Down Syndrome Clinical Trial
Official title:
First and 2nd Trimester Evaluation of the Risk of Aneuploidy
Too much or too little genetic information (chromosome material) can cause abnormal development of the fetus or death. Each year approximately 2.5 million pregnant women are screened for Down Syndrome using invasive screening methods (amniocentesis or chorionic villus sampling). This 11 center study of 38,000 women will compare the accuracy of the several non-invasive tests in the first and second trimesters of pregnancy versus amniocentesis or diagnosis at birth to diagnose aneuploidy or Down Syndrome.
The FASTER (First and Second Trimester Evaluation of Risk) Trial is a multicenter
prospective study comparing the accuracy of first and second trimester non-invasive
screening methods for Down syndrome and other aneuploidies to diagnosis at delivery or
miscarriage/fetal loss). All women will receive the two non-invasive test batteries in both
the first and second trimesters. The accuracy of the results of different combinations of
non-invasive tests will be compared with diagnosis at delivery or at miscarriage or later
fetal loss.
First trimester screening will involve ultrasound measurement of fetal nuchal translucency
(NT) thickness at 10-14 weeks gestation, together with maternal age, and serum levels of
pregnancy associated plasma protein-A (PPAP-A) and free-beta human chorionic gonadotropin
(FbhCG). Second trimester screening will be based on the current standard of care serum
"triple screen", which consists of alpha fetoprotein (AFP), unconjugated estriol (uE3), and
hCG, performed at 15-18 weeks gestation, together with maternal age and the new serum marker
inhibin-A. If patients screen positive (risk >/= 1 in 380), the patients are notified and
offered invasive testing at 15 weeks (a serum "quad" test, an additional tube of blood for
analysis of the presence of fetal nucleated erythrocytes in maternal blood [NIFTY: National
Institute of Child Health and Human Development Fetal Cell Study]), and amniocentesis on
those who accept). True positive cases receive counseling. True negative cases, those who
decline invasive testing, and those who screen negative after the serum "quad" test, receive
routine care with final pediatric outcome. Patients with an a priori risk for Down Syndrome
may elect to have invasive fetal testing at 15 weeks after quad testing. For all fetuses
with a NT measurement greater than 3 mm, and where karyotype is found to be normal after
amniocentesis, will be followed with a repeat ultrasound examination at 18 to 20 weeks
gestation, to evaluate fetal anatomy, particularly fetal cardiac structure. Final pediatric
examination information will be obtained following delivery. If pregnancy results in
miscarriage or later fetal loss, attempts will be made to karyotype any fetal tissue. This
is especially important for those pregnancies that abort spontaneously between the time of
the first and second trimester methods of screening. Pregnancy outcome data will be obtained
in all cases.
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Allocation: Non-Randomized, Endpoint Classification: Efficacy Study, Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Diagnostic
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