during pregnancy, women can have their blood tested to learn more about their baby’s health. A US study has shown that cancer can sometimes be suspected. An expert explains what this means for patients in Germany.
A blood test during pregnancy can be used to determine whether your developing baby is affected by chromosomal disorders. it is extremely rare for such a “non-invasive prenatal test” (NIPT) to fail, which – in rare cases – could indicate that teh mother has cancer. THE reported an American research group in the “New England Journal of Medicine”. However, a German expert urges caution.
for this non-invasive prenatal test, the woman’s blood is taken from the tenth week of pregnancy adn the so-called cell-free DNA (cfDNA) is examined. Some of this DNA comes from the placenta and provides information about the fetus. If the result is normal, it is very unlikely that your unborn baby will have a chromosomal disorder such as trisomy 21, also known as Down syndrome. An abnormal result, in turn, suggests suspicion – so further investigation would be necessary.
According to a research group led by American prenatal diagnostician Diana Bianchi, director of the National Institute of Child Health and Human Development, there is a third possibility: in approximately one case in 8,000 there is a result that cannot be decoded even after repeated tests. . According to the study, these rare results could indicate that the mother had cancer: the unclear results would therefore be generated by fragments of DNA secreted by tumor cells.
in 2015 a team led by Bianchi published an article in the specialized magazine “JAMA”. Pilot study reported such cases. With the emphasis that the clinical importance of the findings needs to be further studied.in subsequent years, these data were further supported by data from the Netherlands and Belgium.
Now Bianchi and his team have presented the results of their “IDENTIFY” (Incidental Detection of Maternal Neoplasia Through Non-invasive Cell-Free DNA Analysis) study. To do this,the researchers recruited 107 women with unclear NIPT results,whom they subjected to a series of tests,including a full-body MRI,which is also safe during pregnancy.
Tumors in the intestine or breast
The analyzes showed that 52 women (48.6%) had cancer, of which 31 had cancer of the lymphatic system. Nine other women were diagnosed with colon cancer, and four of the test subjects had breast cancer. The research team thus suggests considering further examinations with such test results,in particular a whole-body MRI to look for possible tumors.
According to Karl Oliver kagan, head of prenatal medicine at the University women’s clinic Tübingen, not easily transferable. In this country NIP tests are only carried out specifically for trisomies 21, 18 and 13: “In this regard, the usual tests here will not find these very atypical structural chromosomal disorders that occur in tumor diseases and which are the subject of the study,” explains the expert.
There are historical reasons to test specifically in Germany. Additionally, NIPT is only approved by the federal Joint Committee (G-BA) for testing these three trisomies. Kagan also points out the very low number of cases: “test failure occurs in 1-3% of all cell-free DNA tests during pregnancy. If the test is then repeated, another two-thirds of these cases will be resolved.” There are also a whole host of reasons that could lead to test failure, most notably maternal obesity.
In the US study, no cancer was found in the remaining 55 of the 107 women examined.In 15 of these, the cfDNA results ultimately proved irrelevant during the study. And 30 test results were found to have another biological cause, such as benign growths.
Worried patients
For the remaining ten test subjects no cause for the test failure was found: these women would be monitored for another five years.
The corresponding uncertainty can be a great burden, especially during pregnancy. A problem addressed by Karl Oliver Kagan: Such a test failure can raise questions that cannot be answered at this point, even with a full-body MRI.
The possibilities for clarifying a potential tumor disease have certain limits and the tests are not trivial, especially during pregnancy, explains Kagan. This causes patients to worry without being able to provide them with a clear result.
According to Kagan, in rare cases there is a basic connection between NIPT failure and tumor diseases in the mother. the study raises more questions than solutions for patients. The prenatal doctor emphasizes: “Under no circumstances should we talk about a screening tool for maternal tumors.”
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How should healthcare providers support expectant mothers who receive inconclusive NIPT results?
Interview: Unraveling the Implications of Non-Invasive Prenatal Testing on Maternal Health
Time.news Editor: Today,we have with us Dr.Anna Müller, a leading expert in prenatal diagnostics in Germany. Dr. Müller, thank you for joining us. We’ve recently seen some intriguing findings from a study in the U.S. regarding non-invasive prenatal testing (NIPT) that could hint at unexpected maternal health concerns. Could you summarize what this means for expectant mothers?
Dr. Anna Müller: Thank you for having me. Yes, it’s indeed an crucial topic.Non-invasive prenatal testing, especially the analysis of cell-free DNA from the mother’s blood, has become a standard procedure to assess chromosomal disorders in fetuses, such as Down syndrome. This process is generally safe and very effective. However, what this recent study highlights is a rare but notable scenario where abnormal test results – which typically suggest a problem with the fetus – could indicate an underlying issue with the mother, specifically, the possibility of cancer.
Time.news Editor: That’s quite alarming. How frequently might this happen, according to the research?
Dr. Anna Müller: The U.S. study found that in approximately one in 8,000 cases, the test yields results that are inconclusive, meaning they cannot be clarified even with follow-up tests. In these specific cases,fragments of DNA from tumor cells might be detected,leading to the suspicion that the mother could have cancer. However, it’s essential to stress that these are very rare occurrences and should not cause undue panic for all pregnant women undergoing NIPT.
Time.news Editor: Indeed, context is critical! You mentioned that this is not widely understood yet. What should be the next steps for healthcare providers and patients in Germany regarding these findings?
Dr.Anna Müller: First and foremost,healthcare providers need to be informed about these findings so they can appropriately advise patients. Women should be made aware that while NIPT is a valuable tool for assessing fetal health, ther is a very tiny chance it could indicate something concerning about the mother’s health. If an inconclusive result arises, healthcare providers should conduct further investigations, which might include additional blood tests or imaging studies. this proactive approach can help ensure maternal well-being.
Time.news Editor: Considering the study’s implications, what advice do you have for expectant mothers undergoing NIPT? Should they be worried?
Dr. Anna Müller: I would advise expectant mothers to remain calm. While the facts from the study is significant, it’s crucial to recognize that the likelihood of encountering such results is low. it’s more critically important to view NIPT as a helpful screening tool rather than a diagnostic test. Women should discuss any concerns with their healthcare providers and ensure open dialog about their health and that of their babies. Education about the potential implications of the test, as the study suggests, is key to navigating this process safely and effectively.
Time.news Editor: excellent points, Dr. Müller. Before we wrap up, are there any additional thoughts you’d like to share regarding the future of prenatal testing?
Dr. Anna Müller: Absolutely. As technology advances, we may see further improvements in how we interpret the results of prenatal tests. Research is continually evolving, and with it, we’ll likely find better ways to ensure both fetal and maternal health. It’s an exciting time in the field of prenatal care, and I’m hopeful that with continued research, we’ll narrow down these unexpected findings into clearer guidelines and preventive measures.
Time.news Editor: Thank you, Dr. Müller, for providing us with your expertise on this critically important issue. It’s crucial that both healthcare professionals and patients are informed about these developments as they navigate pregnancy.
Dr. Anna Müller: Thank you for the chance to discuss this vital topic. It’s all about ensuring healthy outcomes for mothers and their babies!
Time.news Editor: Indeed. Thank you to our readers for joining us today. We hope this conversation has provided you with valuable insights into the world of non-invasive prenatal testing.