Ultra-early Identification of Fetal Chromosomal Characteristics From Extravillous-trophoblast Cells (CellF-Cervix)

Demonstrate the efficacy of an ultra-early, non-invasive prenatal diagnostic method adaptable to various genetic indications to detect fetal chromosomal abnormalities.

Study Overview

• Status: Recruiting
• Conditions: Pregnant Women
• Intervention / Treatment: Procedure: Inclusion (Visit 1 - Week 7-16); Diagnostic test: Second semester of pregnancy (Visit 2 - Week 20-24); Diagnostic test: Third semester of pregnancy (Visit 3- Week 34)

Detailed Description

During pregnancy, biological screening for genetic diseases of the fetus cannot be implemented before the 11th week of amenorrhea whatever the technique used. This delay is long and distressing, particularly for people at high risk of transmission of genetic diseases. The presence of extravillous trophoblast cells to the cervix of the pregnant woman from the 7th week, accessible by a cervicovaginal smear non-invasive, represents new biological material representative of the fetal genome. This project aimed at evaluating the performance of a method for analyzing these trophoblast cells extra-villous at the start of pregnancy. The investigators want to evaluate performance analytical aspects of this method, that is to say, verifying that the genetic information resulting from these cells correspond to those of the fetus.

• Study Type: Observational
• Enrollment (Estimated): 25

Contacts and Locations

• Study Contact: Name: Vincent GATINOIS, MD; Phone Number: 0 67 33 68 66; Email: v-gatinois@chu-montpellier.fr

Study Locations

• France
  • France
    • Montpellier, France, France, 34295
      • Recruiting
      • CHU de Montpellier
      • Principal Investigator: Vincent GATINOIS, Dr

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: Yes

• Sampling Method: Non-Probability Sample

Study Population

Pregnant women with a priori genetic risk

Description

Inclusion Criteria:

• Pregnant woman
• Singleton pregnancy
• Pregnancy between 7 and 16 weeks of amenorrhea (WA)
• Woman ≥ 18 years
• Woman who has signed an informed consent
• Woman affiliated to social security or equivalent scheme

Exclusions Criteria:

• Person under guardianship or curatorship
• Person placed under legal protection
• Person unable to provide the participant with informed consent.

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort

Intervention / Treatment

Pregnant women; Women who are pregnant between 7 and 16 weeks of amenorrhea (WA)

Procedure: Inclusion (Visit 1 - Week 7-16); Extraction of cervico-vaginal sampling; Diagnostic test: Second semester of pregnancy (Visit 2 - Week 20-24); Ultrasound examination (determination of chromosomal sex); Diagnostic test: Third semester of pregnancy (Visit 3- Week 34); Ultrasound examination (determination of chromosomal sex) if this has not be done during the Visit 2 or if a new determination correcting the previous one is provided.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Establish an ultra-early detection method	Collect fetal phenotypic data obtained during the second or the 3rd trimester via ultrasound echography	Visit 2 (Week 20-24)

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Evaluate the ability of the method to provide a result in the context of a progressive pregnancy	Time (minutes) elapsed between sampling and biological validation of the result; Number of trophoblast cells identified; Failure rate: number of samples for which biological signals were not successful to determine the fetal chromosomal sex	Visit 2 (Week 20-24)
Expected benefit of ultra-early cytogenetic information	Evaluate the ability of the method to provide a rapid result and evaluate the impact of information about pregnant women	Visit 2 (Week 20-24)

Collaborators and Investigators

• Sponsor: University Hospital, Montpellier
• Investigators: Principal Investigator: Vincent GATINOIS, MD, University Hospital, Montpellier

Publications and helpful links

General Publications

• Drewlo S, Armant DR. Quo vadis, trophoblast? Exploring the new ways of an old cell lineage. Placenta. 2017 Dec;60 Suppl 1(Suppl 1):S27-S31. doi: 10.1016/j.placenta.2017.04.021. Epub 2017 Apr 26.
• Moser G, Drewlo S, Huppertz B, Armant DR. Trophoblast retrieval and isolation from the cervix: origins of cervical trophoblasts and their potential value for risk assessment of ongoing pregnancies. Hum Reprod Update. 2018 Jul 1;24(4):484-496. doi: 10.1093/humupd/dmy008.
• Bailey-Hytholt CM, Sayeed S, Kraus M, Joseph R, Shukla A, Tripathi A. A Rapid Method for Label-Free Enrichment of Rare Trophoblast Cells from Cervical Samples. Sci Rep. 2019 Aug 20;9(1):12115. doi: 10.1038/s41598-019-48346-3.
• Bolnick JM, Kilburn BA, Bajpayee S, Reddy N, Jeelani R, Crone B, Simmerman N, Singh M, Diamond MP, Armant DR. Trophoblast retrieval and isolation from the cervix (TRIC) for noninvasive prenatal screening at 5 to 20 weeks of gestation. Fertil Steril. 2014 Jul;102(1):135-142.e6. doi: 10.1016/j.fertnstert.2014.04.008. Epub 2014 May 10.
• Fritz R, Kohan-Ghadr HR, Bolnick JM, Bolnick AD, Kilburn BA, Diamond MP, Drewlo S, Armant DR. Noninvasive detection of trophoblast protein signatures linked to early pregnancy loss using trophoblast retrieval and isolation from the cervix (TRIC). Fertil Steril. 2015 Aug;104(2):339-46.e4. doi: 10.1016/j.fertnstert.2015.05.010. Epub 2015 Jun 11.
• Kadam L, Jain C, Kohan-Ghadr HR, Krawetz SA, Drewlo S, Armant DR. Endocervical trophoblast for interrogating the fetal genome and assessing pregnancy health at five weeks. Eur J Med Genet. 2019 Aug;62(8):103690. doi: 10.1016/j.ejmg.2019.103690. Epub 2019 Jun 18.
• Mantzaris D, Cram DS. Potential of syncytiotrophoblasts isolated from the cervical mucus for early non-invasive prenatal diagnosis: evidence of a vanishing twin. Clin Chim Acta. 2015 Jan 1;438:309-15. doi: 10.1016/j.cca.2014.09.002. Epub 2014 Sep 8.
• Pfeifer I, Benachi A, Saker A, Bonnefont JP, Mouawia H, Broncy L, Frydman R, Brival ML, Lacour B, Dachez R, Paterlini-Brechot P. Cervical trophoblasts for non-invasive single-cell genotyping and prenatal diagnosis. Placenta. 2016 Jan;37:56-60. doi: 10.1016/j.placenta.2015.11.002. Epub 2015 Nov 11.
• Shettles LB. Use of the Y chromosome in prenatal sex determination. Nature. 1971 Mar 5;230(5288):52-3. doi: 10.1038/230052b0. No abstract available.

Study record dates

Study Major Dates

• Study Start (Actual): November 19, 2024
• Primary Completion (Estimated): August 30, 2027
• Study Completion (Estimated): September 1, 2028

Study Registration Dates

• First Submitted: July 15, 2024
• First Submitted That Met QC Criteria: July 22, 2024
• First Posted (Actual): July 26, 2024

Study Record Updates

• Last Update Posted (Actual): March 13, 2026
• Last Update Submitted That Met QC Criteria: March 12, 2026
• Last Verified: March 1, 2026

More Information

Terms related to this study

• Keywords: Trophoblast cells; Endocervical canal; Fluorescent in situ hybridization (FISH); Non-invasive prenatal test; Fetal gender
• Other Study ID Numbers: RECHMPL23_0417

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No