- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT03375359
First Trimester Screening for Trisomy 21, 18, 13 and 22q11.2 Deletion Syndrome (ReFaPo02)
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.
Study Overview
Study Type
Enrollment (Anticipated)
Contacts and Locations
Study Contact
- Name: Karl-Oliver Kagan, Prof.
- Phone Number: +49 7071 29-82211
- Email: karl.kagan@med.uni-tuebingen.de
Study Contact Backup
- Name: Markus Hoopmann, PD
- Phone Number: +49 7071 29-82211
- Email: markus.hoopmann@med.uni-tuebingen.de
Study Locations
-
-
-
Tuebingen, Germany, 72076
- Recruiting
- University Hospital Tuebingen, Department of Women's Health
-
-
Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Genders Eligible for Study
Sampling Method
Study Population
Description
Inclusion Criteria:
- Maternal age of 18 years and more
- Crown rump length 45 - 84mm
- Referral for first trimester risk assessment
- Singleton pregnancy
- Written consent
Exclusion Criteria:
- No consent
- Known parental microdeletion 22q11.2
- Crown rump length <45mm or >84mm
- Multiple pregnancies including vanishing twins
Study Plan
How is the study designed?
Design Details
- Observational Models: Case-Only
- Time Perspectives: Prospective
Cohorts and Interventions
Group / Cohort |
Intervention / Treatment |
---|---|
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.
|
cfDNA screening test for aneuploidy risk assessment
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
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
|
15 month
|
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
|
15 month
|
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
|
15 month
|
Collaborators and Investigators
Sponsor
Investigators
- Principal Investigator: Karl-Oliver Kagan, Prof., University Hospital Tuebingen, Department of Women's Health
Study record dates
Study Major Dates
Study Start (Actual)
Primary Completion (Anticipated)
Study Completion (Anticipated)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Actual)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
- Pathologic Processes
- Heart Diseases
- Cardiovascular Diseases
- Nervous System Diseases
- Lymphatic Diseases
- Neurologic Manifestations
- Neurobehavioral Manifestations
- Endocrine System Diseases
- Congenital Abnormalities
- Genetic Diseases, Inborn
- Musculoskeletal Diseases
- Parathyroid Diseases
- Intellectual Disability
- Heart Defects, Congenital
- Cardiovascular Abnormalities
- Craniofacial Abnormalities
- Musculoskeletal Abnormalities
- Abnormalities, Multiple
- Chromosome Disorders
- Chromosome Aberrations
- Aneuploidy
- Chromosome Duplication
- 22q11 Deletion Syndrome
- Lymphatic Abnormalities
- Hypoparathyroidism
- Down Syndrome
- Trisomy
- DiGeorge Syndrome
Other Study ID Numbers
- PerFet_ReFaPo02
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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