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

Overview

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.

Full Title of Study: “First Trimester Screening for Trisomy 21, 18, 13 and 22q11.2 Deletion Syndrome – ReFaPo02”

Study Type

  • Study Type: Observational
  • Study Design
    • Time Perspective: Prospective
  • Study Primary Completion Date: December 31, 2020

Interventions

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

Arms, Groups and Cohorts

  • 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.

Clinical Trial Outcome Measures

Primary Measures

  • 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

Participating in This Clinical Trial

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

Gender Eligibility: Female

Minimum Age: 18 Years

Maximum Age: N/A

Are Healthy Volunteers Accepted: Accepts Healthy Volunteers

Investigator Details

  • Lead Sponsor
    • University Hospital Tuebingen
  • Provider of Information About this Clinical Study
    • Sponsor
  • Overall Official(s)
    • Karl-Oliver Kagan, Prof., Principal Investigator, University Hospital Tuebingen, Department of Women’s Health
  • Overall Contact(s)
    • Karl-Oliver Kagan, Prof., +49 7071 29-82211, karl.kagan@med.uni-tuebingen.de

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