Clinical Trial: Diagnosis Accuracy of Noninvasive Screening by PCR Digital for Down Syndrom

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

Official Title: Diagnosis Accuracy of Noninvasive Screening by PCR Digital for Down Syndrom

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).

Detailed Summary:

Context

Currently, non-invasive screening test for trisomy 21 (Down syndrome) is proposed to every pregnant woman. This first trimester combined test consists of ultrasound nuchal translucency measurement, associated with different maternal serum biochemical assay and maternal age.

Since the discovery of the presence of cell-free fetal DNA in maternal plasma, the noninvasive prenatal testing (NIPT), using mainly a massive parallel sequencing (MPS) approach, has been introduced. The chromosomal origin of each sequenced plasma DNA molecule and the over- or under-representation of any chromosome can be identified by MPS in maternal plasma. The specificity and sensibility of such high-throughput techniques are excellent, close to 100 %. However, MPS remains time-consuming, very expensive (> 1000 euros per patient) and can't be used in clinical routine in most genetics laboratories worldwide.

Digital PCR represents an interesting alternative to the MPS due to its targeted approach, cost (>10x less than MPS), speed and relative simplicity allowing a clinical routine practice. However, its clinical an analytical relevance remains insufficiently demonstrated in literature data . Therefore, our main objective is to evaluate the diagnosis accuracy of noninvasive screening by PCR digital for Down syndrome.

Expected results This study will assess the sensitivity, specificity and likelihood ratio with a satisfactory accuracy. The no call rate will be also evaluated and considered as a positive test.

The optimal number of replicates (leading to a false positive rate <5%) will be determined using a ROC curve. Our hypothesis is that the sensitivity of the screening test will be uppe
Sponsor: University Hospital, Grenoble

Current Primary Outcome: 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) [ Time Frame: 24 months ]

Original Primary Outcome: Same as current

Current Secondary Outcome:

Original Secondary Outcome:

Information By: University Hospital, Grenoble

Dates:
Date Received: August 16, 2016
Date Started: August 2015
Date Completion: July 2017
Last Updated: August 16, 2016
Last Verified: August 2016