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Completed

NCT Number: NCT03375359

Reducing False Positives in Prenatal Screening

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.

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Key information

Conditions

Pregnancy

Age range

18 year and older

Sex eligibility

Female

Study type

Observational

Primary location

University Hospital Tuebingen, Department of Women's Health

Tübingen, 72076, Germany

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

cfDNA screening

Diagnostic Test

cfDNA screening test for aneuploidy risk assessment

Primary outcomes

  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

Sponsors and collaborators

Lead sponsor

University Hospital Tuebingen

Other

Registry information

Official study title

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

Acronym: ReFaPo02

Important dates

Study start
2018
Primary completion
2019
Study completion
2019
First posted
Dec 18, 2017
Registry last updated
Jan 26, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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