Fetal Genome Profiling Via Trophoblast Cells
|The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.|
|ClinicalTrials.gov Identifier: NCT03832634|
Recruitment Status : Recruiting
First Posted : February 6, 2019
Last Update Posted : July 21, 2020
|Condition or disease||Intervention/treatment||Phase|
|Fetal Growth Retardation||Diagnostic Test: Fetal Genome Profiling.||Not Applicable|
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).
|Study Type :||Interventional (Clinical Trial)|
|Estimated Enrollment :||70 participants|
|Intervention Model:||Single Group Assignment|
|Masking:||None (Open Label)|
|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|
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.
- 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.
- 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.
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
|Contact: Jessica Guillaume-Abraham, MPHemail@example.com|
|Contact: Mitasha Joseph-Sohan, RN, MPAfirstname.lastname@example.org|
|United States, New York|
|Weill Cornell Medicine||Recruiting|
|New York, New York, United States, 10021|
|Contact: Jessica Guillaume-Abraham, MPH 646-962-3274 email@example.com|
|Contact: Mitasha Joseph-Sohan, RN, MPA 646-962-3382 firstname.lastname@example.org|
|Principal Investigator: Kangpu Xu, PhD, DVM|
|Principal Investigator:||Kangpu Xu, PhD, DVM||Weill Cornell Medicine|