Maternal NeoplasiaNCT04049604
IDENTIFY Study: Natural History of Maternal Neoplasia
An observational study of Maternal Neoplasia, run by National Human Genome Research Institute (NHGRI) at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 to 100 years, women only
- Conditions the study is for
- Maternal Neoplasia
- What is being tested?
- NIPT
- Type of treatment
- Medical device
- How many people
- 365 participants
- Where
- 1 siteUnited States
- Study dates
- 23 Dec 2019to 30 Apr 2029
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 100 years
- Women only
- No healthy volunteers
- Adult, Older adult
Study population: Primary clinical
Who may be able to join
- 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.
Who cannot join
- -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.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
NIH Clinical Center Office of Patient Recruitment (OPR), 800-411-1222 ext. TTY dial 711, ccopr@nih.gov
About this study
Official title: Incidental Detection of Maternal Neoplasia Through Non-invasive Cell-Free DNA Analysis (IDENTIFY), a Natural History 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.
Read more
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.
Read the detailed description
Background:
- Starting in 2011, analysis of circulating cell-free DNA (cfDNA) in the plasma 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 is referred to as noninvasive prenatal testing (NIPT) or noninvasive prenatal screening (NIPS). 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 test results, 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 high-risk result that is suggestive of aneuploidy. A diagnostic test such as an amniocentesis or a chorionic villus sampling (CVS) should be performed. However, if the fetus has a normal karyotype or chromosome microarray (CMA),there are no guidelines for the 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 or CMA.
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.
- Conditions
- Maternal Neoplasia
- Being tested
- NIPT
- Keywords
- Non invasive Prenatal Screening (NIPT or NIPS), Prenatal Clinical Care, Pregnant Women, Maternal Malignancy, Cell-Free DNA (cfDNA) test, Natural History
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
NIPTDevice
noninvasive prenatal testing
| Study group | Role | What they receive |
|---|---|---|
| 1 | Women with prenatal testing results that suggest an incidental detection of maternal neoplasia Receives: Device: NIPT |
What is being measured
The primary outcome is the main question the study is designed to answer.
To study the natural history of women with prenatal testing results that suggest an incidental detection of maternal neoplasia
Natural history of women with prenatal testing results that suggest an incidental detection of maternal neoplasia
Measured: 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted8 Aug 2019
- Study start23 Dec 2019
- Primary completion30 Apr 2029 (estimated)
- Study completion30 Apr 2029 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (4)Papers the sponsor has linked to this study.
- Other trials for Maternal NeoplasiaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 365 participants (estimated)
Sponsor and investigators
- Lead sponsor
- National Human Genome Research Institute (NHGRI)
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Benjamin D Solomon, M.D., Principal investigator, National Human Genome Research Institute (NHGRI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04049604
- Sponsor's protocol ID
- 190132
- Other IDs
- 19-C-0132
- Status last verified
- 27 Oct 2026
- First submitted
- 7 Aug 2019
- Last updated
- 2 Nov 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: 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.
Publications
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 Aug 1;40(22):2398-2401. doi: 10.1200/JCO.22.00733. Epub 2022 Jun 15. No abstract available.
PubMed 35704839Turriff AE, Annunziata CM, Malayeri AA, Redd B, Pavelova M, Goldlust IS, Rajagopal PS, Lin J, Bianchi DW. Prenatal cfDNA Sequencing and Incidental Detection of Maternal Cancer. N Engl J Med. 2024 Dec 5;391(22):2123-2132. doi: 10.1056/NEJMoa2401029.
PubMed 39774314Turriff A, Miner SA, Annunziata CM, Bianchi DW. Patients' perspectives on prenatal screening results that suggest maternal cancer: A qualitative analysis. Prenat Diagn. 2023 Aug;43(9):1101-1109. doi: 10.1002/pd.6406. Epub 2023 Jul 21.
PubMed 37409892Goldring G, Trotter C, Meltzer JT, Souter V, Pais L, DiNonno W, Xu W, Weitzel JN, Vora NL. Maternal Malignancy After Atypical Findings on Single-Nucleotide Polymorphism-Based Prenatal Cell-Free DNA Screening. Obstet Gynecol. 2023 Apr 1;141(4):791-800. doi: 10.1097/AOG.0000000000005107. Epub 2023 Mar 9.
