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Non Invasive Prenatal Diagnosis of Trisomy 21 by Genetic Analysis of Circulating Fetal Cells

NCT01725438 · Status: COMPLETED · Phase: NA · Type: INTERVENTIONAL · Enrollment: 150

Last updated 2026-04-03

No results posted yet for this study

Summary

The objective of this project is to develop a non-invasive prenatal diagnostic test for trisomy 21 which is reliable, sensitive and cost-effective, and thus, offers an alternative to the currently employed invasive diagnostic tests amniocentesis and chorionic villus sampling.

Current prenatal screening methods (blood markers and ultrasound) for trisomy 21 (Down syndrome) detect about 90 % of cases and have a false positive rate of \> 90 %. The results of these tests are expressed in risks for trisomy 21, the threshold being in France at 1/250. Women exhibiting a higher risk are offered to undergo invasive diagnostic testing, either by amniocentesis or chorionic villus sampling. However, these invasive diagnostic methods are associated with a considerable risk of miscarriage (1-3 %), and thus underline the importance to develop a safe and non-invasive prenatal diagnostic test for trisomy 21. The investigators have planned to assess the clinical impact of a non-invasive prenatal method to detect Trisomy 21 through genetic analysis of circulating trophoblastic cells.

Conditions

  • Trisomy 21

Interventions

OTHER

sample blood

Sponsors & Collaborators

  • Institut National de la Santé Et de la Recherche Médicale, France

    collaborator OTHER_GOV

  • Rarecells

    collaborator INDUSTRY

  • University of Paris 5 - Rene Descartes

    collaborator OTHER

  • URC-CIC Paris Descartes Necker Cochin

    collaborator OTHER

  • Assistance Publique - Hôpitaux de Paris

    lead OTHER

Principal Investigators

  • Patrizia Paterlini-Bréchot, MD, PhD · Necker Enfants Malades Hospital

Study Design

Allocation
NA
Purpose
DIAGNOSTIC
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2012-06-19
Primary Completion
2017-03-31
Completion
2021-12-31

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01725438 on ClinicalTrials.gov