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Natural History of Maternal Neoplasia

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ClinicalTrials.gov Identifier: NCT04049604
Recruitment Status : Not yet recruiting
First Posted : August 8, 2019
Last Update Posted : November 11, 2019
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. The will give blood and stool samples. They will have a Pap smear. They may have a pregnancy test. They will talk to a specialist about the test results they got when they were pregnant.

Participants will have a computed tomographic (CT) scan or magnetic resonance imaging (MRI). For CT, a small amount of radiation is used to make a picture of the body. For 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 and physical well-being.

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

Participants will have yearly follow-up visits at NIH for 2-5 years. They will complete surveys. They may give blood samples and copies of their medical records. They may do some visits by phone or email.


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 abnormal cfDNA results and normal diagnostic fetal or neonatal chromosome testing, such as amniocentesis or chorionic villus sampling.

Design:

  • Participants will undergo an initial evaluation at the Clinical Center by a member of the WMB 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 : 100 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Natural History and Evaluation of Abnormal and Nonreportable Noninvasive Prenatal Testing (NIPT) Results and Its Association With Maternal Neoplasia
Estimated Study Start Date : November 14, 2019
Estimated Primary Completion Date : December 31, 2022
Estimated Study Completion Date : December 31, 2022

Group/Cohort
1/Cohort 1
Women with prenatal testing results that suggest an incidental detection of maternal neoplasia



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

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   Female
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Primary clinical
Criteria
  • INCLUSION CRITERIA:
  • Women, age >= 18 years.
  • Pregnancy with singleton gestation 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 normal fetus.
    • Underwent diagnostic fetal or neonatal chromosome testing, such as amniocentesis or chorionic villus sampling, and the fetus or neonate was shown to be euploid.
  • Study enrollment may occur during pregnancy or up to one-year postpartum.
  • Ability to travel to NIH
  • Ability of subject to understand and the willingness to sign a written informed consent document.

EXCLUSION CRITERIA:

- Women undergoing active treatment for known malignancy.


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: Rebecca S Trupp, R.N. (240) 760-7533 rebecca.trupp@nih.gov

Locations
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United States, Maryland
National Institutes of Health Clinical Center Not yet 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:
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Responsible Party: National Cancer Institute (NCI)
ClinicalTrials.gov Identifier: NCT04049604     History of Changes
Other Study ID Numbers: 190132
19-C-0132
First Posted: August 8, 2019    Key Record Dates
Last Update Posted: November 11, 2019
Last Verified: September 6, 2019
Keywords provided by National Institutes of Health Clinical Center (CC) ( National Cancer Institute (NCI) ):
Prenatal Clinical Care
Prenatal Screen
Cell-Free DNA (cfDNA) test
Pregnant Women
Predictive Values
Additional relevant MeSH terms:
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Neoplasms