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	Treatment or Intervention
Down Syndrome Chromosome Abnormalities	Procedure: Ultrasound  Procedure: Serum screen

Further Study Details: 

Expected Total Enrollment:  38000

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.

Ages Eligible for Study:  16 Years   -   45 Years,  Genders Eligible for Study:  Female

Accepts Healthy Volunteers

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

Colorado
      University of Colorado Health Sciences Center, Denver,  Colorado,  80262,  United States
Massachusetts
      New England Medical Center, Boston,  Massachusetts,  02111,  United States
Michigan
      William Beaumont Hospital Research Institute, Royal Oak,  Michigan,  48073-6769,  United States
New York
      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
Rhode Island
      Women and Infants Hospital, Providence,  Rhode Island,  02905,  United States
Texas
      University of Texas Medical Branch, Galveston,  Texas,  77555-0587,  United States
Utah
      University of Utah, Salt Lake City,  Utah,  84132,  United States
Washington
      Swedish Medical Center, Seattle,  Washington,  98104-1377,  United States

Study chairs or principal investigators

Mary E. D'Alton, M. D.,  Principal Investigator,  Columbia-Presbyterian Hospital Medical Center   

Study ID Numbers:  NICHD-0511; 1 RO1 HD37523
Record last reviewed:  March 2003
Last Updated:  October 13, 2004
Record first received:  November 4, 2000
ClinicalTrials.gov Identifier:  NCT00006445
Health Authority: United States: Federal Government
ClinicalTrials.gov processed this record on 2005-04-08