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

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

UNKNOWN

Total Enrollment

1000 participants

Study Classification

OBSERVATIONAL

Study Start Date

2018-01-08

Study Completion Date

2022-08-31

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

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.

Related Clinical Trials

Explore similar clinical trials based on study characteristics and research focus.

T21,18 and 13 Screening by Cell Free Fetal DNA in Low Risk Patients

NCT02424474

Trisomy 21, 18 and 13 Screening

COMPLETED NA

First Trimester Risk Assessment Based on Ultrasound and Cell-free DNA vs Combined Screening

NCT04077060

Aneuploidy

COMPLETED NA

Trisomy of Chromosome 21 Diagnosis by High Output Sequencing

NCT01118507

Trisomy 21 - Translocation

COMPLETED

Early Ultrasound and Maternal Biochemical Markers to Evaluate the Risk of Down Syndrome During the First Trimester

NCT00287417

Down Syndrome

COMPLETED

Non-invasive Chromosomal Examination of Trisomy Study

NCT01511458

Trisomy 21

COMPLETED

Detailed Description

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

Conditions

See the medical conditions and disease areas that this research is targeting or investigating.

Pregnancy

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Observational Model Type

CASE_ONLY

Study Time Perspective

PROSPECTIVE

Study Groups

Review each arm or cohort in the study, along with the interventions and objectives associated with them.

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

Intervention Type DIAGNOSTIC_TEST

cfDNA screening test for aneuploidy risk assessment

Interventions

Learn about the drugs, procedures, or behavioral strategies being tested and how they are applied within this trial.

cfDNA screening

cfDNA screening test for aneuploidy risk assessment

Intervention Type DIAGNOSTIC_TEST

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

Inclusion Criteria

* Maternal age of 18 years and more
* Crown rump length 45 - 84mm
* Referral for first trimester risk assessment
* Singleton pregnancy
* Written consent