PregnancyReFaPo02NCT03375359
Reducing False Positives in Prenatal Screening
An observational study of Pregnancy, run by University Hospital Tuebingen at 1 site in Germany.
Trial summary
Combined first-trimester screening represents the gold standard of risk assessment for the presence of trisomy 21, 18, and 13. The concept is based on the age risk, the measurement of fetal nuchal translucency (NT), and the determination of serum markers free beta-hCG and PAPP-A in maternal blood. Read more about this study
- Who is it for?
- Ages 18 years and older, women onlyHealthy volunteers can take part
- Conditions the study is for
- Pregnancy
- What is being tested?
- cfDNA screening
- How many people
- 1,127 participants
- Where
- 1 siteGermany
- Study dates
- 8 Jan 2018to 31 Dec 2019
- 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 years and older
- Women only
- Healthy volunteers accepted
- Adult, Older adult
Study population: Pregnant women who are referred for FTS or for further follow-up examinations in case of a suspected anomaly or increased nuchal translucency at 11-13 weeks' gestation
Who may be able to join
- Maternal age of 18 years and more
- Crown rump length 45 - 84mm
- Referral for first trimester risk assessment
- Singleton pregnancy
- Written consent
Who cannot join
- No consent
- Known parental microdeletion 22q11.2
- Crown rump length <45mm or >84mm
- Multiple pregnancies including vanishing twins
Trial locations and contacts
1 site in 1 country.
Germany1 site
University Hospital Tuebingen, Department of Women's Health
Tübingen, 72076
About this study
Official title: First Trimester Screening for Trisomy 21, 18, 13 and 22q11.2 Deletion Syndrome - ReFaPo02
Combined first-trimester screening represents the gold standard of risk assessment for the presence of trisomy 21, 18, and 13. The concept is based on the age risk, the measurement of fetal nuchal translucency (NT), and the determination of serum markers free beta-hCG and PAPP-A in maternal blood.
In recent years it has been shown that the risk assessment can be improved by combining in-depth ultrasound and cell-free DNA analysis from maternal blood. In their latest study, the investigators were able to detect all fetuses with trisomy 21, 18, and 13 through this procedure. No normal fetus displayed an increased risk. In contrast, the detection rate in classic, combined first-trimester screening is about 95% and the false-positive rate is 3-5%. In this study the investigator examine the test quality - especially the false positives - of cell-free DNA analysis on trisomy 21, 18 and 13 as well as on the microdeletion 22q in 1000 pregnancies.
- Conditions
- Pregnancy
- Being tested
- cfDNA screening
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
cfDNA screeningDiagnostic test
cfDNA screening test for aneuploidy risk assessment
| Study group | Role | What they receive |
|---|---|---|
| cfDNA screening | Pregnant women who are referred for FTS or for further follow-up examinations in case of a suspected anomaly or increased nuchal translucency at 11-13 weeks' gestation can be recruited for this study. Receives: Diagnostic Test: cfDNA screening |
What is being measured
The primary outcome is the main question the study is designed to answer.
Screen positive rate
Screen-positive rate will be calculated by proportion of high risk results compared to all cfDNA tests performed
Measured: 15 month
Screen false-positive rate
False-positive rate will be calculated by proportion of high risk results compared to all cfDNA tests performed in pregnancies with a normal offspring
Measured: 15 month
Uninformative test rate in cfDNA screening for 22q11.2 deletion
Rate of uninformative tests will be defined by proportion of cfDNA screening for 22q11.2 deletion without results compared to all cfDNA tests performed
Measured: 15 month
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted18 Dec 2017
- Study start8 Jan 2018
- Primary completion31 Dec 2019
- Study completion31 Dec 2019
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for PregnancyStudies 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
- Observational
- Observational model
- Case only
- Time perspective
- Prospective
- Enrolment
- 1,127 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital Tuebingen
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Karl-Oliver Kagan, Prof., Principal investigator, University Hospital Tuebingen, Department of Women's Health
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03375359
- Sponsor's protocol ID
- PerFet_ReFaPo02
- Acronym
- ReFaPo02
- Status last verified
- Jan 2026
- First submitted
- 12 Dec 2017
- Last updated
- 26 Jan 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 26 Jan 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- First Trimester Screening for Trisomy 21, 18, 13 and 22q11.2 Deletion Syndrome - ReFaPo02
- ClinicalTrials.gov ID
- NCT03375359
- Acronym / sponsor ID
- ReFaPo02 / PerFet_ReFaPo02
- Conditions
- Pregnancy
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 1,127 participants (actual)
- Lead sponsor
- University Hospital TuebingenUniversity, hospital or other
- Study start
- 8 Jan 2018 (actual)
- Primary completion
- 31 Dec 2019 (actual)
- Study completion
- 31 Dec 2019 (actual)
- First posted
- 18 Dec 2017 (actual)
- 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.
Combined first-trimester screening represents the gold standard of risk assessment for the presence of trisomy 21, 18, and 13. The concept is based on the age risk, the measurement of fetal nuchal translucency (NT), and the determination of serum markers free beta-hCG and PAPP-A in maternal blood.
In recent years it has been shown that the risk assessment can be improved by combining in-depth ultrasound and cell-free DNA analysis from maternal blood. In their latest study, the investigators were able to detect all fetuses with trisomy 21, 18, and 13 through this procedure. No normal fetus displayed an increased risk. In contrast, the detection rate in classic, combined first-trimester screening is about 95% and the false-positive rate is 3-5%. In this study the investigator examine the test quality - especially the false positives - of cell-free DNA analysis on trisomy 21, 18 and 13 as well as on the microdeletion 22q in 1000 pregnancies.
Study design
- Observational model
- Case only
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| cfDNA screening | – | Diagnostic Test: cfDNA screeningPregnant women who are referred for FTS or for further follow-up examinations in case of a suspected anomaly or increased nuchal translucency at 11-13 weeks' gestation can be recruited for this study. |
Who may qualify
- Ages
- 18 years and older
- Sex
- Female only
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- Pregnant women who are referred for FTS or for further follow-up examinations in case of a suspected anomaly or increased nuchal translucency at 11-13 weeks' gestation
Key inclusion criteria (5 listed)
- Maternal age of 18 years and more
- Crown rump length 45 - 84mm
- Referral for first trimester risk assessment
- Singleton pregnancy
- Written consent
Key exclusion criteria (4 listed)
- No consent
- Known parental microdeletion 22q11.2
- Crown rump length <45mm or >84mm
- Multiple pregnancies including vanishing twins
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 |
|---|---|---|
| cfDNA screeningcfDNA screening test for aneuploidy risk assessment | Diagnostic test | cfDNA screening |
Primary outcome
Screen positive rate
Time frame: 15 month
Screen-positive rate will be calculated by proportion of high risk results compared to all cfDNA tests performed
Screen false-positive rate
Time frame: 15 month
False-positive rate will be calculated by proportion of high risk results compared to all cfDNA tests performed in pregnancies with a normal offspring
Uninformative test rate in cfDNA screening for 22q11.2 deletion
Time frame: 15 month
Rate of uninformative tests will be defined by proportion of cfDNA screening for 22q11.2 deletion without results compared to all cfDNA tests performed
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 26 Jan 2026.
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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.
Karl-Oliver Kagan, Prof. principal investigator
University Hospital Tuebingen, Department of Women's Health
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 Pregnancy, run by University Hospital Tuebingen at 1 site in Germany.
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 4 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: finished, as of the sponsor's last update on 26 Jan 2026. 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 Germany. 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
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?
Screen positive rate (time frame: 15 month). The study lists 3 primary outcomes in all. 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 26 Jan 2026.