First Trimester Screening for Trisomy 21, 18, 13 and 22q11.2 Deletion Syndrome (ReFaPo02)
|The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.|
|ClinicalTrials.gov Identifier: NCT03375359|
Recruitment Status : Recruiting
First Posted : December 18, 2017
Last Update Posted : January 9, 2018
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.
|Condition or disease||Intervention/treatment|
|Pregnancy||Diagnostic Test: cfDNA screening|
|Study Type :||Observational|
|Estimated Enrollment :||1000 participants|
|Official Title:||First Trimester Screening for Trisomy 21, 18, 13 and 22q11.2 Deletion Syndrome - ReFaPo02|
|Actual Study Start Date :||January 8, 2018|
|Estimated Primary Completion Date :||March 29, 2019|
|Estimated Study Completion Date :||April 30, 2019|
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.
Diagnostic Test: cfDNA screening
cfDNA screening test for aneuploidy risk assessment
- 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
Biospecimen Retention: Samples With DNA
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03375359
|Contact: Karl-Oliver Kagan, Prof.||+49 7071 email@example.com|
|Contact: Markus Hoopmann, PD||+49 7071 firstname.lastname@example.org|
|University Hospital Tuebingen, Department of Women's Health||Recruiting|
|Tuebingen, Germany, 72076|
|Contact: Miriam Linneweh, Dr +4970712982211 email@example.com|
|Principal Investigator:||Karl-Oliver Kagan, Prof.||University Hospital Tuebingen, Department of Women's Health|