Down SyndromeNCT00006445
Down Syndrome - Comparison of Screening Methods in the 1st and 2nd Trimesters
A study testing Ultrasound and Serum screen in people with Down Syndrome and Chromosome Abnormalities, run by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) at 10 sites in United States.
Trial 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). Read more about this study
- Who is it for?
- Ages 16 to 45 years, women onlyHealthy volunteers can take part
- Conditions the study is for
- Down Syndrome, Chromosome Abnormalities
- What is being tested?
- Ultrasound and Serum screen
- Type of treatment
- Surgery or procedure
- How many people
- 38,000 participants
- Where
- 10 sitesUnited States
- Study dates
- Start not givento not given
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 16 to 45 years
- Women only
- Healthy volunteers accepted
- Child, Adult
Who may be able to join
- 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)
Who cannot join
- Multiple gestation
Trial locations and contacts
10 sites in 1 country.
10 sites in 1 country
United States10 sites
New England Medical Center
Boston, Massachusetts, 02111
University of Colorado Health Sciences Center
Denver, Colorado, 80262
University of Texas Medical Branch
Galveston, Texas, 77555-0587
New York University School of Medicine
New York, New York, 10016
Mount Sinai Medical Center
New York, New York, 10029
Women and Infants Hospital
Providence, Rhode Island, 02905
William Beaumont Hospital Research Institute
Royal Oak, Michigan, 48073-6769
University of Utah
Salt Lake City, Utah, 84132
Swedish Medical Center
Seattle, Washington, 98104-1377
Montefiore Medical Center
The Bronx, New York, 10461
About this study
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.
Read the 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.
- Conditions
- Down Syndrome, Chromosome Abnormalities
- Being tested
- Ultrasound, Serum screen
- Keywords
- 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
- Medical subject headings
- Down Syndrome, Chromosome Aberrations, Aneuploidy
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
UltrasoundProcedure or surgery
Serum screenProcedure or surgery
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 Nov 2000 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Down SyndromeStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Non-randomised
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 38,000 participants
Sponsor and investigators
- Lead sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- Sponsor type
- US National Institutes of Health
- Investigators
- Mary E. D'Alton, M. D., Principal investigator, Columbia-Presbyterian Hospital Medical Center
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00006445
- Sponsor's protocol ID
- NICHD-0511
- Other IDs
- 1 RO1 HD37523
- Status last verified
- Mar 2003
- First submitted
- 4 Nov 2000
- Last updated
- 22 Feb 2007
- Results posted
- No
Publications
Wald NJ, Kennard A, Hackshaw A, McGuire A. Antenatal screening for Down's syndrome. J Med Screen. 1997;4(4):181-246. doi: 10.1177/096914139700400402.
PubMed 9494915Wald NJ, Hackshaw AK. Combining ultrasound and biochemistry in first-trimester screening for Down's syndrome. Prenat Diagn. 1997 Sep;17(9):821-9.
PubMed 9316126Malone FD, D'Alton, MD. Fetal nuchal translucency. Contemporary Obstetrics and Gyncology 1998; 43: 117-31.
Study at a glance
From the registry record, last updated by the sponsor on 22 Feb 2007. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- First and 2nd Trimester Evaluation of the Risk of Aneuploidy
- ClinicalTrials.gov ID
- NCT00006445
- Acronym / sponsor ID
- NICHD-0511
- Conditions
- Down Syndrome, Chromosome Abnormalities
- Keywords
- Pregnancy, Ultrasound, Serum screen, Pregnancy associated plasma protein-A (PAPP-A), Free-beta human chorionic gonadotropin (FbhCG), Alpha fetoprotein, Unconjugated estriol, Inhibin-A
- Study type
- Interventional
- Recruitment status
- Unknown status
- Enrolment
- 38,000 participants
- Lead sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)US National Institutes of Health
- First posted
- 6 Nov 2000 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Non-randomised
- Intervention model
- Single group
- Masking
- None (open label)
Who may qualify
- Ages
- 16 to 45 years
- Sex
- Female only
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult
Key inclusion criteria (6 listed)
- 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
Key exclusion criteria (1 listed)
- Multiple gestation
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Ultrasound | Procedure or surgery | – |
| Serum screen | Procedure or surgery | – |
Primary outcome
Not reported in the source record.
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 22 Feb 2007.
- Background: PubMed 9494915Wald NJ, Kennard A, Hackshaw A, McGuire A. Antenatal screening for Down's syndrome. J Med Screen. 1997;4(4):181-246. doi: 10.1177/096914139700400402.
- Background: PubMed 9316126Wald NJ, Hackshaw AK. Combining ultrasound and biochemistry in first-trimester screening for Down's syndrome. Prenat Diagn. 1997 Sep;17(9):821-9.
- BackgroundMalone FD, D'Alton, MD. Fetal nuchal translucency. Contemporary Obstetrics and Gyncology 1998; 43: 117-31.
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Down Syndrome
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Mary E. D'Alton, M. D. principal investigator
Columbia-Presbyterian Hospital Medical Center
10 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Ultrasound and Serum screen in people with Down Syndrome and Chromosome Abnormalities, run by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) at 10 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 6 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 22 Feb 2007. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 10 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00006445, which also lists 3 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 22 Feb 2007.