Down Syndrome - Comparison of Screening Methods in the 1st and 2nd Trimesters
Information source: National Institute of Child Health and Human Development (NICHD)
Information obtained from ClinicalTrials.gov on June 20, 2008
Link to the current ClinicalTrials.gov record.
Condition(s) targeted: Down Syndrome; Chromosome Abnormalities
Intervention: Ultrasound (Procedure); Serum screen (Procedure)
Phase: N/A
Status: Active, not recruiting
Sponsored by: National Institute of Child Health and Human Development (NICHD) Official(s) and/or principal investigator(s):
Mary E. D'Alton, M. D., Principal Investigator, Affiliation: Columbia-Presbyterian Hospital Medical Center
Summary
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.
Clinical Details
Official title: First and 2nd Trimester Evaluation of the Risk of Aneuploidy
Study design: Diagnostic, Non-Randomized, Open Label, Active Control, Single Group Assignment, Efficacy Study
Detailed description:
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.
Eligibility
Minimum age: 16 Years.
Maximum age: 45 Years.
Gender(s): Female.
Criteria:
Inclusion Criteria:
- Women 16 to 45 years old
- Enrolled by participating obstetrical center before 10-14 weeks gestation
- Gestational age 10 weeks three days to 13 weeks six days, with a minimum sonographic
crown rump length of 38 mm, maximum 84mm
- Informed consent of patient
- English fluent or accompanied by appropriate interpreter
- Healthy (although co-existing diseases allowed)
Exclusion Criteria:
- Multiple gestation
Locations and Contacts
University of Colorado Health Sciences Center, Denver, Colorado 80262, United States
New England Medical Center, Boston, Massachusetts 02111, United States
William Beaumont Hospital Research Institute, Royal Oak, Michigan 48073-6769, United States
Montefiore Medical Center, Bronx, New York 10461, United States
Mount Sinai Medical Center, New York, New York 10029, United States
New York University School of Medicine, New York, New York 10016, United States
Women and Infants Hospital, Providence, Rhode Island 02905, United States
University of Texas Medical Branch, Galveston, Texas 77555-0587, United States
University of Utah, Salt Lake City, Utah 84132, United States
Swedish Medical Center, Seattle, Washington 98104-1377, United States
Additional Information
Click here for more information on the National Institute of Child Health and Human Development.
Related publications: Wald NJ, Kennard A, Hackshaw A, McGuire A. Antenatal screening for Down's syndrome. J Med Screen. 1997;4(4):181-246. Review. Wald NJ, Hackshaw AK. Combining ultrasound and biochemistry in first-trimester screening for Down's syndrome. Prenat Diagn. 1997 Sep;17(9):821-9. Malone FD, D'Alton, MD. Fetal nuchal translucency. Contemporary Obstetrics and Gyncology 1998; 43: 117-31.
Last updated: February 21, 2007
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