Ultra-early Identification of Fetal Chromosomal Characteristics From Extravillous-trophoblast Cells

NCT06523543 | Recruiting

• 1 other identifier: RECHMPL23_0417
• Study Type: observational
• Target: 25
• Locations: 1 country
• Sites: 1

Brief Summary

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

Conditions

Pregnant Women

Keywords

Trophoblast cells; Endocervical canal; Fluorescent in situ hybridization (FISH); Non-invasive prenatal test; Fetal gender

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (2)

• Evaluate the ability of the method to provide a result in the context of a progressive pregnancy

  Visit 2 (Week 20-24)

• Expected benefit of ultra-early cytogenetic information

  Visit 2 (Week 20-24)

Study Arms (1)

Pregnant women

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

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)

Interventions

Inclusion (Visit 1 - Week 7-16) PROCEDURE

Extraction of cervico-vaginal sampling

Pregnant women

Second semester of pregnancy (Visit 2 - Week 20-24) DIAGNOSTIC_TEST

Ultrasound examination (determination of chromosomal sex)

Pregnant women

Third semester of pregnancy (Visit 3- Week 34) DIAGNOSTIC_TEST

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.

Pregnant women

Eligibility Criteria

• Age: 18 Years+
• Sex: female
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Pregnant women with a priori genetic risk

You may qualify if:

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

Sponsors & Collaborators

• University Hospital, Montpellier: lead

Study Sites (1)

CHU de Montpellier

Montpellier, France, 34295, France

RECRUITING

Related Publications (9)

• 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.

  PMID: 31431640 BACKGROUND

• 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.

  PMID: 24825422 BACKGROUND

• 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.

  PMID: 28483162 BACKGROUND

• 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.

  PMID: 26051097 BACKGROUND

• 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.

  PMID: 31226440 BACKGROUND

• 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.

  PMID: 25218787 BACKGROUND

• 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.

  PMID: 29608700 BACKGROUND

• 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.

  PMID: 26680636 BACKGROUND

• 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.

  PMID: 4102825 BACKGROUND

Study Officials

• Vincent GATINOIS, MD

  University Hospital, Montpellier

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Vincent GATINOIS, MD

CONTACT

0 67 33 68 66; v-gatinois@chu-montpellier.fr

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 15, 2024
• First Posted: July 26, 2024
• Study Start: November 19, 2024
• Primary Completion (Estimated): August 30, 2027
• Study Completion (Estimated): September 1, 2028
• Last Updated: March 13, 2026

Record last verified: 2026-03

Locations

FR (1)