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Fetal Genome Profiling Via Trophoblast Cells

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ClinicalTrials.gov Identifier: NCT03832634
Recruitment Status : Recruiting
First Posted : February 6, 2019
Last Update Posted : July 21, 2020
Sponsor:
Information provided by (Responsible Party):
Weill Medical College of Cornell University

Brief Summary:
The objective of this study is to utilize trophoblast cells accumulating in the endocervical canal at the beginning of pregnancy for non-invasive prenatal testing. If we are able to validate that trophoblast cells obtained at an early gestational age can be reliably used for prenatal testing, there is great potential to improve early pregnancy management and counseling options for potential parents. The target population will be all women between the age of 18-45 undergoing care at the Center for Reproductive Medicine (CRM) in order to achieve a pregnancy.

Condition or disease Intervention/treatment Phase
Fetal Growth Retardation Diagnostic Test: Fetal Genome Profiling. Not Applicable

Detailed Description:

The primary purpose of the study is to validate trophoblast retrieval and isolation from the cervix (TRIC) as a means of reliable non invasive prenatal genetic diagnosis (for both chromosomal abnormalities, as well as single gene defects).

The study population will be recruited from women, age 18 to 45, presenting to the Center for Reproductive Medicine (CRM) for medical care with the desire to become pregnant. Patients that achieve pregnancy will be invited by a physician to participate in the study. If prospective subjects agree to participate, they will meet with a co-investigator to go through the informed consent process.

Subjects will undergo a one-time non-invasive collection of trophoblast cells (trophoblast retrieval and isolation from the cervix, TRIC) at approximately 5-6 weeks of pregnancy as the experimental procedure for the study. TRIC is performed with ThinPrep kits using a cytobrush, the same method of Pap smear collection which is a routine part of prenatal care. The fetal trophoblast cells will then be isolated using immunomagnetic isolation. Once isolated, DNA fragmentation, fluorescent in situ hybridization (FISH), and single-cell PCR methods will be utilized to analyze the fetal genome at single nucleotide resolution. Any abnormal results identified by TRIC will be communicated to the subjects' by their physician in the office who will counsel them on the potential meaning of the results and recommend follow up testing to be ordered by their obstetrician to confirm results.

The cellular analysis from TRIC will then be compared to results obtained from CVS, amniocentesis, preimplantation genetic screening (PGS) and/or preimplantation genetic diagnosis (PGD) of the transferred embryo(s), or cytogenetic testing of fetal tissue in the event of miscarriage or pregnancy termination for validation. In the event that a patient does not undergo any of the aforementioned testing, TRIC results will be compared to birth outcomes.

Subjects will be followed via medical records through the final outcome of the pregnancy, whether termination of pregnancy, miscarriage, or live birth. If the pregnancy results in termination of pregnancy or miscarriage, cytogenetic testing of the fetus will be completed as standard care with the results compared to those obtained through TRIC testing. If the pregnancy results in live birth, basic neonatal information will be obtained via medical records, specifically whether the neonate is diagnosed with a disorder that can be identified through single gene testing (see attached table).

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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 70 participants
Allocation: N/A
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Diagnostic
Official Title: Fetal Genome Profiling After Non-Invasive Isolation of Trophoblast Cells
Actual Study Start Date : July 2, 2020
Estimated Primary Completion Date : December 2021
Estimated Study Completion Date : December 2022

Arm Intervention/treatment
Fetal Genome Profiling
Trophoblast cells will be collected from the cervix approximately 5-6 weeks once pregnancy is achieved.
Diagnostic Test: Fetal Genome Profiling.
Once pregnancy is achieved, patients will undergo non-invasive collection of trophoblast cells (trophoblast retrieval and isolation from the cervix, TRIC) at an early gestational age, approximately 5-6 weeks. The patient will also be screened with blood work for carrier status for genetic conditions.




Primary Outcome Measures :
  1. Occurrence of chromosomal anomalies as detected via fetal genome analysis of trophoblast cells [ Time Frame: 6 weeks post pregnancy ]
    Trophoblast cells isolated from the cervix will be used to detect chromosomal anomalies occurrences as a means of non-invasive prenatal screening.


Secondary Outcome Measures :
  1. Occurrence of chromosomal anomalies detected via trophoblast cell analysis as compared to occurrence of chromosomal anomalies detected via preimplantation genetic testing (PGT), chorionic villi sampling (CVS), amniocentesis, or cytogenetic results. [ Time Frame: 16 weeks post pregnancy ]
    Occurrence of chromosomal anomalies detected via trophoblast cells analysis will be compared to the occurrence of chromosomal anomalies detected via either PGT, CVS, amniocentesis, or cytogenetic which ever is available for validation.



Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years to 45 Years   (Adult)
Sexes Eligible for Study:   Female
Gender Based Eligibility:   Yes
Accepts Healthy Volunteers:   Yes
Criteria

Inclusion Criteria:

  • Women 18 to 45 who achieve a pregnancy during study time period.
  • If pregnancy result in miscarriage, cytogenetic testing must be completed on the product of conception.

Exclusion Criteria:

  • Women whose cervical sample collection containing inadequate number of trophoblast cells for analysis.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03832634


Contacts
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Contact: Jessica Guillaume-Abraham, MPH 646-962-3274 jeg2006@med.cornell.edu
Contact: Mitasha Joseph-Sohan, RN, MPA 646-962-3382 mij2008@med.cornell.edu

Locations
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United States, New York
Weill Cornell Medicine Recruiting
New York, New York, United States, 10021
Contact: Jessica Guillaume-Abraham, MPH    646-962-3274    jeg2006@med.cornell.edu   
Contact: Mitasha Joseph-Sohan, RN, MPA    646-962-3382    mij2008@med.cornell.edu   
Principal Investigator: Kangpu Xu, PhD, DVM         
Sponsors and Collaborators
Weill Medical College of Cornell University
Investigators
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Principal Investigator: Kangpu Xu, PhD, DVM Weill Cornell Medicine
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Responsible Party: Weill Medical College of Cornell University
ClinicalTrials.gov Identifier: NCT03832634    
Other Study ID Numbers: 1703018076
First Posted: February 6, 2019    Key Record Dates
Last Update Posted: July 21, 2020
Last Verified: July 2020
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: Yes
Additional relevant MeSH terms:
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Fetal Growth Retardation
Fetal Diseases
Pregnancy Complications
Growth Disorders
Pathologic Processes