NIPD of CFTC by WGA Coupled to Mini-exome Sequencing

NCT03743948 | Terminated

• 1 other identifier: RECHMPL18_0281
• Study Type: interventional
• Target: 18
• Locations: 1 country
• Sites: 1

Brief Summary

The purprose of this study is to develop a single test based on circulating fetal trophoblastic cells (CFTC) analysis from maternal blood, searching for the familial mutation for a wide range of monogenic diseases.

Conditions

Monogenic Diseases

Keywords

Non Invasive Prenatal Diagnosis; Circulating Fetal Trophoblastic Cells; monogenic disease

Outcome Measures

Primary Outcomes (1)

• Concordance rate between cell-based genetic non invasive prenatal test and gold standard prenatal test (choriocentesis or amniocentesis).

  Analysis of the concordance of the prenatal results obtained by our new NIPD (Non-Invasive Prenatal Diagnosis) approach and those blindly obtained during the gold-standard prenatal genetic test will be carried out for each pregnant woman participating in the study.

  at 36 month

Secondary Outcomes (1)

• Non Invasive Prenatal Diagnostic test failure rate.

  at 36 month

Study Arms (1)

Expectant couple at risk of transmitting a monogenic disease.

EXPERIMENTAL

Expectant couple (pregnant woman from 9 weeks of gestation and spouse) at risk of transmitting a monogenic disease among the genes included in the trusight one expanded sequencing kit (Illumina).

Genetic: Non invasive prenatal diagnosis

Interventions

Non invasive prenatal diagnosis GENETIC

15 pregnant women and their spouses Search for the familial mutation on isolated circulating fetal trophoblastic cells from maternal blood

Expectant couple at risk of transmitting a monogenic disease.

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• older than 18 years old
• pregnant woman between 9 and 34 weeks of gestation
• Couple undergoing prenatal diagnosis for a monogenic disease caused by point mutation(s)
• Written informed consent was obtained for the study
• Prenatal diagnosis has been programmed for the current pregnancy during which maternal blood is collected
• Couple molecular diagnosis results for a monogenic disease caused by point mutation(s) MUST BE AVAILABLE.

You may not qualify if:

• Couple Genomic DNA are unavailable
• Subjects at risk of transmitting the family disease, but not wishing to know their molecular status
• Individuals under guardianship by court order

Sponsors & Collaborators

• University Hospital, Montpellier: lead
• ABM Industries: collaborator

Study Sites (1)

INSERM-Hospital,

Montpellier, Herault, 34295, France

Location

Related Publications (1)

• Cayrefourcq L, Vincent MC, Pierredon S, Moutou C, Imbert-Bouteille M, Haquet E, Puechberty J, Willems M, Liautard-Haag C, Molinari N, Zordan C, Dorian V, Rooryck-Thambo C, Goizet C, Chaussenot A, Rouzier C, Boureau-Wirth A, Monteil L, Calvas P, Miry C, Favre R, Petrov Y, Khau Van Kien P, Le Boette E, Fradin M, Alix-Panabieres C, Guissart C. Single Circulating Fetal Trophoblastic Cells Eligible for Non Invasive Prenatal Diagnosis: the Exception Rather than the Rule. Sci Rep. 2020 Jun 17;10(1):9861. doi: 10.1038/s41598-020-66923-9.

  PMID: 32555262 RESULT

Study Officials

• Claire Guissart, PhD-PharmD

  molecular genetics

  PRINCIPAL INVESTIGATOR

Study Design

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

Study Record Dates

• First Submitted: November 8, 2018
• First Posted: November 16, 2018
• Study Start: December 19, 2018
• Primary Completion: August 27, 2019
• Study Completion: August 27, 2019
• Last Updated: June 12, 2026

Record last verified: 2026-06

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)