Ignite Creation Date:
2025-12-24 @ 3:05 PM
Ignite Modification Date:
2026-01-22 @ 8:07 AM
Study NCT ID:
NCT03375359
Status:
UNKNOWN
Last Update Posted:
2022-01-12
First Post:
2017-12-12
Is Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
First Trimester Screening for Trisomy 21, 18, 13 and 22q11.2 Deletion Syndrome
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'interventionBrowseModule': {'meshes': [{'id': 'D000081182', 'term': 'Noninvasive Prenatal Testing'}], 'ancestors': [{'id': 'D000073890', 'term': 'Liquid Biopsy'}, {'id': 'D001706', 'term': 'Biopsy'}, {'id': 'D003581', 'term': 'Cytodiagnosis'}, {'id': 'D003584', 'term': 'Cytological Techniques'}, {'id': 'D019411', 'term': 'Clinical Laboratory Techniques'}, {'id': 'D019937', 'term': 'Diagnostic Techniques and Procedures'}, {'id': 'D003933', 'term': 'Diagnosis'}, {'id': 'D005820', 'term': 'Genetic Testing'}, {'id': 'D013048', 'term': 'Specimen Handling'}, {'id': 'D011296', 'term': 'Prenatal Diagnosis'}, {'id': 'D003944', 'term': 'Diagnostic Techniques, Obstetrical and Gynecological'}, {'id': 'D008919', 'term': 'Investigative Techniques'}, {'id': 'D005821', 'term': 'Genetic Techniques'}, {'id': 'D033142', 'term': 'Genetic Services'}, {'id': 'D006296', 'term': 'Health Services'}, {'id': 'D005159', 'term': 'Health Care Facilities Workforce and Services'}, {'id': 'D003954', 'term': 'Diagnostic Services'}, {'id': 'D011314', 'term': 'Preventive Health Services'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'blood samples'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'CASE_ONLY'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 1000}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'UNKNOWN', 'lastKnownStatus': 'RECRUITING', 'startDateStruct': {'date': '2018-01-08', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2022-01', 'completionDateStruct': {'date': '2022-08-31', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2022-01-11', 'studyFirstSubmitDate': '2017-12-12', 'studyFirstSubmitQcDate': '2017-12-12', 'lastUpdatePostDateStruct': {'date': '2022-01-12', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2017-12-18', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2022-08-31', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Screen positive rate', 'timeFrame': '15 month', 'description': 'Screen-positive rate will be calculated by proportion of high risk results compared to all cfDNA tests performed'}, {'measure': 'Screen false-positive rate', 'timeFrame': '15 month', 'description': 'False-positive rate will be calculated by proportion of high risk results compared to all cfDNA tests performed in pregnancies with a normal offspring'}, {'measure': 'Uninformative test rate in cfDNA screening for 22q11.2 deletion', 'timeFrame': '15 month', 'description': 'Rate of uninformative tests will be defined by proportion of cfDNA screening for 22q11.2 deletion without results compared to all cfDNA tests performed'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'conditions': ['Pregnancy']}, 'descriptionModule': {'briefSummary': '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.\n\nIn 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.'}, 'eligibilityModule': {'sex': 'FEMALE', 'stdAges': ['ADULT', 'OLDER_ADULT'], 'minimumAge': '18 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': "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", 'healthyVolunteers': True, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Maternal age of 18 years and more\n* Crown rump length 45 - 84mm\n* Referral for first trimester risk assessment\n* Singleton pregnancy\n* Written consent\n\nExclusion Criteria:\n\n* No consent\n* Known parental microdeletion 22q11.2\n* Crown rump length \\<45mm or \\>84mm\n* Multiple pregnancies including vanishing twins'}, 'identificationModule': {'nctId': 'NCT03375359', 'acronym': 'ReFaPo02', 'briefTitle': 'First Trimester Screening for Trisomy 21, 18, 13 and 22q11.2 Deletion Syndrome', 'organization': {'class': 'OTHER', 'fullName': 'University Hospital Tuebingen'}, 'officialTitle': 'First Trimester Screening for Trisomy 21, 18, 13 and 22q11.2 Deletion Syndrome - ReFaPo02', 'orgStudyIdInfo': {'id': 'PerFet_ReFaPo02'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'cfDNA screening', 'description': "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.", 'interventionNames': ['Diagnostic Test: cfDNA screening']}], 'interventions': [{'name': 'cfDNA screening', 'type': 'DIAGNOSTIC_TEST', 'description': 'cfDNA screening test for aneuploidy risk assessment', 'armGroupLabels': ['cfDNA screening']}]}, 'contactsLocationsModule': {'locations': [{'zip': '72076', 'city': 'Tübingen', 'status': 'RECRUITING', 'country': 'Germany', 'contacts': [{'name': 'Miriam Linneweh, Dr', 'role': 'CONTACT', 'email': 'miriam.linneweh@med.uni-tuebingen.de', 'phone': '+4970712982211'}], 'facility': "University Hospital Tuebingen, Department of Women's Health", 'geoPoint': {'lat': 48.52266, 'lon': 9.05222}}], 'centralContacts': [{'name': 'Karl-Oliver Kagan, Prof.', 'role': 'CONTACT', 'email': 'karl.kagan@med.uni-tuebingen.de', 'phone': '+49 7071 29-82211'}, {'name': 'Markus Hoopmann, PD', 'role': 'CONTACT', 'email': 'markus.hoopmann@med.uni-tuebingen.de', 'phone': '+49 7071 29-82211'}], 'overallOfficials': [{'name': 'Karl-Oliver Kagan, Prof.', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': "University Hospital Tuebingen, Department of Women's Health"}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'University Hospital Tuebingen', 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR'}}}}