{"id":29506,"date":"2023-05-17T12:00:00","date_gmt":"2023-05-17T12:00:00","guid":{"rendered":"https:\/\/www.cancer.gov\/news-events\/cancer-currents-blog\/2023\/pregnancy-prenatal-testing-finds-cancer"},"modified":"2024-11-03T15:12:46","modified_gmt":"2024-11-03T15:12:46","slug":"when-prenatal-dna-tests-point-to-cancer","status":"publish","type":"post","link":"https:\/\/ogkologos.com\/en\/when-prenatal-dna-tests-point-to-cancer\/","title":{"rendered":"When Prenatal DNA Tests Point to Cancer"},"content":{"rendered":"

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The NIH-led IDENTIFY study is looking at the experience of pregnant people for whom prenatal DNA testing suggests they may have cancer.<\/p>\n

Credit: iStock<\/p>\n<\/p><\/div>\n<\/figcaption><\/figure>\n<\/p><\/div>\n

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A blood test that may detect cancer has received some attention recently. But, unlike other blood tests being studied as ways to screen for cancer<\/a>, it wasn\u2019t designed for that purpose. This test is a prenatal<\/a> blood test that analyzes free-floating bits of DNA<\/a>, known as cell-free DNA (cfDNA), from the fetus<\/a>. Specifically, tests of this type screen for an irregular number of chromosomes<\/a>, called fetal aneuploidy<\/a>. <\/p>\n

But in the decade or so that noninvasive<\/a> prenatal blood tests\u2014often called NIPT\u2014have been in clinical use, there have been some cases in which the results indicated that a fetal aneuploidy was present, but additional testing found the fetus had normal chromosomes. In some of these cases, women who received these false-positive prenatal screening results were subsequently diagnosed with cancer, either during the pregnancy or after childbirth.<\/p>\n

These reports led NIH researchers to launch a study, called IDENTIFY<\/a>, in 2019 to learn more about the relationship between these test results and cancer. The study is led by Christina Annunziata, M.D., Ph.D., of NCI\u2019s Center for Cancer Research, and Diana Bianchi, M.D., director of the Eunice Kennedy Shriver<\/em> National Institute of Child Health and Human Development.<\/p>\n

Dr. Bianchi and Amy Turriff, Sc.M., a genetic counselor<\/a> at the National Human Genome Research Institute, who is also involved in the study, recently talked with Cancer Currents<\/em> about the experience with the study so far.<\/p>\n<\/div>\n

Why was the IDENTIFY study launched?<\/h3>\n

Bianchi:<\/strong> Noninvasive prenatal testing for fetal chromosomal abnormalities first became available in late 2011. In 2013, there began to be reports of inaccurate test results, and occasionally there were confusing results that were interpreted as false positives for fetal aneuploidy. There would be a report that the fetus had trisomy<\/a> 13 [a chromosomal condition], or that there were multiple aneuploidies, and then the diagnostic testing on the fetus was normal.<\/p>\n

Also in 2013, there was a report of a woman who had multiple aneuploidies found in her prenatal test results. Two different labs carried out three tests, all with the same results, suggesting that it was a real finding, but the fetus was normal.<\/p>\n

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In pregnant people, blood tests that analyze bits of DNA from the fetus to find an abnormal number of chromosomes, or aneuploidy, are routinely performed. In some cases, these tests find aneuploidy in maternal DNA, identifying potential cancers.<\/p>\n

Credit: Created with Biorender.com<\/p>\n<\/p><\/div>\n<\/figcaption><\/figure>\n<\/div>\n

It was only after the birth of the baby, when the woman complained of pelvic pain and a more extensive workup was done, that she was shown to have pelvic bone fractures that were the result of a neuroendocrine tumor<\/a> that had spread. The tumor was shedding fragments of DNA<\/a> into the woman\u2019s bloodstream that were being detected by the prenatal test. <\/p>\n

That was the first recognition that tests analyzing cfDNA, supposedly from the fetus, could also detect cancer in the mother.<\/p>\n

When I came to NIH in 2016, I began looking for a way to launch a study at the NIH Clinical Center that would allow us to better understand what\u2019s happening in these situations and how to best address them. I was eventually able to connect with the Women\u2019s Malignancies Branch<\/a> at NCI, and the study launched in December 2019.<\/p>\n

What are the study\u2019s primary goals?<\/h3>\n

Bianchi:<\/strong> The main goal is to gather enough evidence to make professional recommendations about what to do when patients receive false-positive or “nonreportable” test results from prenatal screening, because there are big gaps in practice.<\/p>\n

In this situation, some providers just say, \u201cYou\u2019re healthy, you\u2019re young, you\u2019re pregnant. This is nothing.\u201d Or they may only do a partial workup [of the pregnant person]. Or sometimes they refer the patient to an oncologist, who isn\u2019t sure about how to proceed because there\u2019s no standard for how to manage these patients yet.<\/p>\n

The idea is to develop the evidence for a specific, prospective<\/a> workup to determine whether the person has a malignancy and needs cancer management right away, even while they are pregnant. There\u2019s also a part of the study that will help us better understand the patient\u2019s experience in these situations.<\/p>\n

Can you talk more about that?<\/h3>\n

Turriff:<\/strong> We\u2019re trying to understand how people experience receiving these results and make decisions about whether to be screened for cancer during pregnancy. <\/p>\n