Recruiting

Observational Study

Sponsor:

National Human Genome Research Institute (NHGRI)

Code:

NCT04049604

Conditions

Maternal Neoplasia

Eligibility Criteria

Sex: Female

Age: 18 - 70+

Healthy Volunteers: Not accepted

Interventions

NIPT

Study Details

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.

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.

Conditions

Maternal Neoplasia

Study ID

NCT04049604

Start date

Dec 23, 2019

Status verified date

Feb 25, 2026

Completion date

Apr 30, 2029

Anticipated

Primary completion date

Apr 30, 2029

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: Female

Age: 18 - 70+

Healthy Volunteers: Not accepted

  • 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.

Study Design

Enrollment

365 participants

Anticipated

Intervention Model

Single group

Primary purpose

Screening

Interventions and Outcome Measures

Arms

other: 1

Women with prenatal testing results that suggest an incidental detection of maternal neoplasia

Interventions

NIPT

noninvasive prenatal testing

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 ]

Central Contacts and Locations

Central contacts

Locations

National Institutes of Health Clinical Center

Recruiting

Bethesda, Maryland, United States, 20892

Contacts

NIH Clinical Center Office of Patient Recruitment (OPR)

800-411-1222ccopr@nih.gov

More Information

Sponsor

National Human Genome Research Institute (NHGRI)

Last update posted

Mar 3, 2026

Last verified

Feb 25, 2026

Keywords

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

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by National Human Genome Research Institute (NHGRI) on 2026-03-03.