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Protocol Details

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

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts




Sponsoring Institute

National Human Genome Research Institute (NHGRI)

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Female
Min Age: 18 Years
Max Age: 100 Years

Referral Letter Required


Population Exclusion(s)



Non invasive Prenatal Screening (NIPT or NIPS);
Prenatal Clinical Care;
Pregnant Women;
Maternal Malignancy;
Cell-Free DNA (cfDNA) test

Recruitment Keyword(s)



Maternal Neoplasia

Investigational Drug(s)


Investigational Device(s)




Supporting Site

National Human Genome Research Institute


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.


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


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.


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.

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- 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.

-Follow up testing shows a normal-appearing fetus or fetuses on ultrasound examination and/or a normal fetal or neonatal karyotype.

-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.


-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.

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Turriff AE, Annunziata CM, Bianchi DW. Prenatal DNA Sequencing for Fetal Aneuploidy Also Detects Maternal Cancer: Importance of Timely Workup and Management in Pregnant Women. J Clin Oncol. 2022 Jun 15:JCO2200733. doi: 10.1200/JCO.22.00733. Epub ahead of print. PMID: 35704839.

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Principal Investigator

Referral Contact

For more information:

Diana W. Bianchi, M.D.
National Human Genome Research Institute (NHGRI)
National Institutes of Health
Building 31
Room 2A03
31 Center Drive
Bethesda, Maryland 20892
(301) 496-9454

Amy E. Turriff
National Human Genome Research Institute (NHGRI)
National Institutes of Health
Building 10
Room 10N226
10 Center Drive
Bethesda, Maryland 20892
(301) 402-5421

NCI Referral Office
National Institute of Health Clinical Center (CC), 9000 Rockville Pike, Bethesda, Maryland 20892, United States: NCI Clinical Trials Referral Office

Clinical Trials Number:


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