Incidental Detection of Maternal Neoplasia Through Non-invasive Cell-Free DNA Analysis (IDENTIFY), a Natural History Study
National Human Genome Research Institute (NHGRI)
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.
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…
Eligibility
- Age range
- 18–100 years
- Sex
- Female
- Healthy volunteers
- No
* 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 in…
Interventions
- DeviceNIPT
noninvasive prenatal testing
Location
- National Institutes of Health Clinical CenterBethesda, Maryland