By Anna Nowogrodzki – MIT Technology Review.
Mothers-to-be expecting to learn about chromosomal defects from a non-invasive prenatal test sometimes instead learn they may have cancer.
Biology professor Erin Lindquist was in the middle of class when she got the phone call telling her that a prenatal test had returned abnormal results. Lindquist, who was 36 and pregnant with her second child, had had noninvasive prenatal testing (NIPT), which looked for abnormal chromosomes in her blood. Since about 10 percent of DNA in maternal blood comes from the fetus, this test is used to detect fetal genetic abnormalities. The results were “very devastating,” says Lindquist: an extra copy of chromosome 13 and a missing copy of chromosome 18.
As recommended, she immediately followed up with amniocentesis, a more invasive test. The amniocentesis showed that the fetus was normal: the NIPT results had been a false positive. Her son Jaxson was born healthy on October 4, 2012.
Less than 48 hours after Jaxson’s birth, Lindquist was diagnosed with cancer, eventually identified as an advanced form of a rare cervical cancer that had metastasized to her bones. The abnormal chromosomes in the prenatal test had been hers, not her son’s. Hers was the first case, published in a 2013 paper in Prenatal Diagnosis, in which a mother’s cancer was visible in prenatal test results.
On Monday, the Journal of the American Medical Association published a paper showing that noninvasive prenatal tests have pointed to several more cancer cases. The authors looked at prenatal testing data from eight mothers with cancer diagnoses (including Lindquist) to see if signs of the cancer were visible in those test results…read the full article.
[hr] Source: MIT Technology Review
Journal: Prenatal Diagnosis