternal serum unconjugated oestriol in pregnancies with
Down's syndrome. Br J Obstet Gynaecol 1988;95:330-3.
3. Haddow JE, Palomaki GE, Knight GJ, Cunningham GC, Lustig LS, Boyd PA.
Reducing the need for amniocentesis in women 35 years of age or older
with serum markers for screening. N Engl J Med 1994;330:1114-8.
4. American College of Obstetricians and Gynecologists. Down syndrome
screening. (Committee opinion no. 141.) Washington, DC: American College
of Obstetricians and Gynecologists, 1994.
*Available outside the US.
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