PubMed 36897127
Study at a glance
From the registry record, last updated by the sponsor on 2 Nov 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Incidental Detection of Maternal Neoplasia Through Non-invasive Cell-Free DNA Analysis (IDENTIFY), a Natural History Study
- ClinicalTrials.gov ID
- NCT04049604
- Acronym / sponsor ID
- 190132
- Conditions
- Maternal Neoplasia
- Keywords
- Non invasive Prenatal Screening (NIPT or NIPS), Prenatal Clinical Care, Pregnant Women, Maternal Malignancy, Cell-Free DNA (cfDNA) test, Natural History
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 365 participants (estimated)
- Lead sponsor
- National Human Genome Research Institute (NHGRI)US National Institutes of Health
- Study start
- 23 Dec 2019 (actual)
- Primary completion
- 30 Apr 2029 (estimated)
- Study completion
- 30 Apr 2029 (estimated)
- First posted
- 8 Aug 2019 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
Background:
- Starting in 2011, analysis of circulating cell-free DNA (cfDNA) in the plasma 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 is referred to as noninvasive prenatal testing (NIPT) or noninvasive prenatal screening (NIPS). 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 test results, 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 high-risk result that is suggestive of aneuploidy. A diagnostic test such as an amniocentesis or a chorionic villus sampling (CVS) should be performed. However, if the fetus has a normal karyotype or chromosome microarray (CMA),there are no guidelines for the 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 or CMA.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| 1 | – | Device: NIPTWomen with prenatal testing results that suggest an incidental detection of maternal neoplasia |
Who may qualify
- Ages
- 18 to 100 years
- Sex
- Female only
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Primary clinical
Key inclusion criteria (7 listed)
- Women, age >= 18 years.
- Pregnancy for which the following applies:
- 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.
Key exclusion criteria (2 listed)
- --Abnormal results that have been associated previously with an increased risk for hematologic malignancy, including but not limited to, Trisomy 8, 20delq, 5delq.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| NIPTnoninvasive prenatal testing | Device | 1 |
Primary outcome
To study the natural history of women with prenatal testing results that suggest an incidental detection of maternal neoplasia
Time frame: 5 years
Natural history of women with prenatal testing results that suggest an incidental detection of maternal neoplasia
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 2 Nov 2026.
- Background: PubMed 35704839Turriff 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 Aug 1;40(22):2398-2401. doi: 10.1200/JCO.22.00733. Epub 2022 Jun 15. No abstract available.
- Derived from this study: PubMed 39774314Turriff AE, Annunziata CM, Malayeri AA, Redd B, Pavelova M, Goldlust IS, Rajagopal PS, Lin J, Bianchi DW. Prenatal cfDNA Sequencing and Incidental Detection of Maternal Cancer. N Engl J Med. 2024 Dec 5;391(22):2123-2132. doi: 10.1056/NEJMoa2401029.
- Derived from this study: PubMed 37409892Turriff A, Miner SA, Annunziata CM, Bianchi DW. Patients' perspectives on prenatal screening results that suggest maternal cancer: A qualitative analysis. Prenat Diagn. 2023 Aug;43(9):1101-1109. doi: 10.1002/pd.6406. Epub 2023 Jul 21.
- Derived from this study: PubMed 36897127Goldring G, Trotter C, Meltzer JT, Souter V, Pais L, DiNonno W, Xu W, Weitzel JN, Vora NL. Maternal Malignancy After Atypical Findings on Single-Nucleotide Polymorphism-Based Prenatal Cell-Free DNA Screening. Obstet Gynecol. 2023 Apr 1;141(4):791-800. doi: 10.1097/AOG.0000000000005107. Epub 2023 Mar 9.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
- Individual participant dataSharing planned: Yes. 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.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Benjamin D Solomon, M.D. principal investigator
National Human Genome Research Institute (NHGRI)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Maternal Neoplasia, run by National Human Genome Research Institute (NHGRI) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 7 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 2 Nov 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Amy E Turriff ((301) 402-5421, turriffa@mail.nih.gov), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
To study the natural history of women with prenatal testing results that suggest an incidental detection of maternal neoplasia (time frame: 5 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT04049604, which also lists 4 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 2 Nov 2026.