Amazing stuff, but maybe bad news for the mother to be! Cancer is history (soon)!
This is probably the last thing a pregnant woman wants to learn! Her male partner may also be in shock.
Apparently, it was not easy to establish/verify that some of the pregnant women indeed had cancer.
"... But roughly 1 in 8000 [pregnant women] who take this [prenatal] test don’t get a straightforward result—instead, it can’t be deciphered. ... Based on past research, she suspected that at least some of these women had cancer, and that their tumors were shedding chromosomally abnormal DNA into their bloodstream, skewing the prenatal test results. Now, 5 years into an ongoing study of people with inconclusive tests, it seems her hunch was right: About half of them do, indeed, have cancer.
Out of 107 participants who underwent a whole-body MRI scan (which is safe in pregnancy), cancers—primarily lymphomas, but also colon, breast, and other solid tumors—were detected in 52, with more than half of them exhibiting no symptoms. A woman with Ewing sarcoma had a tumor “the size of a grapefruit,” says Bianchi.
The researchers behind the study suggest that anyone who gets this type of prenatal test result seriously consider further testing for cancer. Among the patients in the new research paper, six died of their disease, but 34 are in remission. ..."
"Pregnancy comes with a slew of check-ups and screenings to monitor both the health of the fetus and maternal complications such as gestational diabetes. But a routine prenatal test for chromosomal abnormalities in the developing baby can, in rare cases, also turn up a surprising variety of preexisting maternal cancers, a study ... finds. ...
With advancing technology, screening for fetal abnormalities has galloped ahead, and the test behind the new study became widespread about 10 years ago. Called cell-free DNA sequence analysis or simply noninvasive prenatal testing (NIPT), the procedure involves taking a maternal blood sample at least 10 weeks into pregnancy. Free-floating DNA—any that is not contained within a cell—is then isolated from the sample and sequenced. Some of this DNA is from the placenta and mirrors the fetus’; most is from the parent’s own cells. Typically, results are either normal, indicating the fetus doesn’t have certain chromosomal disorders such as Down syndrome, or abnormal, indicating it likely does.
But for a tiny number of cases, roughly one in 8000, there’s a third outcome—a finding that can’t be deciphered, even after repeat testing. “These results just do not fit in the box” and are considered “uninterpretable,” ..."
From the abstract:
"Background
Cell-free DNA (cfDNA) sequence analysis to screen for fetal aneuploidy can incidentally detect maternal cancer. Additional data are needed to identify DNA-sequencing patterns and other biomarkers that can identify pregnant persons who are most likely to have cancer and to determine the best approach for follow-up.
Methods
In this ongoing study we performed cancer screening in pregnant or postpartum persons who did not perceive signs or symptoms of cancer but received unusual clinical cfDNA-sequencing results or results that were nonreportable (i.e., the fetal aneuploidy status could not be assessed) from one of 12 different commercial laboratories in North America. We used a uniform cancer-screening protocol including rapid whole-body magnetic resonance imaging (MRI), laboratory tests, and standardized cfDNA sequencing for research purposes with the use of a genomewide platform. The primary outcome was the presence of cancer in participants after the initial cancer-screening evaluation. Secondary analyses included test performance.
Results
Cancer was present in 52 of the 107 participants in the initial cohort (48.6%). The sensitivity and specificity of whole-body MRI in detecting occult cancer were 98.0% and 88.5%, respectively. Physical examination and laboratory tests were of limited use in identifying participants with cancer. Research sequencing showed that 49 participants had a combination of copy-number gains and losses across multiple (≥3) chromosomes; cancer was present in 47 of the participants (95.9%) with this sequencing pattern. Sequencing patterns of cfDNA in which there were only chromosomal gains (multiple trisomies) or only chromosomal losses (one or more monosomies) were found in participants with nonmalignant conditions, such as fibroids.
Conclusions
In this study, 48.6% of participants who received unusual or nonreportable clinical cfDNA-sequencing results had an occult cancer. Further study of DNA-sequencing patterns that are suggestive of occult cancer during prenatal screening is warranted. ..."
Unusual genetic results in prenatal tests can also flag cancers—in the mom "A new study found lymphomas, colon cancer, and breast cancer following rare fetal test result during pregnancy."
Prenatal cfDNA Sequencing and Incidental Detection of Maternal Cancer (limited public access)
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