Incidental Detection of Maternal Neoplasia Through Non-invasive Cell-Free DNA Analysis (IDENTIFY), a Natural History Study
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 365
- 试验地点
- 1
- 主要终点
- To study the natural history of women with prenatal testing results that suggest an incidental detection of maternal neoplasia
研究概览
简要总结
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.
详细描述
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
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Screening
- 盲法
- None
入排标准
- 年龄范围
- 18 Years 至 100 Years（Adult, Older Adult）
- 性别
- Female
- 接受健康志愿者
- 否
入选标准
- •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.
排除标准
- •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.
研究组 & 干预措施
1
Women with prenatal testing results that suggest an incidental detection of maternal neoplasia
干预措施: NIPT (Device)
结局指标
主要结局
To study the natural history of women with prenatal testing results that suggest an incidental detection of maternal neoplasia
时间窗: 5 years
Natural history of women with prenatal testing results that suggest an incidental detection of maternal neoplasia
次要结局
未报告次要终点