Prenatal Genetic Testing May Detect Maternal Cancer

Currently, noninvasive prenatal genetic testing is widely available to test for chromosomal abnormalities such as Down syndrome and trisomy 18. A new study has found that the procedure may have a benefit for the mother: it may detect an early stage cancer. The study was published online on June 5 in the journal JAMA Oncology by Belgian researchers.

Genetic Tests For Breast Cancer

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The study authors note that noninvasive prenatal testing for fetal genetic abnormalities is focused primarily on the detection of the most common aneuploidies, trisomies 21 (Down syndrome), 18, and 13. However, gene sequencing not only detects fetal trisomies (an extra chromosome) but also other chromosomal abnormalities in the fetus. They explain that the application of a similar gene sequencing approach to DNA in the blood plasma of cancer patients has recently been shown to detect tumor-associated information. Therefore, they developed a gene sequencing procedure that not only checked for the common trisomies but also maternal genetic abnormalities.

The researchers found that during noninvasive prenatal testing of more than 4,000 pregnancies by concurrent sequencing of maternal plasma DNA, three abnormal genome profiles were found. A maternal cancer was suspected, and those three patients were referred for whole-body magnetic resonance imaging (MRI). The MRIs revealed an ovarian carcinoma, a follicular lymphoma, and a Hodgkin lymphoma; each of these malignancies was confirmed by subsequent pathology and genetic assessments.

The authors concluded that maternal DNA sequencing for noninvasive prenatal testing may also provide accurate presymptomatic detection of maternal cancers. They noted that more studies are needed to validate their findings; however, they are confident they are closer to an effective, noninvasive diagnostic technique for early-stage cancers.

Noninvasive Prenatal Genetic Testing

In a press release, principal investigator professor Joris Vermeesch, explained: “During pregnancy, cancer-related symptoms may well be masked; fatigue, nausea, abdominal pain, and vaginal blood loss are easily interpretable as a normal part of being pregnant. NIPT [noninvasive prenatal testing] offers an opportunity for the accurate screening of high-risk women for cancer, allowing us to overcome the challenge of early diagnosis in pregnant women.” Dr. Vermeesch is head of the laboratory for cytogenetics and genome research at Katholieke Universiteit Leuven–University of Leuven, University Hospitals, Leuven, Belgium.

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