Trisomy 21 Clinical Trial
— ISETTRI21Official title:
Clinical Validation of the ISET Method for the Non Invasive Prenatal Diagnosis of Trisomy 21 by Genetic Analysis of Circulating Trophoblastic Cells
Verified date | June 2021 |
Source | Assistance Publique - Hôpitaux de Paris |
Contact | n/a |
Is FDA regulated | No |
Health authority | |
Study type | Interventional |
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.
Status | Active, not recruiting |
Enrollment | 150 |
Est. completion date | December 31, 2021 |
Est. primary completion date | March 31, 2017 |
Accepts healthy volunteers | No |
Gender | All |
Age group | 18 Years and older |
Eligibility | Inclusion Criteria: - Pregnant women older than 18 years old - Pregnant women followed at a prenatal diagnostic centre - Pregnant woman having a risk (> 1/250) of trisomy 21 based on the combined screening "serological tests/nuchal ultrasonography " - Sample of blood and cervical smear obtained between the 8th and the 10th WG - Pregnant women accepting an invasive prenatal diagnosis - Father of the child agreeing to participate in the clinical study (accepting to give a saliva sample) - Pregnant women beneficiary of a national insurance program - Pregnant women and fathers signing an informed consent Exclusion Criteria: - Pregnant women with combined risk of trisomy 21 < 1/250 - Pregnant women non accepting the invasive prenatal diagnosis - Pregnant women participating another clinical study |
Country | Name | City | State |
---|---|---|---|
France | Hopital de Béclère | Clamart |
Lead Sponsor | Collaborator |
---|---|
Assistance Publique - Hôpitaux de Paris | Institut National de la Santé Et de la Recherche Médicale, France, Rarecells, University of Paris 5 - Rene Descartes |
France,
Béroud C, Karliova M, Bonnefont JP, Benachi A, Munnich A, Dumez Y, Lacour B, Paterlini-Bréchot P. Prenatal diagnosis of spinal muscular atrophy by genetic analysis of circulating fetal cells. Lancet. 2003 Mar 22;361(9362):1013-4. — View Citation
Bianchi DW, Simpson JL, Jackson LG, Elias S, Holzgreve W, Evans MI, Dukes KA, Sullivan LM, Klinger KW, Bischoff FZ, Hahn S, Johnson KL, Lewis D, Wapner RJ, de la Cruz F. Fetal gender and aneuploidy detection using fetal cells in maternal blood: analysis of NIFTY I data. National Institute of Child Health and Development Fetal Cell Isolation Study. Prenat Diagn. 2002 Jul;22(7):609-15. — View Citation
Saker A, Benachi A, Bonnefont JP, Munnich A, Dumez Y, Lacour B, Paterlini-Brechot P. Genetic characterisation of circulating fetal cells allows non-invasive prenatal diagnosis of cystic fibrosis. Prenat Diagn. 2006 Oct;26(10):906-16. — View Citation
Vona G, Béroud C, Benachi A, Quenette A, Bonnefont JP, Romana S, Dumez Y, Lacour B, Paterlini-Bréchot P. Enrichment, immunomorphological, and genetic characterization of fetal cells circulating in maternal blood. Am J Pathol. 2002 Jan;160(1):51-8. — View Citation
Vona G, Sabile A, Louha M, Sitruk V, Romana S, Schütze K, Capron F, Franco D, Pazzagli M, Vekemans M, Lacour B, Bréchot C, Paterlini-Bréchot P. Isolation by size of epithelial tumor cells : a new method for the immunomorphological and molecular characterization of circulatingtumor cells. Am J Pathol. 2000 Jan;156(1):57-63. — View Citation
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | non-invasive method of PND of Trisomy 21. | Clinical validation of a non-invasive method of PND of Trisomy 21. | 9 months |
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