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What It must have been one of the most terrifying moments in Dr. Nasim Koram's life.
The Los Angeles-based nephrologist was getting regular blood work during her second pregnancy, a routine test to check for any chromosomal abnormalities in the fetus, such as Down syndrome.
Coram was healthy and her pregnancy was progressing well. “I didn't think anything of it,” she said.
She was shocked when the test results came back. They were “normal for maternal chromosomal DNA variations”: her baby was healthy, but there was something unusual. About her own health.
Test results can come back as “abnormal” for many reasons, such as noncancerous growths like uterine fibroids. But abnormal results may be related to “very high doses,” Khorram said. Obstetrician- Her gynecologist recommended that she have a full-body MRI or magnetic resonance imaging; He was scanning the body images and found that she had cancer.
“It was one of the scariest moments of my life,” said Khoram, now a 36-year-old mother of two daughters.
“It was not what I expected,” she said. “When someone tells you that you have cancer, the first thing that comes to mind is, 'Would you like to see my daughters grow up?' That's what it says. But I will.
Corram's insurance allowed coverage for a full-body MRI, but she said the hospital she was being cared for declined, saying it wouldn't do full-body scans. Instead, she joined the National Institutes of Health, examining women like hers who had abnormal prenatal DNA-sequencing results. During that study, Khoram received a full-body MRI scan and was diagnosed with stage II Hodgkin lymphoma, a cancer of the lymphatic system.
“One of the reasons I wanted to participate in the NIH study and share my story is that we need a protocol—the health care system, insurers, radiologists—we need to know that more imaging is needed, more testing is needed, and we can't just turn our heads,” Khorram said. He said.
Khoram started chemotherapy immediately after the diagnosis and went on to have a healthy pregnancy.
She completed the treatment two weeks before her daughter was born.
“It's very easy to be overwhelmed by these results, and that's normal,” she said. But I really encourage people to advocate for themselves, to do more investigative work, because it can be a lifesaver.
Khorram is now cancer free. She will have check-ups with her doctors next year so they can monitor her health, but overall she is feeling good.
Now she's focusing on spending a quiet holiday season with her husband and two daughters, who are 3 years and 4 months old.
“My oldest daughter, she is very talented. She is very kind; She is intelligent. While I was in the midst of all this, we did not explain it to her; Because she was only 3, but she knew something was off, and she clung to me,” Koraram said. “My little girl is amazing. I can't believe she is 4 months old. She is always so happy. She is always smiling. I look at her, and I think, 'We're both so lucky to be here.'
Khoram was among 107 volunteers. NIH studyHe investigated how prenatal cell-free DNA sequencing can detect cancer in mothers by chance. Cell-free DNA Or cfDNA It refers to fragments of DNA that circulate in the blood and other body fluids outside of cells.
In the study, the results were published this month New England Journal of MedicineAbout half of the participants with abnormal prenatal DNA-sequencing results – 48.6% – were diagnosed with cancer somewhere in their body.
“First of all, we don't want all pregnant women to worry about the study. This is a small subset, but an important subset,” said Dr. Diana Bianchi, senior author of the new study and director of the Evans Kennedy Shriver National Institute of Child Health and Human Development.
“If you get a result like that, it doesn't mean you have a 48% chance of getting cancer,” she says. “That means you need the work, and it means we have to take the results seriously.”
Prenatal genetic testing is done to identify known genetic conditions Fetal aneuploidyA fetus with Down syndrome has one or more extra chromosomes or one or more chromosomes are missing.
The screening test – which is routinely offered to all pregnant women – involves examining cell-free DNA fragments circulating in the mother's blood.
A fetus is an organ that forms in the uterus during pregnancy. It provides oxygen and nutrients to the fetus while removing harmful waste from the baby.
Prenatal genetic testing can pick up cancer because tumors, like the placenta, shed DNA fragments into the bloodstream, Bianchi said.
