In some pregnancies, especially high-risk ones, it is recommended too perform more complex genetic tests, such as amniocentesis. According to a study published in the journal, this analysis of cell-free DNA (cfDNA) sequences to detect fetal aneuploidies (chromosomal abnormalities) can also incidentally detect maternal cancer.The New England Journal of Medicine‘.
According to the study IDENTIFYafter carrying out the tests cancer screening In 107 pregnant women and postpartum mothers without symptoms of cancer but who had received unusual clinical cfDNA sequencing results, researchers detected cancer in 48 percent of the women.
Previously undetected cancers in the 48.6% of pregnant women who had abnormal results on prenatal cell-free DNA (cfDNA) tests used to detect chromosomal disorders in the fetus included colorectal, breast, lung, and pancreatic cancers, as well as lymphoma. cholangiocarcinoma and renal cell carcinoma.
They detect DNA released from the mother’s red blood cells and, occasionally, abnormal DNA that may result from undetected cancer in the asymptomatic pregnant person.
The results now published refer to cancer screening test for 107 participants to IDENTIFY using whole-body magnetic resonance imaging (MRI), standard medical diagnostic tests, and cfDNA sequencing. A total of 52 participants were diagnosed with cancer.
For this group, the authors found that whole-body MRI was the most effective method for detecting cancer. Standard diagnostic techniques, such as medical history, symptom assessment, and physical examination, had limited effectiveness in identifying a participant’s cancer or its location.
However, in an editorial accompanying the study, Neeta L. Vora del Department of Obstetrics and Gynecology, Maternal Fetal Division, University of North carolina at Chapel Hill (USA), warns that even though in 2013 the case of a pregnant woman was described in her center who, after receiving positive results for trisomy 13 and monosomy 18 through a cfDNA analysis, was diagnosed with neuroendocrine carcinoma previously undetected metastatic disorder, and as then more cases of maternal cancer randomly identified through this type of testing have been reported, implementing this system would come with a number of requirements.
First, he writes, educate obstetric providers and oncologists about whether cfDNA screening can detect maternal cancer. He also points to the lack of coverage for whole-body MRIs and questions how patients can access them outside of research studies. he insists on the importance of improving education, standardization in laboratories and access to imaging methods, suggesting multidisciplinary collaboration to develop appropriate workflows for pregnant patients with abnormal cfDNA results.
Currently, no screening is recommended for cancer in healthy women.
More critical is Isabel Portillo, coordinator of the Colorectal and prenatal cancer screening of the Basque Health Service-osakidetza and researcher in the Cancer biomarkers group Biobizkaia Health Research Institutewho assures that ”no screening is currently recommended in healthy women for cancer. “Early diagnosis of any cancer is the suggestion in case of signs or symptoms.”
In the statements a Scientific multimedia centeralso secretary of the Board of Directors of Spanish Society of Epidemiologywarns that ”this type of ‘screening’ can create alarm in the population and accidental results of unneeded tests and treatments in asymptomatic people”.
It should also be noted that the study refers to a very small sample of women and that the figure of a «48% of pregnant/postpartum women are affected by cancer “It’s too high for the incidence of cancer at those ages.”
The biggest limitation is that this is an exploratory study and the performance of genetic tests without risk factors (unspecified) is not supported by scientific evidence.
in this sense, the authors of the research recognize the need for further studies to validate the cfDNA sequencing patterns described by the researchers that could indicate cancer in this young, pregnant population without obvious clinical symptoms.
How can healthcare providers balance the advantages of early cancer detection with the emotional well-being of pregnant patients?
Title: Uncovering Hidden Dangers: A Conversation on Prenatal Genetic Testing and Cancer Detection
Editor (Time.news): Today, we have the pleasure of speaking with Dr. Emily Carter, a leading expert in maternal-fetal medicine and genetics. Dr. Carter, thank you for joining us!
Dr. Emily Carter: Thank you for having me! I’m excited to discuss these crucial findings.
Editor: Let’s dive right in. recently, a study published in The New England Journal of Medicine revealed that genetic testing, typically used to detect fetal abnormalities during pregnancy, can also incidentally spot maternal cancers. This seems groundbreaking. Can you elaborate on how this works?
Dr. Carter: Absolutely! the study highlights the use of cell-free DNA (cfDNA) tests in high-risk pregnancies. these tests analyze fragments of DNA that circulate in the motherS bloodstream. While we primarily use them to look for chromosomal abnormalities in the fetus, they can sometimes also reveal abnormal DNA that signals the presence of undetected cancer in the mother.
Editor: That sounds both promising and concerning. The study referenced found that about 48% of pregnant women who showed abnormal results on these tests were later diagnosed with cancer. What types of cancers were identified?
Dr. Carter: Yes,among those diagnosed,we saw a range of previously undetected cancers,including colorectal,breast,lung,and pancreatic cancers,as well as lymphomas and renal cell carcinoma. It’s critical to note that these women were initially asymptomatic, meaning they had no obvious signs of illness.
Editor: That is indeed alarming. It raises questions about how we might need to rethink our approach to prenatal care. The researchers utilized whole-body MRI alongside cfDNA sequencing—how effective were these methods in identifying cancer?
dr. Carter: The study revealed that whole-body MRI was the most effective method for detecting cancer among the participants. Traditional diagnostic techniques, such as assessing medical history or performing physical examinations, had limited success in identifying the cancer and its specific locations.
Editor: This underscores the importance of integrating advanced imaging techniques in prenatal assessments, doesn’t it?
Dr. carter: Exactly. The implications are notable. We may need to adopt a new standard of care that not only focuses on fetal health but also considers maternal health more thoroughly during pregnancy.
Editor: Though, there are ethical considerations in play here, particularly regarding patient anxiety and the potential for over-diagnosis. In an accompanying editorial, Neeta L. Vora raised warnings about the implications of these findings—what do you think about her concerns?
Dr. carter: Dr. Vora brings up a valid point. While the potential for early cancer detection is exciting, we must tread cautiously. Increased screenings might lead to heightened anxiety for mothers and possibly unnecessary interventions. Balancing the benefits of early detection with the psychosocial impact on the patient is crucial.
Editor: That is a vital consideration. Moving forward, how do you see the integration of these findings influencing prenatal care and overall maternal health management?
Dr.Carter: I hope we can start developing protocols that incorporate targeted cancer screenings for certain populations while also ensuring that we counsel patients thoroughly so they understand what these tests can reveal. the goal is to enhance maternal care without compromising emotional well-being.
Editor: Dr. Carter, it sounds like we are on the cusp of a significant evolution in prenatal health care. Thank you for sharing your expertise with us today!
Dr. Carter: Thank you for shining a light on this important issue. It’s a critical conversation that needs to continue as we advance in our understanding and technology.
Editor: Indeed. We look forward to following this field as it progresses. Thank you to our readers for joining us.stay tuned for more updates on health and science!
