Diagnosis Accuracy of Noninvasive Screening by PCR Digital for Down Syndrom

NCT02872948 | Completed

• 1 other identifier: 38RC14.185
• Study Type: observational
• Target: 1,260
• Locations: 1 country
• Sites: 1

Brief Summary

The main objective of this study is to estimate the intrinsic diagnostic qualities of the digital dPCR in the screening of T21 from a multicentrique sample of patients with pregnancies at high risk of T21 (risk \> 1/250). The profit expected from this technique is to propose to the encircled women a screening more successful than that of the screening combined(organized) of the 1st quarter, simple of realization and in a moderate cost. We thus propose here an original alternative(alternate) method to the exclusive, expensive and binding techniques of top-debit(-flow). The recent technical improvements and his(her,its) advantages medical - economic allow to envisage a reliable, strong and long-lasting use of the dPCR in clinical routine in the DPNI of T21 in most of the laboratories. This pilot project could serve for the later development of a study of clinical validation multicentrique of large scale(big turntable ladder).

Conditions

Trisomy 21

Keywords

Non invasive prenatal testing; Down Syndrome; Digital PCR

Outcome Measures

Primary Outcomes (1)

• Intrinsic diagnostic qualities of the digital dPCR in the screening of T21 from a sample multicentrique of patients with pregnancies at high risk of T21 (risk > 1/250)

  The main criterion is the estimation of the intrinsic qualities of the dPCR in the screening of T21. The sensibility of the screening will be favored and the reserved value will be the one giving a rate of acceptable positive forgery fixed to 5 %.

  24 months

Study Arms (2)

70 euploïdes foeti samples

Patients with foetus euploïde ("no sick")

Genetic: Diagnostic

30 trisomies 21 samples

Patients with foetus reached(affected) by trisomy 21 ("sick")

Genetic: Diagnostic

Interventions

Diagnostic GENETIC

30 trisomies 21 samples; 70 euploïdes foeti samples

Eligibility Criteria

• Age: 18 Years - 45 Years
• Sex: female
• Healthy Volunteers: No
• Age Groups: Adult (18-64)
• Sampling Method: Probability Sample

Study Population

Sample multicentrique of patients with pregnancies at high risk of T21 (risk \> 1/250)

You may qualify if:

• major Patients
• unique(only) Pregnancies
• Screening combined(organized) by the 1st quarter of the trisomy 21 with risk \> 1/250
• Patients wishing to realize a foetal taking with diagnostic aim
• Sent in maternity(maternity hospital) for this taking between 12 and 17 weeks of amenorrhea

You may not qualify if:

• Patient refusing to participate
• no Patient beneficiary of the Social Security or other diet
• Private person of freedom

Sponsors & Collaborators

• University Hospital, Grenoble: lead

Study Sites (1)

Hospital center

Grenoble, 38043, France

Location

Related Publications (5)

• Cans C, Amblard F, Devillard F, Pison H, Jalbert P, Jouk PS. Population screening for aneuploidy using maternal age and ultrasound. Prenat Diagn. 1998 Jul;18(7):683-92.

  PMID: 9706649 BACKGROUND

• Coutton C, Abada F, Karaouzene T, Sanlaville D, Satre V, Lunardi J, Jouk PS, Arnoult C, Thierry-Mieg N, Ray PF. Fine characterisation of a recombination hotspot at the DPY19L2 locus and resolution of the paradoxical excess of duplications over deletions in the general population. PLoS Genet. 2013 Mar;9(3):e1003363. doi: 10.1371/journal.pgen.1003363. Epub 2013 Mar 21.

  PMID: 23555282 RESULT

• Nadeau G, Coutton C, Amblard F, Michalowicz G, Frasca S, Fertin A, Devillard F, Satre V, Usson Y, Jouk PS. Interphase fluorescent in situ hybridization detection of the 7q11.23 chromosomal inversion in a clinical laboratory: automated versus manual scoring. Clin Chem Lab Med. 2013 Apr;51(4):e41-4. doi: 10.1515/cclm-2012-0416. No abstract available.

  PMID: 23072851 RESULT

• Coutton C, Bidart M, Rendu J, Devillard F, Vieville G, Amblard F, Lopez G, Jouk PS, Satre V. 190-kb duplication in 1p36.11 including PIGV and ARID1A genes in a girl with intellectual disability and hexadactyly. Clin Genet. 2013 Dec;84(6):596-9. doi: 10.1111/cge.12113. Epub 2013 Mar 25. No abstract available.

  PMID: 23521658 RESULT

• Ben Khelifa M, Coutton C, Zouari R, Karaouzene T, Rendu J, Bidart M, Yassine S, Pierre V, Delaroche J, Hennebicq S, Grunwald D, Escalier D, Pernet-Gallay K, Jouk PS, Thierry-Mieg N, Toure A, Arnoult C, Ray PF. Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella. Am J Hum Genet. 2014 Jan 2;94(1):95-104. doi: 10.1016/j.ajhg.2013.11.017. Epub 2013 Dec 19.

  PMID: 24360805 RESULT

Biospecimen

Retention: SAMPLES WITH DNA

It is DNA samples of 100 pregnancies including 70 euploïdes foeti and 30 trisomies 21, the diagnosis of which will beforehand have been made by the foetal karyotype.

MeSH Terms

Conditions

Down Syndrome

Condition Hierarchy (Ancestors)

Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Chromosome Disorders; Genetic Diseases, Inborn

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 16, 2016
• First Posted: August 19, 2016
• Study Start: August 1, 2015
• Primary Completion: February 1, 2017
• Study Completion: July 1, 2017
• Last Updated: November 1, 2021

Record last verified: 2021-10

Locations

FR (1)