Understanding the link between abnormal prenatal DNA tests and maternal cancer
Incidental Detection of Maternal Neoplasia Through Non-invasive Cell-Free DNA Analysis (IDENTIFY), a Natural History Study
This study is trying to see if unusual results from prenatal DNA tests can help find cancer in pregnant women.
Quick facts
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 365 (estimated) |
| Ages | 18 Years to 100 Years |
| Sex | Female |
| Sponsor | National Institutes of Health Clinical Center (CC) NIH |
| Locations | 1 site (Bethesda, Maryland) |
| Trial ID | NCT04049604 on ClinicalTrials.gov |
What this trial studies
This observational study aims to explore the relationship between abnormal or non-reportable results from noninvasive prenatal testing (NIPT) and the presence of maternal neoplasia in pregnant women. Participants will be women aged 18 and older who have received unusual NIPT results suggesting potential malignancy. The study will involve screening participants, collecting medical histories, and obtaining blood and stool samples for analysis. The goal is to enhance understanding of how these prenatal test results may indicate underlying cancer in mothers.
Who should consider this trial
Good fit: Ideal candidates are pregnant women aged 18 and older with abnormal or non-reportable NIPT results that suggest a potential malignancy.
Not a fit: Patients with abnormal NIPT results previously linked to hematologic malignancies will not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved detection and management of maternal malignancies through prenatal screening.
How similar studies have performed: While there have been case reports suggesting the potential of cfDNA analysis in detecting maternal malignancies, this specific approach is relatively novel and untested.
Eligibility criteria
Show full inclusion / exclusion criteria
* INCLUSION CRITERIA: * Women, age \>= 18 years. * Pregnancy for which the following applies: * Underwent blood noninvasive prenatal testing (NIPT) during pregnancy to screen for fetal chromosomal aneuploidies and had unusual results that either led to an interpretation of "non-reportable" or multiple aneuploidies inconsistent with a viable fetus. * Normal-appearing fetus or fetuses on ultrasound examination and/or a normal fetal or neonatal karyotype. If a fetal anomaly is present but does not explain entirely the NIPT results, or there is a continuing concern for maternal cancer, the individual is still eligible for participation. * Study enrollment may occur during pregnancy or up to two years postpartum. * Ability to travel to NIH. * Ability of subject to understand and the willingness to sign a written informed consent document. EXCLUSION CRITERIA: -The following NIPT results will be excluded: --Abnormal results that have been associated previously with an increased risk for hematologic malignancy, including but not limited to, Trisomy 8, 20delq, 5delq.
Where this trial is running
Bethesda, Maryland
- National Institutes of Health Clinical Center — Bethesda, Maryland, United States (Recruiting)
Study contacts
- Principal investigator: Benjamin D Solomon, M.D. — National Human Genome Research Institute (NHGRI)
- Study coordinator: Amy E Turriff
- Email: turriffa@mail.nih.gov
- Phone: (301) 402-5421
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.