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IDENTIFY Study: Natural History of Maternal Neoplasia

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ClinicalTrials.gov Identifier: NCT04049604
Recruitment Status : Recruiting
First Posted : August 8, 2019
Last Update Posted : January 20, 2023
Sponsor:
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Cancer Institute (NCI) )

Brief Summary:

Background:

Pregnant women can get a DNA analysis of their blood. The test tells a woman and her doctor about the DNA of her unborn baby. But some women get test results that are abnormal or not reportable. Researchers want to learn more about the relationship between these test results and cancer.

Objective:

To better understand prenatal DNA test results and how they can predict cancer, if present, in pregnant women.

Eligibility:

Women 18 and older who got prenatal DNA test results that were abnormal or not reportable and suggested the abnormality was in the woman and not her baby.

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Design:

Potential participants will be screened by phone or in person. They will talk about their medical history and send copies of their medical records.

Eligible participants will have a physical exam and medical history. They will give blood and stool samples. They may have a Pap smear. They will talk to a specialist about the test results they got when they were pregnant.

Participants will have magnetic resonance imaging (MRI). They will lie on a table that slides in and out of a metal tube, taking pictures.

Participants will complete a paper or electronic survey. It will assess their emotional well-being.

Participants will get a list of any possible diagnoses and treatment options.

Participants may be followed for up to 5 years. They may give blood samples and copies of their medical records. This can be done without traveling to the NIH. In some cases, people might come back to the NIH in one year to see if anything has changed.


Condition or disease
Maternal Neoplasia

Detailed Description:

Background:

  • Starting in 2011, analysis of circulating cell-free DNA (cfDNA) in the blood of pregnant women began to be offered clinically as a prenatal screen for trisomies 13, 18, and 21. Owing to its superior sensitivity and positive predictive values compared to serum biochemistry and ultrasound markers, the cfDNA test became rapidly incorporated into prenatal clinical care.
  • By 2013, however, reports began to appear that described examples of false-positive test results.
  • cfDNA analysis is performed on maternal plasma samples taken any time between 10 and 40 weeks of gestation and called noninvasive prenatal testing (NIPT). The maternal plasma contains circulating DNA from the placenta (which serves as a proxy for the fetus) as well as the maternal hematopoietic system.
  • Retrospective studies evaluated the DNA profiles of women in whom a clinical diagnosis of malignancy was already known. Solid tumors shed cfDNA into the circulation. With increased understanding of maternal malignancy as the underlying basis for unusual cfDNA analysis, case reports have been published that suggest that the tumor cfDNA is the underlying basis for the false-positive test results.
  • Prenatal genomic testing provides proof-of-principle that cfDNA analysis works as a screen to detect neoplasia, even when it was not designed to do so; and, clinical sequencing laboratories can find the women who are potentially at risk. There are clear and consistent professional guidelines regarding follow-up of the fetus with a diagnostic test such as an amniocentesis or a chorionic villus sampling (CVS). However, if the fetus has a normal karyotype, there are no guidelines as to follow-up of the pregnant woman. We propose here a study to determine the best approach for clinical follow-up if the test results are suggestive of cancer.

Objective:

- To study the natural history of women with prenatal testing results that suggest an incidental detection of maternal neoplasia

Eligibility:

- Women who had prenatal cfDNA tests during pregnancy to screen for fetal chromosomal aneuploidies,with non-reportable or abnormal results inconsistent with a viable fetus. Follow up testing shows a normal-appearing fetus on ultrasound examination and/or a normal fetal or neonatal karyotype.

Design:

  • Participants will undergo an initial evaluation at the Clinical Center to diagnose possible neoplasia.
  • All collected information will be discussed in multidisciplinary meetings. If neoplasia is discovered, the results will be shared with participants and referring physicians.
  • Participants will be followed to collect all available medical information.

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Study Type : Observational
Estimated Enrollment : 120 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Incidental Detection of Maternal Neoplasia Through Non-invasive Cell-Free DNA Analysis (IDENTIFY), a Natural History Study
Actual Study Start Date : December 23, 2019
Estimated Primary Completion Date : December 31, 2023
Estimated Study Completion Date : December 31, 2023

Group/Cohort
1/Cohort 1
Women with prenatal testing results that suggest an incidental detection of maternal neoplasia
2/Cohort 2
Women undergoing active treatment or surveillance for known malignancy



Primary Outcome Measures :
  1. To study the natural history of women with prenatal testing results that suggest an incidental detection of maternal neoplasia [ Time Frame: 2 years ]
    Natural history of women with prenatal testing results that suggest an incidental detection of maternal neoplasia



Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   Female
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Primary clinical
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 "test failure" or multiple aneuploidies inconsistent with a viable fetus.

  • Follow up testing shows a normal-appearing fetus or fetuses on ultrasound examination and/or a normal fetal or neonatal karyotype.
  • Women undergoing active treatment or surveillance for known malignancy may enroll, so that their DNA profiles will serve as positive controls.
  • Study enrollment may occur during pregnancy or up to two years postpartum.
  • Ability to travel to NIH, unless undergoing active treatment for known malignancy.
  • Ability of subject to understand and the willingness to sign a written informed consent document.

EXCLUSION CRITERIA:

- None


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): NCT04049604


Contacts
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Contact: Amy E Turriff (301) 402-5421 turriffa@mail.nih.gov
Contact: Christina M Annunziata, M.D. (240) 760-6125 ca180n@nih.gov

Locations
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United States, Maryland
National Institutes of Health Clinical Center Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact National Cancer Institute Referral Office    888-624-1937      
Sponsors and Collaborators
National Cancer Institute (NCI)
Investigators
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Principal Investigator: Christina M Annunziata, M.D. National Cancer Institute (NCI)
Additional Information:
Publications:
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Responsible Party: National Cancer Institute (NCI)
ClinicalTrials.gov Identifier: NCT04049604    
Other Study ID Numbers: 190132
19-C-0132
First Posted: August 8, 2019    Key Record Dates
Last Update Posted: January 20, 2023
Last Verified: January 18, 2023
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes
Plan Description: .All IPD recorded in the medical record will be shared with intramural investigators upon request. In addition, all large scale genomic sequencing data will be shared with subscribers to dbGaP.
Supporting Materials: Study Protocol
Statistical Analysis Plan (SAP)
Informed Consent Form (ICF)
Time Frame: Clinical data are available during the study and indefinitely. Genomic data are available once genomic data are uploaded per protocol GDS plan for as long as database is active.
Access Criteria: Clinical data will be made available via subscription to BTRIS and with the permission of the study PI. Genomic data are made available via dbGaP through requests to the data custodians.

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by National Institutes of Health Clinical Center (CC) ( National Cancer Institute (NCI) ):
Prenatal Clinical Care
Prenatal Screen
Pregnant Women
Predictive Values
Natural History
Cell-Free DNA (cfDNA) test
Additional relevant MeSH terms:
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Neoplasms