Clinical Trials Logo

Clinical Trial Details — Status: Terminated

Administrative data

NCT number NCT03687866
Other study ID # 14-048
Secondary ID
Status Terminated
Phase
First received
Last updated
Start date January 2013
Est. completion date December 2018

Study information

Verified date November 2017
Source University Hospital, Caen
Contact n/a
Is FDA regulated No
Health authority
Study type Observational

Clinical Trial Summary

In France, as in many countries of the world, trisomy 21 or Down syndrome (DS) is the subject of an antenatal screening based on a risk calculation (R) including the assay of biochemical markers in the maternal blood, and the measurement of a fetal ultrasound parameter (nuchal translucency). In the population of pregnant women said to be at high risk (R> 1/250), confirmation of the diagnosis of DS is made by invasive sampling (trophoblast biopsy or amniocentesis), which allows the establishment of fetal karyotype. In addition to limited sensitivity (80 to 85% depending on the techniques), this screening is an anxiety factor (8% false positives), and miscarriages of euploid fetuses (normal karyotype) in 1% of cases (procedures invasive). The plasma of a pregnant woman contains a mixture of free DNA of maternal (90%) and fetal origin (cffDNA for cell free fetal DNA) (about 10%, but this proportion increases in cases of fetal trisomy 21. The proportion of cffDNA is sufficient to qualitatively and quantitatively study specific genetic markers of a pair of chromosomes. It is therefore possible to evaluate the quantity of markers chromosome of interest relative to a reference chromosome marker, and to calculate a marker / marker ratio of interest, theoretically identical for all autosomes (chromosomes 1 to 22) during euploid pregnancy. In case of fetal aneuploidy (for example, trisomy 21), this ratio is unbalanced for the chromosomal pair involved. Advances in technology, such as high-throughput mass sequencing (MPS) and digital PCR (dPCR), now make it possible to consider the diagnosis of fetal maternal DS through the study of cffDNA. Several teams have already published on this subject with the MPS technique, applied directly to free DNA from maternal plasma, or after a cffDNA isolation step. This involves sequencing the DNA fragments present in the sample and placing them back on their original chromosome. In case of trisomy 21 fetal, one seeks to put in evidence of an excess of sequences from chromosome 21. These techniques require expensive equipment (sequencer, bioinformatic platform, servers) and a technical time and important analysis (often several days for a single run). Concerning the research of aneuploidies by digital PCR (dPCR), few publications are today due to the absence of sufficiently powerful instruments until recently. DPCR is less expensive.


Recruitment information / eligibility

Status Terminated
Enrollment 776
Est. completion date December 2018
Est. primary completion date September 2015
Accepts healthy volunteers Accepts Healthy Volunteers
Gender Female
Age group 18 Years and older
Eligibility Inclusion Criteria: - Women with high risk of fetal trisomy 21 with maternal screening test, who benefited of invasive sampling Exclusion Criteria: - women with twin pregnancies - pregnancies with other chromosomal abnormalities

Study Design


Related Conditions & MeSH terms


Intervention

Genetic:
non invasive prenatal testing


Locations

Country Name City State
France Arnaud Molin Caen

Sponsors (1)

Lead Sponsor Collaborator
University Hospital, Caen

Country where clinical trial is conducted

France, 

Outcome

Type Measure Description Time frame Safety issue
Primary feasibility of non invasive prenatal testing with digital PCR 3 years
See also
  Status Clinical Trial Phase
Completed NCT02109770 - Development of Non-invasive Prenatal Test for Microdeletion and Other Genetic Syndromes Based on Cell Free DNA
Completed NCT01925742 - Study of the Efficacy of New Non-invasive Prenatal Tests for Screening for Fetal Trisomies Using Maternal Blood N/A
Completed NCT01852708 - Development of Non-invasive Prenatal Screening Test for Microdeletions Based on Fetal DNA Isolated From Maternal Blood
Recruiting NCT05527652 - Self-Supporting Nasopharyngeal Airway (ssNPA) Treating Upper Airway Obstruction in Hypotonia N/A
Completed NCT02278536 - Multiple Gestation Study
Completed NCT01511458 - Non-invasive Chromosomal Examination of Trisomy Study N/A
Not yet recruiting NCT05970965 - Periodontitis and Inflammation in Children With Down Syndrome/Trisomy 21: Study on Biological Samples N/A
Terminated NCT03551418 - Learning by Repetitive Viewing of Peer Modeling Patient Education Videos by Adults With Down Syndrome N/A
Completed NCT01966991 - Prenatal Screening for Down Syndrome With DNAFirst N/A
Enrolling by invitation NCT03559374 - Study of Vanadis® NIPT for Non-invasive Prenatal Screening of Trisomies (T21, T18 and T13)
Active, not recruiting NCT01725438 - Non Invasive Prenatal Diagnosis of Trisomy 21 by Genetic Analysis of Circulating Fetal Cells N/A
Active, not recruiting NCT05981521 - Paternal Age and Fetal Aneuploidy
Completed NCT05004337 - Verification of Risk Assignment for Whole Chromosome Using SNP-based NIPT in Vanishing Twin Pregnancies
Recruiting NCT02864108 - The Crnic Institute Human Trisome Project Biobank
Completed NCT01931644 - At-Home Research Study for Patients With Autoimmune, Inflammatory, Genetic, Hematological, Infectious, Neurological, CNS, Oncological, Respiratory, Metabolic Conditions
Not yet recruiting NCT06200519 - Assessment of Diastolic Function During the Transitional Period and Infancy Using Serial Echocardiography
Terminated NCT01545674 - Prenatal Non-invasive Aneuploidy Test Utilizing SNPs Trial
Terminated NCT04747275 - Use of Liquid Stable Levothyroxine in Trisomy 21 Pediatric Patients Phase 4
Completed NCT01821300 - Down Syndrome Metabolic Health Study
Completed NCT00877292 - A New Prenatal Blood Test for Down Syndrome N/A