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

January 11, 2022 updated by: University Hospital Tuebingen

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

Status

Recruiting

Conditions

Intervention / Treatment

Study Type

Observational

Enrollment (Anticipated)

1000

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

      • Tuebingen, Germany, 72076
        • Recruiting
        • University Hospital Tuebingen, Department of Women's Health

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

Female

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

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

This section provides details of the study plan, including how the study is designed and what the study is measuring.

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

This is where you will find people and organizations involved with this study.

Investigators

  • Principal Investigator: Karl-Oliver Kagan, Prof., University Hospital Tuebingen, Department of Women's Health

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

January 8, 2018

Primary Completion (Anticipated)

August 31, 2022

Study Completion (Anticipated)

August 31, 2022

Study Registration Dates

First Submitted

December 12, 2017

First Submitted That Met QC Criteria

December 12, 2017

First Posted (Actual)

December 18, 2017

Study Record Updates

Last Update Posted (Actual)

January 12, 2022

Last Update Submitted That Met QC Criteria

January 11, 2022

Last Verified

January 1, 2022

More Information

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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