Fetal Genome Profiling Via Trophoblast Cells
| Status: | Recruiting |
|---|---|
| Conditions: | Women's Studies |
| Therapuetic Areas: | Reproductive |
| Healthy: | No |
| Age Range: | 18 - 45 |
| Updated: | 2/8/2019 |
| Start Date: | February 2019 |
| End Date: | December 2020 |
| Contact: | Jessica Guillaume-Abraham, MPH |
| Email: | jeg2006@med.cornell.edu |
| Phone: | 646-962-3274 |
Fetal Genome Profiling After Non-Invasive Isolation of Trophoblast Cells
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.
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.
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).
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).
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.
We found this trial at
1
site
New York, New York 10065
Principal Investigator: Kangpu Xu, PhD, DVM
Phone: 646-962-3274
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