Release date: 2015-06-15
According to a paper published in the June 5 issue of JAMA Oncology, non-invasive prenatal testing (NIPT) is to detect whether the fetal chromosomes are normal, but occasionally there are unexpected consequences. This test can also detect malignant tumors in the mother's body.
Researchers at the University of Leuven in Belgium reported that of the 4000 non-invasive prenatal tests performed by them, 3 had abnormal genomic results and were later confirmed to be maternal tumors. This test "can achieve accurate detection and treatment of maternal tumors during pregnancy," the authors write.
NIPT becomes a prenatal testing program
At present, non-invasive prenatal testing is rapidly becoming a major prenatal testing content. It detects fetal aneuploidy by scanning cell-free fetal DNA in maternal plasma. Similar to placental DNA, cell-free tumor DNA also appears in plasma and may be accidentally detected.
Previous studies have shown that false positive or ambiguous NIPT results are sometimes due to maternal tumors. For example, the researchers published a typical case in Prenatal Diagnosis. NIPT showed aneuploidy on fetal chromosomes 13 and 18, but amniocentesis and ultrasonography could not confirm this result. It was not until the baby gave birth to the baby that it was discovered that the mother had cancer.
In this study, Belgian researchers studied 4,000 women who underwent NIPT testing and found three cancers, a frequency that is consistent with the incidence of cancer in the general population.
They found that three of the maps had abnormal quality scores, and the genome-wide map was reminiscent of cancer-related copy number variation. All three women were referred to a systemic MRI scan and found a tumorous mass, including one bilateral ovarian cancer, one follicular lymphoma, and one Hodgkin's lymphoma. Array CGH or FISH assays confirm the results of cell-free DNA testing, indicating that even if NIPT is not designed to detect tumors, it does.
After that, two patients successfully received treatment. Patients with ovarian cancer were treated after delivery, while patients with Hodgkin's lymphoma were treated during pregnancy and gave birth to a healthy girl. Patients with follicular lymphoma are not treated because it grows slowly and may not require treatment for many years.
"Because cancer-related symptoms may be masked, especially during pregnancy, we believe that the identification of maternal cancer can be a potential added value for NIPT," the authors write in the article.
Coincidentally, Sequenom's scientists earlier this year showed that about 40 patients had abnormal genetic maps when using the company's products for prenatal testing, suggesting that the mother may have cancer. After that, at least 26 women were confirmed to have breast cancer, colorectal cancer and uterine cancer.
Source: Bio-Exploration
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