Trisomy 21DBS&CFFNCT01837979
Down Syndrome Screening Based on Dried Blood Spots and Cell-free Fetal DNA
An observational study of Trisomy 21, run by Peking Union Medical College Hospital at 1 site in China.
Trial summary
There are 26,600 Down Syndrome newborns every year in China. The economic burden of this disease is 65,000 USD for lifetime of every patient. The common prenatal screening and diagnosis procedure for fetal chromosomal abnormalities in China is maternal serum prenatal screening in second trimester followed by… Read more about this study
- Who is it for?
- Ages 18 to 35 years, women onlyHealthy volunteers can take part
- Conditions the study is for
- Trisomy 21
- What is being tested?
- cell-free fetal DNA
- Type of treatment
- Surgery or procedure
- How many people
- 2,000 participants
- Where
- 1 siteChina
- Study dates
- Apr 2013to Jan 2015
- Phase
- Observational
- 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 18 to 35 years
- Women only
- Healthy volunteers accepted
- Adult
Study population: pregnant women with 15-20+6 weeks of gestation
Who may be able to join
- Single gestation;
- Chinese natives or non-Chinese citizen of Chinese ancestry;
- 15-20+6 weeks of gestation;
- be able to accept follow-ups of the pregnancy outcome;
- healthy, without other major or chronic diseases;
Who cannot join
- N/A
Trial locations and contacts
1 site in 1 country.
China1 site
Department of ob gyn, Peking Union Medical College Hospital
Beijing, Beijing Municipality, 100730
About this study
Official title: A Clinical Trial to Explore a New Prenatal Screening and Diagnosis Pattern for Fetal Chromosomal Abnormalities With Dried Blood Spots and Cell-free Fetal DNA.
There are 26,600 Down Syndrome newborns every year in China. The economic burden of this disease is 65,000 USD for lifetime of every patient. The common prenatal screening and diagnosis procedure for fetal chromosomal abnormalities in China is maternal serum prenatal screening in second trimester followed by amniocentesis. The detection rate of MSS is 70%-75% with 5% false positive rate. There are only 13.9% of pregnant women can receive prenatal screening testing in China. It is very urgent that we build a training system and convenient, efficient, cost-effective procedure suitable to rural China.
The use of dried blood spots (DBS) technology in conjunction with the second trimester prenatal screening protocol has been proved to be as efficient as serum screening by our previous study. Noninvasive prenatal testing that uses cell free fetal DNA (cff DNA) from the plasma of pregnant women offers a tremendous potential for fetal chromosomal abnormalities. A positive test should be followed by invasive prenatal diagnosis to confirm the test results. Cff DNA is a good supplement to the DBS technology in rural China. A combination of the two methods can increase the screening rate and accuracy without increasing the demand of amniocentesis and cytogenetic test. This procedure with adequate training system should be suitable to rural China.
Our study will build a training system for DBS and cffDNA prenatal screening procedure in Pinggu, Beijing. Two thousand pregnant women will receive prenatal screening. DBS sample will be collected in the second trimester, Cff DNA is offered to confirm the positive screening test results, and lastly amniocentesis is offered for confirmation of the test results. All of the pregnancy and neonatal outcomes will be followed. We can estimate the efficiency and cost-effectiveness of DBS followed with cff DNA screening procedure.
Read the detailed description
Goals To build a training system and DBS and cffDNA prenatal screening procedure that is suitable to rural China.
Objectives Develop a standardized prenatal screening test training program. Evaluate the efficiency and cost-effectiveness of DBS and cffDNA prenatal screening procedure in rural China.
Specific activities
- Train the medical staff: Select two hospitals in Pinggu Village. Train all of the obstetricians and family doctors, nurses in these counties about the prenatal screening test as well as DBS and cff DNA technology. Build a series of standardized training profiles for the doctors and nurses. Evaluate the knowledge of the trained staff and compare the prenatal screening rate as well as some key health outcome variables pre and post the training.
- collect DBS sample in the 2nd trimestaer: Two thousand pregnant women will receive prenatal screening. DBS sample together with serum screening samples will be collected in the second trimester.
- Cff DNA for DBS high risk pregnant women: Cff DNA is offered to confirm the positive screening test results.
- amniocentesis for Cff DNA high risk pregnant women: Amniocentesis is offered for confirmation of the test results.
- Follpw-up the neonatal outcome: All of the pregnancy and neonatal outcomes will be followed.
- Statistical analysis: We can estimate the efficiency and cost-effectiveness of DBS followed with cff DNA screening procedure. We can give the recommendation to the government for a potential expansion of new screening diagnosis procedure to be used in the countryside.
