When NIPT finds possible cancer (2023)

, Sarah Schmelling

When NIPT finds possible cancer (1)

A blood test that can detect cancer has received some attention recently. but different from othersA blood test is being studied as a way to detect cancer, it was not designed for this. This test is aprenatalA blood test that analyzes free-floating debrisdecalcified nucleosaccharide nucleic acid, called cell-free DNA (cfDNA), derived fromfetus.This type of test usually looks for an irregular numberchromosomecalled fetusaneuploidy.

but ten years laternon-invasivePrenatal blood testing - commonly called NIPT - is used clinically in a few cases to indicate fetal aneuploidy, but additional testing indicates that the fetus is chromosomally normal. In some of these cases, women who received these false positive prenatal screening results were subsequently diagnosed with cancer during pregnancy or after delivery.

The reports spurred NIH researchersStart a study called IDENTIFY, 2019 Learn more about the relationship between these test results and cancer. The study was led by Christina Annunziata, MD, and Diana Bianchi, director, NCI Cancer Research CenterEunice Kennedy ShriverNational Institute of Child Health and Human Development.

Ph.D. as. Bianchi and Amy Turriff, MSgenetic counselorThe National Human Genome Research Institute also participated in the study, recently working withcancer on the runAbout previous research experience.

Why start the IDENTIFY study?

Bianchi:Noninvasive prenatal testing for fetal chromosomal abnormalities became available in late 2011. In 2013, reports of inaccurate test results began to emerge, with occasional confounded results interpreted as false positives for fetal aneuploidy. If the fetus hasTrisomy13 [chromosomal abnormalities], or multiple aneuploidies are present and fetal diagnostic tests are normal.

Also in 2013, a woman was reported to have multiple aneuploidies as a result of prenatal testing. Three tests by two different labs all came back the same, suggesting it was a finding but that the fetus was normal.

When NIPT finds possible cancer (2)

It was not until after giving birth that the mother complained of pelvic pain and then did a more comprehensive examination, only to find a pelvic fracture.neuroendocrine tumorshas spread. tumor secreted fragmentdecalcified nucleosaccharide nucleic acidin the blood of women detected during prenatal testing.

This is the first recognition that a test that analyzes cfDNA, supposedly from the fetus, can also detect cancer in the mother.

When I joined the NIH in 2016, I started looking for a way to conduct a study at the NIH Clinical Center that would help us better understand what happens in these situations and how best to address them. I finally managed to get in touchDepartment of Female Malignant DiseasesAt the NCI, the study began in December 2019.

What is the main goal of the research?

Bianchi:The main aim is to gather enough evidence to make expert recommendations on what to do when patients receive a false positive or 'unreportable' prenatal screening result, as there are large gaps in practice.

In that case, some providers just say, "You're healthy, you're young, you're pregnant. Nothing." Or they can only partially check [pregnant women]. Or sometimes they refer patients to an oncologist, but the oncologist isn't sure how to proceed because there's no standard treatment for these patients.

The idea is for specific,futureTreatment to determine if a person has a malignant disease and needs emergency cancer treatment, even if she is pregnant. There is also research that will help us better understand how patients experience these conditions.

Can you say more?

Turif:We try to understand how people feel when they receive these results and decide whether to have cancer screening during pregnancy.

Concern by doctors and others involved in pregnancy care about causing anxiety in pregnant women could be a possible reason for not publishing the results, especially since this is indeed beyond the scope of prenatal screening tests. But the views of pregnant women who received these results were not studied.

Therefore, we asked participants in our study to participate in interviews about their experiences of receiving prenatal screening results indicating that the mother may have cancer, their decision to undergo cancer screening, and their perceptions of the risks and benefits of disclosing these results. Views during pregnancy. Pregnant. We also collect annual surveys from study participants so that we can better understand the impact of receiving these results on individuals.

Bianchi:We found that, for a variety of reasons, some participants waited months after the test results to be assessed. However, the intervals are getting shorter as more clinicians become aware of the research. But unfortunately, some people procrastinate for a long time.

What barriers prevent people from participating in research? For example, if people have no symptoms of cancer, are they willing not to be tested again?

Turif:About half who mentioned the study chose not to participate. I think in most cases they have no reason to suspect they have cancer, so they see no reason to be evaluated.

When NIPT finds possible cancer (3)

All our participants areasymptomatic.They are very young. In these circumstances, it can be difficult for people to imagine themselves developing something as serious as cancer while feeling fine. It's also not uncommon for pregnant women to be assured by their healthcare provider that they are less likely to develop cancer. We see this impacting whether people choose to be assessed and how quickly they complete it.

How many people in the study have cancer so far?

Bianchi:To date, we have identified approximately 60% of our participants as having cancer. The study included a visit to an NIH clinical center, a complete physical exam, blood work, repeat cfDNA sequencing, and then a whole-body MRI. The contestants then meet with Dr. Annunziata and her staff discuss the results of these tests and, if cancer is found, the next steps in treatment.

What types of cancer can you find?

Turif:If we evaluate the research, it is possible to detect any type of cancer. Lymphoma is usually the most common cancer, but we've also seen some very rare tumors in our studies.

From the interview data we have, people expect that if they are diagnosed with cancer, it will be in an early stage and curable because they have no symptoms. Unfortunately, this is not always the case. We have diagnosed people who appear to be completely asymptomatic or have even progressedTransferredLat.

How is this research going and how long will it last?

Bianchi:We've recruited about 70 participants and the study plans to enroll 150 participants, so we're not going to end recruitment anytime soon. There have been very important findings and I think one of the most important messages will be yes to these prenatal testsgenome sequencingA platform that wasn't designed to detect cancer, but it does.

When NIPT finds possible cancer (4)

so it makes you think about how it fits intoliquid biopsyPlatforms that are being studied for cancer. These prenatal tests are essentially a liquid biopsy that can be very effective for certain types of tumors.

How do you hope the results of this research will impact healthcare?

Bianchi:Most importantly, this study could provide the evidence needed to change the treatment of pregnant women. This would lead to insurance paying for continued care after a heart attack in a pregnant womanabnormalresult.

This is one of the reasons why we wanted to do this research in the first place. Currently, few insurance plans will pay for postpartum exams because there is no evidence base to justify it. We don't want people to be denied reprocessing because they can't afford it.

We hope to detect malignant diseases as early as possible. Despite the abnormal test results, not everyone in the study had cancer. We found other conditions, such as fibroids, that can also shed unusual fragments of DNA into the blood.

We also want patients and carers to know that pregnant women can safely receive cancer treatment, especially during the late second to third trimester, when research should be done. The goal is to start treatment as soon as possible, rather than waiting 4-5 months after delivery.


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