Non Invasive Prenatal Diagnosis of Trisomy 21 by Genetic Analysis of Circulating Fetal Cells

NCT01725438 | Unknown DMC

• 2 other identifiers: AOM10123P100118
• Study Type: interventional
• Target: 150
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Trisomy 21

Keywords

Circulating Trophoblastic Cells; Non-Invasive Prenatal Diagnosis; Genetic analysis; Trisomy 21; Down's Syndrome

Outcome Measures

Primary Outcomes (1)

• non-invasive method of PND of Trisomy 21.

  Clinical validation of a non-invasive method of PND of Trisomy 21.

  9 months

Study Arms (1)

Pregnant women accepting an invasive prenatal diagnosis

EXPERIMENTAL

Pregnant women accepting an invasive prenatal diagnosis and a sample blood (non invasive diagnosis)

Other: sample blood

Interventions

sample blood OTHER

Also known as: Non Invasive, Prenatal Diagnosis, Trisomy 21

Pregnant women accepting an invasive prenatal diagnosis

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• 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

You may not qualify if:

• Pregnant women with combined risk of trisomy 21 \< 1/250
• Pregnant women non accepting the invasive prenatal diagnosis
• Pregnant women participating another clinical study

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead
• Institut National de la Santé Et de la Recherche Médicale, France: collaborator
• Rarecells: collaborator
• University of Paris 5 - Rene Descartes: collaborator

Study Sites (1)

Hopital de Béclère

Clamart, 75014, France

Location

Related Publications (5)

• Vona G, Sabile A, Louha M, Sitruk V, Romana S, Schutze K, Capron F, Franco D, Pazzagli M, Vekemans M, Lacour B, Brechot C, Paterlini-Brechot 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. doi: 10.1016/S0002-9440(10)64706-2.

  PMID: 10623654 BACKGROUND

• Vona G, Beroud C, Benachi A, Quenette A, Bonnefont JP, Romana S, Dumez Y, Lacour B, Paterlini-Brechot P. Enrichment, immunomorphological, and genetic characterization of fetal cells circulating in maternal blood. Am J Pathol. 2002 Jan;160(1):51-8. doi: 10.1016/S0002-9440(10)64348-9.

  PMID: 11786398 BACKGROUND

• Beroud C, Karliova M, Bonnefont JP, Benachi A, Munnich A, Dumez Y, Lacour B, Paterlini-Brechot P. Prenatal diagnosis of spinal muscular atrophy by genetic analysis of circulating fetal cells. Lancet. 2003 Mar 22;361(9362):1013-4. doi: 10.1016/s0140-6736(03)12798-5.

  PMID: 12660061 BACKGROUND

• 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. doi: 10.1002/pd.1524.

  PMID: 16832834 BACKGROUND

• 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. doi: 10.1002/pd.347.

  PMID: 12124698 BACKGROUND

MeSH Terms

Conditions

Down Syndrome

Interventions

Noninvasive Ventilation; Noninvasive Prenatal Testing

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

Intervention Hierarchy (Ancestors)

Respiration, Artificial; Airway Management; Therapeutics; Respiratory Therapy; Liquid Biopsy; Biopsy; Cytodiagnosis; Cytological Techniques; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Genetic Testing; Specimen Handling; Prenatal Diagnosis; Diagnostic Techniques, Obstetrical and Gynecological; Investigative Techniques; Genetic Techniques; Genetic Services; Health Services; Health Care Facilities Workforce and Services; Diagnostic Services; Preventive Health Services

Study Officials

• Patrizia Paterlini-Bréchot, MD, PhD

  Necker Enfants Malades Hospital

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 8, 2012
• First Posted: November 12, 2012
• Study Start: June 19, 2012
• Primary Completion: March 31, 2017
• Study Completion: December 31, 2021
• Last Updated: July 7, 2021

Record last verified: 2021-06

Locations

FR (1)