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First Trimester Screening for Trisomy 21, 18, 13 and 22q11.2 Deletion Syndrome (ReFaPo02)

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ClinicalTrials.gov Identifier: NCT03375359
Recruitment Status : Recruiting
First Posted : December 18, 2017
Last Update Posted : January 9, 2018
Sponsor:
Information provided by (Responsible Party):
University Hospital Tuebingen

Brief 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.

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
Observational Model: Case-Only
Time Perspective: Prospective
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


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.
Diagnostic Test: cfDNA screening
cfDNA screening test for aneuploidy risk assessment




Primary Outcome Measures :
  1. 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

  2. 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

  3. 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
blood samples


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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   Female
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
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
Criteria

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

Information from the National Library of Medicine

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


Contacts
Contact: Karl-Oliver Kagan, Prof. +49 7071 29-82211 karl.kagan@med.uni-tuebingen.de
Contact: Markus Hoopmann, PD +49 7071 29-82211 markus.hoopmann@med.uni-tuebingen.de

Locations
Germany
University Hospital Tuebingen, Department of Women's Health Recruiting
Tuebingen, Germany, 72076
Contact: Miriam Linneweh, Dr    +4970712982211    miriam.linneweh@med.uni-tuebingen.de   
Sponsors and Collaborators
University Hospital Tuebingen
Investigators
Principal Investigator: Karl-Oliver Kagan, Prof. University Hospital Tuebingen, Department of Women's Health

Responsible Party: University Hospital Tuebingen
ClinicalTrials.gov Identifier: NCT03375359     History of Changes
Other Study ID Numbers: PerFet_ReFaPo02
First Posted: December 18, 2017    Key Record Dates
Last Update Posted: January 9, 2018
Last Verified: December 2017

Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Additional relevant MeSH terms:
Intellectual Disability
Trisomy
Down Syndrome
DiGeorge Syndrome
Aneuploidy
Chromosome Aberrations
Pathologic Processes
Chromosome Duplication
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Abnormalities, Multiple
Congenital Abnormalities
Chromosome Disorders
Genetic Diseases, Inborn
22q11 Deletion Syndrome
Craniofacial Abnormalities
Musculoskeletal Abnormalities
Musculoskeletal Diseases
Heart Defects, Congenital
Cardiovascular Abnormalities
Cardiovascular Diseases
Heart Diseases
Lymphatic Abnormalities
Lymphatic Diseases
Hypoparathyroidism
Parathyroid Diseases
Endocrine System Diseases