Down Syndrome - Comparison of Screening Methods in the 1st and 2nd Trimesters

The recruitment status of this study is unknown because the information has not been verified recently.
Verified March 2003 by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD).
Recruitment status was  Active, not recruiting
Sponsor:
Information provided by:
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
ClinicalTrials.gov Identifier:
NCT00006445
First received: November 4, 2000
Last updated: February 21, 2007
Last verified: March 2003
  Purpose

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.


Condition Intervention
Down Syndrome
Chromosome Abnormalities
Procedure: Ultrasound
Procedure: Serum screen

Study Type: Interventional
Study Design: Allocation: Non-Randomized
Endpoint Classification: Efficacy Study
Intervention Model: Single Group Assignment
Masking: Open Label
Primary Purpose: Diagnostic
Official Title: First and 2nd Trimester Evaluation of the Risk of Aneuploidy

Resource links provided by NLM:


Further study details as provided by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD):

Estimated Enrollment: 38000
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

Ages Eligible for Study:   16 Years to 45 Years
Genders Eligible for Study:   Female
Accepts Healthy Volunteers:   Yes
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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00006445

Locations
United States, Colorado
University of Colorado Health Sciences Center
Denver, Colorado, United States, 80262
United States, Massachusetts
New England Medical Center
Boston, Massachusetts, United States, 02111
United States, Michigan
William Beaumont Hospital Research Institute
Royal Oak, Michigan, United States, 48073-6769
United States, New York
Montefiore Medical Center
Bronx, New York, United States, 10461
New York University School of Medicine
New York, New York, United States, 10016
Mount Sinai Medical Center
New York, New York, United States, 10029
United States, Rhode Island
Women and Infants Hospital
Providence, Rhode Island, United States, 02905
United States, Texas
University of Texas Medical Branch
Galveston, Texas, United States, 77555-0587
United States, Utah
University of Utah
Salt Lake City, Utah, United States, 84132
United States, Washington
Swedish Medical Center
Seattle, Washington, United States, 98104-1377
Sponsors and Collaborators
Investigators
Principal Investigator: Mary E. D'Alton, M. D. Columbia-Presbyterian Hospital Medical Center
  More Information

Additional Information:
Publications:
ClinicalTrials.gov Identifier: NCT00006445     History of Changes
Other Study ID Numbers: NICHD-0511, 1 RO1 HD37523
Study First Received: November 4, 2000
Last Updated: February 21, 2007
Health Authority: United States: Federal Government

Keywords provided by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD):
Pregnancy
Ultrasound
Serum screen
Pregnancy associated plasma protein-A (PAPP-A)
Free-beta human chorionic gonadotropin (FbhCG)
Alpha fetoprotein
Unconjugated estriol
Inhibin-A
Down syndrome
Aneuploidy

Additional relevant MeSH terms:
Down Syndrome
Syndrome
Chromosome Aberrations
Chromosome Disorders
Intellectual Disability
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Abnormalities, Multiple
Congenital Abnormalities
Genetic Diseases, Inborn
Disease
Pathologic Processes

ClinicalTrials.gov processed this record on October 19, 2014