- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT03687866
Non-invasive Screening of Fetal Trisomy 21 by Digital PCR (dPNI-T21)
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.
Study Overview
Status
Conditions
Intervention / Treatment
Study Type
Enrollment (Actual)
Contacts and Locations
Study Locations
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Caen, France, 14033
- Arnaud Molin
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Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Genders Eligible for Study
Sampling Method
Study Population
Description
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 Plan
How is the study designed?
Design Details
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Time Frame |
---|---|
feasibility of non invasive prenatal testing with digital PCR
Time Frame: 3 years
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3 years
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Collaborators and Investigators
Sponsor
Study record dates
Study Major Dates
Study Start (ACTUAL)
Primary Completion (ACTUAL)
Study Completion (ACTUAL)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (ACTUAL)
Study Record Updates
Last Update Posted (ACTUAL)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Keywords
Additional Relevant MeSH Terms
Other Study ID Numbers
- 14-048
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
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Clinical Trials on Trisomy 21
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Axis Shield Diagnostics LtdThe Clinical Trial CompanyCompletedTrisomy 21 in Fetus | Trisomy 18 in Fetus | Trisomy 13 in FetusUnited Kingdom
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University of PennsylvaniaSequenom, Inc/Laboratory Corporation of America HoldingsCompleted
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Assistance Publique - Hôpitaux de ParisCompletedTrisomy 21 - TranslocationFrance
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Assistance Publique - Hôpitaux de ParisCompletedTrisomy 21, 18 and 13 ScreeningFrance
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Natera, Inc.CompletedTrisomy 21 | Trisomy 18 | Trisomy 13 | Vanishing TwinUnited States
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Cindy CisnerosCompletedDown Syndrome | Aneuploidy | Trisomy 21 | Trisomy 18 | Trisomy 13United States
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CHU de Quebec-Universite LavalCanadian Institutes of Health Research (CIHR); Laval University; Genome British... and other collaboratorsCompletedTrisomy 21 | Trisomy 18 | Trisomy 13Canada
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PerkinElmer, Wallac OyAzienda Ospedaliera Città della Salute e della Scienza di TorinoUnknownTrisomy 21 | Trisomy 18 | Trisomy 13Italy
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Women and Infants Hospital of Rhode IslandNatera, Inc.CompletedTrisomy 21 | Trisomy 18 | Trisomy 13 | Monosomy XUnited States
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