“If you take a blood sample, you have a mixture of the mother's fragments that are normally there. You've got the placenta, which is only available if you're pregnant; And now you have a tumor — and you have a combination of these three things and it messes up the outcome,” she said.
All participants in the study enrolled from December 2019 to December 2023 were pregnant or up to two years postpartum; They did not notice any signs or symptoms of cancer but received prenatal DNA sequence results that were abnormal or undiagnosed as part of their standard care.
The researchers used whole-body MRIs and routine diagnostic tests to identify participants with previously undiagnosed cancers.
Of the 107 participants, 52 had abnormal or unreportable sequence results Cancer magicThat is, the disease is present, but the location of the tumor is not known.
A total of 51 participants underwent biopsy to confirm cancer diagnoses. Some of the cancers were later determined to be lymphoma, colorectal and breast. Two of the patients with solid tumors had stage I disease, five had stage II or III, and 13 had stage IV, Bianchi said. Six of the 13 patients with stage IV cancer were still eligible for curative treatment.
Sequence results show a particularly “messy” pattern Multiple chromosomes were found in 47 of the 51 participants. One participant with cancer did not have a sequence result.
The unique pattern in the sequencing results “looks like a very messy Sawtooth pattern involving more than three human chromosomes, and you see lines going up, lines going down, which represent parts of the genome that are missing or duplicated.” Bianchi said.
This suggests that people with this particular sequence may have a higher risk of cancer, “such patients should be identified in a written laboratory report for timely cancer diagnosis,” the researchers wrote.
Other possible reasons behind an abnormal test result are uterine fibroids or placental abnormalities. But when doctors see abnormal test results, the disordered sequence pattern suggests something more serious is going on and the mother would benefit from further testing, Bianchi said.
“There are safe ways to do more testing, and we know we've been able to save some people because we acted quickly,” she said. “We also know that there were other people in the study whose work was delayed until childbirth and who suffered from a delay of several months in the onset of cancer.”
The disordered pattern of chromosomal abnormalities seen in most cancer-related test results is a “very important” finding in the study, said Dr. Britta Weilt, a molecular geneticist at Memorial Sloan Kettering Cancer Center, who was not involved in the new research.
“This is a major finding of the study: that this specific chromosomal abnormality by cfDNA sequencing is associated with maternal cancer,” Weigelt said. “Future studies will likely need to determine whether this particular pattern of errors can be used as a biomarker to detect breast cancer.”
Most of the study participants with cancer – 29, or 55.8% – did not show any symptoms of the disease, 13 or 25% of them had symptoms thought to be due to pregnancy.
“These are really hidden cancers in people,” Bianchi said.
One participant with pancreatic cancer reported abdominal pain that she thought was due to reflux. Said another cancer patient than you. He had rectal bleeding and assumed it was due to hemorrhoids during pregnancy.
“The bottom line of our study is that pregnant women should be treated like everyone else. Their treatment should not be delayed because they are pregnant,” Bianchi said.
“There is a lot of medical data and research studies that show which chemotherapy drugs are safer than others during pregnancy,” she said. Generally speaking, there is good data now that shows that after 19 weeks into pregnancy – mid-pregnancy – you can safely treat it for that second trimester.
The researchers said the sample of participants “does not represent the general pregnant population” and that more research is needed to examine how cell-free DNA sequencing among pregnant women can be used to identify cancer cases on a larger, real-world scale. .
For example, if a patient has an abnormal prenatal DNA sequence test result—and it shows the chaotic pattern associated with cancer—their doctor may use the result as a reason to order an MRI.
Bianchi says this is her hope.
“Because we've shown that MRI imaging is so sensitive, the limitations are whether we can get an MRI in pregnant women with disordered DNA sequencing and whether Medicaid or private insurance will pay for the MRI. Bianchi said. “I hope with these data to show how effective MRIs have been, at least in this case MRIs are paid for because they ultimately save lives.”
It is only estimated 1 in 1,000 women every year Cancer during pregnancy In the US But it might be helpful to have some guidance on what to do if one…