Blood test that detects genetic disorders in fetuses could help in mom’s early cancer diagnosis
Silent cancers in mothers can be detected by a new blood test that is meant to screen fetuses for genetic disorders like Down syndrome, according to a study out of Tufts Medical Center. Published Monday in the Journal of the American Medical Association, the study looked into eight cases of abnormal test results that were caused by the mother’s cancer DNA in the samples, not by fetal defects.
“They said babies with the chromosomal issues they found in my sample typically don’t survive. I was freaking out. I didn’t know what was going on”, said one of the study’s participants, San Francisco resident Jenny Bernstein, 40.
However, it was learnt after further testing that the baby was doing fine. The source of the abnormal results was revealed two months after when Bernstein complained of breathing problems and shoulder pain. She was sent into the emergency room and detected with breathing problems and shoulder pain.
Bernstein said further testing must be done if a woman gets a false positive to determine health hazards for the mom, not for the fetus.
The study results were highly unexpected, said lead researcher Dr. Diana Bianchi, executive director of the Mother Infant Research Institute at Tufts Medical Center. She stressed on the importance of making women aware of this possibility. Bianchi said the test results are needed to be confirmed with additional tests like amniocenteses.
Brigham and Women’s Hospital geneticist Dr. Robert Green said unanticipated results can be produced by all medical testing and genetic testing.