ADN Fœtal Circulant, Grossesse et Pathologies Malignes

NCT07448025 | Enrolling By Invitation

• 2 other identifiers: APHP2403602024-A01203-44
• Study Type: observational
• Target: 300
• Locations: 1 country
• Sites: 1

Brief Summary

In France in 2021, 90% of pregnant women chose to undergo screening for Trisomy 21, and 128,958 women benefited from a fetal aneuploidy screening test based on the analysis of cell-free DNA (cfDNA) in maternal blood. At the beginning of its use, this analysis was limited to screening for Trisomy 21, but it now allows the study of all chromosomes (expanded screening). More than half of fetal chromosomal abnormality screenings are expanded tests, and this practice continues to grow. In oncology, circulating tumor DNA (ctDNA) is studied for the detection, prognostic evaluation, and monitoring of the effectiveness of certain treatments. The high-throughput sequencing tools used for aneuploidy screening during pregnancy are likely to detect malignant diseases. Cancer is associated with pregnancy in 1 in 1,000 to 1 in 1,500 pregnant women, and the spread of expanded aneuploidy screening during pregnancy makes it possible to detect maternal cancers, including at infraclinical stages. This study will therefore help manage situations involving difficult-to-interpret results, such as suspected maternal cancer. It will make it possible to identify specific chromosomal abnormalities to be tested, which could potentially be included in future recommendations. In a second stage, it could contribute to harmonizing the practices of laboratory specialists performing fetal chromosomal abnormality screening using cfDNA.

Conditions

Femmes Enceintes; Cancer

Keywords

Oncologie; gynécologie

Outcome Measures

Primary Outcomes (1)

• The primary outcome measure is the presence of a chromosomal profile suggestive of a malignant disease (i.e., classification with a moderate or high probability).

  "The primary outcome measure is the presence of a chromosomal profile suggestive of a malignant disease (i.e., classification with a moderate or high probability). 1. Low probability: Chromosomal profile not suggestive of maternal malignant disease (no abnormality\* or 1 to 2 abnormalities suggestive of a translocation derivative or an inversion recombinant). 2. Moderate probability: Chromosomal profile moderately suggestive of maternal malignant disease (2 abnormalities\*). 3. High probability: Chromosomal profile strongly suggestive of maternal malignant disease (3 or more abnormalities\*). * An abnormality is defined as a trisomy, a monosomy, or a segmental imbalance greater than 7 Mb."

  32 months

Secondary Outcomes (3)

• The type of tissue of origin involved in the development of the malignant disease.

  32 MONTHS

• The stage of cancer development (according to the classification used for each type of cancer considered, e.g., TNM, FIGO, etc.)

  32 MONTHS

• The results of cytogenetic analyses of solid tumors or bone marrow biopsies that may have been performed during pregnancy

  32 MONTHS

Interventions

Collection of a sample GENETIC

Collection of a sample during a blood test carried out as part of routine care

Eligibility Criteria

• Age: 18 Years+
• Sex: female
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Cases: Pregnant patients with a cancer diagnosis known before pregnancy or discovered during pregnancy. The comparison data (controls) will be provided in a database that will be compiled progressively by the Cerba laboratory throughout the inclusion period of the case patients. In this database, data from pregnant patients who underwent a circulating cell-free DNA (cfDNA) test as part of routine care and who were free of any known cancer at the time of sampling for the cfDNA test will be identified.

You may qualify if:

• Adult patient (≥18 years old);
• Pregnant patient with a cancer known prior to pregnancy or diagnosed during pregnancy;
• Patient informed and having signed the informed consent form to participate in the study.

You may not qualify if:

• Multiple pregnancy;
• Patient with a history of organ transplantation; Patient having received an allogeneic stem cell transplant;
• Known maternal mosaic chromosomal abnormality and copy number variation (CNV);
• Technical inability to conduct a teleconsultation via a secure video connection and to complete an electronic signature.

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead

Study Sites (1)

APHP - Antoine Béclère hospital

Clamart, 94141, France

Location

Biospecimen

Retention: SAMPLES WITH DNA

Plasma-DNA

MeSH Terms

Conditions

Neoplasms

Study Officials

• Alexandre VIVANTI, MD, PHD

  Antoine Béclère Hospital

  PRINCIPAL INVESTIGATOR

• MAELIG ABGRAL, MD,MSc

  Antoine Béclère Hospital

  STUDY CHAIR

• LISE SELLERET, MD

  Tenon hospital - APHP

  STUDY CHAIR

• Anne-Gael CORDIER, MD,PhD

  Tenon hospital - APHP

  STUDY CHAIR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 26, 2026
• First Posted: March 4, 2026
• Study Start: April 15, 2026
• Primary Completion (Estimated): April 15, 2028
• Study Completion (Estimated): November 15, 2028
• Last Updated: April 23, 2026

Record last verified: 2026-02

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)