Analytic methods Build the database by visual Foxpro 5.0. Use the SAS9.2 software to do statistical analysis.
Expected results and products Develop standardized prenatal screening test training program for the doctors and nurses in rural China. Estimate the training outcome. Estimate the detection rate of DBS and compare with maternal serum screening test. Estimate the sensitivity of specificity of cffDNA test. Estimate the efficiency and cost-effectiveness of DBS and cff DNA screening procedure. Make sure if DBS and cffDNA is suitable to rural China and successfully decreases the birth defects.
Timetable
- Year 1 Select the hospitals and form the contracts with local staff. Develop the training program and finish training. Evaluate the training outcome. Start to collect DBS samples followed with cffDNA. Enroll the pregnant women in the second trimester who sign the consent form.
- Year 2 Follow-up the pregnancy and neonatal outcomes. Finish the statistical analysis and paper writing.
- Conditions
- Trisomy 21
- Being tested
- cell-free fetal DNA
- Keywords
- prenatal testing for fetal aneuploidy, dried blood spots, cell-free fetal DNA, detection rate, cost-effectiveness
- Medical subject headings
- Down Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
cell-free fetal DNAProcedure or surgery
cell-free fetal DNA for DBS and maternal serum screening high risk pregnant women. Comparison of multiple Down's syndrome screening tests.
| Study group | Role | What they receive |
|---|---|---|
| DBS screening test | cell-free fetal DNA for Dried blood spots samples in high risk pregnant women. Receives: Procedure: cell-free fetal DNA | |
| maternal serum screening test | cell-free fetal DNA for maternal serum screening test samples in high risk pregnant women. Receives: Procedure: cell-free fetal DNA |
What is being measured
The primary outcome is the main question the study is designed to answer.
detection rate
Detection rate of trisomy 21 based on dried blood spots and cell-free fetal DNA. Compare the detection rate of screening test on dried blood spots with maternal serum screening test.
Measured: April, 2015
Secondary outcomes (1)
positive predictive value and negative predictive value
the number of patients can be detected in Down syn and the proportion of the actual number of cases to screening positive cases number
Measured: 3 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted23 Apr 2013 (estimated)
- Study startApr 2013
- Primary completionJan 2015 (estimated)
- Study completionJan 2015 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Trisomy 21Studies of the same condition, open and under way.
- More trials run by Peking Union Medical College HospitalThe sponsor's other registered studies.
- 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
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 2,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Peking Union Medical College Hospital
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Liangkun Ma, MD, Study director, Peking Union Medical College
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01837979
- Sponsor's protocol ID
- Down syndrome screening
- Acronym
- DBS&CFF
- Status last verified
- Apr 2013
- First submitted
- 14 Apr 2013
- Last updated
- 23 Apr 2013
- Results posted
- No
- Data monitoring committee
- Yes
Study at a glance
From the registry record, last updated by the sponsor on 23 Apr 2013. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Clinical Trial to Explore a New Prenatal Screening and Diagnosis Pattern for Fetal Chromosomal Abnormalities With Dried Blood Spots and Cell-free Fetal DNA.
- ClinicalTrials.gov ID
- NCT01837979
- Acronym / sponsor ID
- DBS&CFF / Down syndrome screening
- Conditions
- Trisomy 21
- Keywords
- prenatal testing for fetal aneuploidy, dried blood spots, cell-free fetal DNA, detection rate, cost-effectiveness
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 2,000 participants (estimated)
- Lead sponsor
- Peking Union Medical College HospitalUniversity, hospital or other
- Study start
- Apr 2013
- Primary completion
- Jan 2015 (estimated)
- Study completion
- Jan 2015 (estimated)
- First posted
- 23 Apr 2013 (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.
There are 26,600 Down Syndrome newborns every year in China. The economic burden of this disease is 65,000 USD for lifetime of every patient. The common prenatal screening and diagnosis procedure for fetal chromosomal abnormalities in China is maternal serum prenatal screening in second trimester followed by amniocentesis. The detection rate of MSS is 70%-75% with 5% false positive rate. There are only 13.9% of pregnant women can receive prenatal screening testing in China. It is very urgent that we build a training system and convenient, efficient, cost-effective procedure suitable to rural China.
The use of dried blood spots (DBS) technology in conjunction with the second trimester prenatal screening protocol has been proved to be as efficient as serum screening by our previous study. Noninvasive prenatal testing that uses cell free fetal DNA (cff DNA) from the plasma of pregnant women offers a tremendous potential for fetal chromosomal abnormalities. A positive test should be followed by invasive prenatal diagnosis to confirm the test results. Cff DNA is a good supplement to the DBS technology in rural China. A combination of the two methods can increase the screening rate and accuracy without increasing the demand of amniocentesis and cytogenetic test. This procedure with adequate training system should be suitable to rural China.
