Home › NCT04049604

IDENTIFY Study: Natural History of Maternal Neoplasia

Incidental Detection of Maternal Neoplasia Through Non-invasive Cell-Free DNA Analysis (IDENTIFY), a Natural History Study

Who can join

Ages 18 to 100 · Women

* 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.

About the study

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.

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.

What is being tested

• NIPT (device)

Sponsor: National Human Genome Research Institute (NHGRI) · Participants: 365 · Started: Dec 23, 2019

Contact the study team

• Amy E Turriff · Phone: (301) 402-5421
• Benjamin D Solomon, M.D. · Phone: (301) 402-8824

Official record on ClinicalTrials.gov — NCT04049604

Locations in the U.S.

From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.