Our study will build a training system for DBS and cffDNA prenatal screening procedure in Pinggu, Beijing. Two thousand pregnant women will receive prenatal screening. DBS sample will be collected in the second trimester, Cff DNA is offered to confirm the positive screening test results, and lastly amniocentesis is offered for confirmation of the test results. All of the pregnancy and neonatal outcomes will be followed. We can estimate the efficiency and cost-effectiveness of DBS followed with cff DNA screening procedure.
Detailed description
Goals To build a training system and DBS and cffDNA prenatal screening procedure that is suitable to rural China.
Objectives Develop a standardized prenatal screening test training program. Evaluate the efficiency and cost-effectiveness of DBS and cffDNA prenatal screening procedure in rural China.
Specific activities
- Train the medical staff: Select two hospitals in Pinggu Village. Train all of the obstetricians and family doctors, nurses in these counties about the prenatal screening test as well as DBS and cff DNA technology. Build a series of standardized training profiles for the doctors and nurses. Evaluate the knowledge of the trained staff and compare the prenatal screening rate as well as some key health outcome variables pre and post the training.
- collect DBS sample in the 2nd trimestaer: Two thousand pregnant women will receive prenatal screening. DBS sample together with serum screening samples will be collected in the second trimester.
- Cff DNA for DBS high risk pregnant women: Cff DNA is offered to confirm the positive screening test results.
- amniocentesis for Cff DNA high risk pregnant women: Amniocentesis is offered for confirmation of the test results.
- Follpw-up the neonatal outcome: All of the pregnancy and neonatal outcomes will be followed.
- Statistical analysis: We can estimate the efficiency and cost-effectiveness of DBS followed with cff DNA screening procedure. We can give the recommendation to the government for a potential expansion of new screening diagnosis procedure to be used in the countryside.
Analytic methods Build the database by visual Foxpro 5.0. Use the SAS9.2 software to do statistical analysis.
Expected results and products Develop standardized prenatal screening test training program for the doctors and nurses in rural China. Estimate the training outcome. Estimate the detection rate of DBS and compare with maternal serum screening test. Estimate the sensitivity of specificity of cffDNA test. Estimate the efficiency and cost-effectiveness of DBS and cff DNA screening procedure. Make sure if DBS and cffDNA is suitable to rural China and successfully decreases the birth defects.
Timetable
- Year 1 Select the hospitals and form the contracts with local staff. Develop the training program and finish training. Evaluate the training outcome. Start to collect DBS samples followed with cffDNA. Enroll the pregnant women in the second trimester who sign the consent form.
- Year 2 Follow-up the pregnancy and neonatal outcomes. Finish the statistical analysis and paper writing.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| DBS screening test | – | Procedure: cell-free fetal DNAcell-free fetal DNA for Dried blood spots samples in high risk pregnant women. |
| maternal serum screening test | – | Procedure: cell-free fetal DNAcell-free fetal DNA for maternal serum screening test samples in high risk pregnant women. |
Who may qualify
- Ages
- 18 to 35 years
- Sex
- Female only
- Healthy volunteers
- Accepted
- Age groups
- Adult
- Study population
- pregnant women with 15-20+6 weeks of gestation
Key inclusion criteria (5 listed)
- Single gestation;
- Chinese natives or non-Chinese citizen of Chinese ancestry;
- 15-20+6 weeks of gestation;
- be able to accept follow-ups of the pregnancy outcome;
- healthy, without other major or chronic diseases;
Key exclusion criteria (1 listed)
- N/A
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 |
|---|---|---|
| cell-free fetal DNAcell-free fetal DNA for DBS and maternal serum screening high risk pregnant women. Comparison of multiple Down's syndrome screening tests. | Procedure or surgery | DBS screening test, maternal serum screening test |
Primary outcome
detection rate
Time frame: April, 2015
Detection rate of trisomy 21 based on dried blood spots and cell-free fetal DNA. Compare the detection rate of screening test on dried blood spots with maternal serum screening test.
1 secondary outcome
positive predictive value and negative predictive value
Time frame: 3 years
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 23 Apr 2013.
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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.
Liangkun Ma, MD study director
Peking Union Medical College
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Trisomy 21, run by Peking Union Medical College Hospital at 1 site in China.
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 5 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 23 Apr 2013. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in China. 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.
What does the primary outcome measure?
detection rate (time frame: April, 2015). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 23 Apr 2013.