Abnormal prenatal blood test results could indicate hidden maternal cancers

Researchers on the Nationwide Institutes of Well being (NIH) discovered beforehand undetected cancers in 48.6% of pregnant individuals who had irregular outcomes for prenatal cell-free DNA (cfDNA) testing used to display screen for chromosomal problems within the fetus.

Cancers included colorectal, breast, lung and pancreatic cancers, in addition to lymphoma, cholangiocarcinoma and renal carcinoma. The screening check analyzes placental DNA fragments circulating within the maternal bloodstream to establish an additional chromosome or to find out the newborn’s intercourse. The research seems within the New England Journal of Medication.

Along with fetal DNA, cfDNA testing detects DNA launched from the mom’s purple blood stem cells and, sometimes, irregular DNA which will end result from an undetected most cancers within the asymptomatic pregnant particular person. NIH’s ongoing IDENTIFY research seeks to be taught extra about irregular cfDNA check outcomes that might point out potential cancers.

For the present evaluation, researchers carried out most cancers screening of 107 IDENTIFY members utilizing complete physique magnetic resonance imaging (MRI), commonplace medical diagnostic assessments, and cfDNA sequencing.

A complete of 52 members had been recognized with most cancers. For this group, the authors discovered that complete physique MRI was the best technique for detecting most cancers. Commonplace diagnostic methods, akin to taking a medical historical past, assessing signs, and bodily examination, had been of restricted use in figuring out a participant’s most cancers or its location.

Different irregular cfDNA outcomes had been attributed to fibroids (benign uterine tumors), placental chromosomes that differed from fetal chromosomes, and clonal hematopoiesis within the mom (a precancerous state that may result in blood cancers). The researchers famous the necessity for added research to validate cfDNA sequencing patterns described by the investigators that might point out most cancers on this younger, pregnant inhabitants with out apparent medical signs.

The research was carried out by researchers in NIH’s Nationwide Human Genome Analysis Institute, Nationwide Most cancers Institute, and Eunice Kennedy Shriver Nationwide Institute of Baby Well being and Human Improvement (NICHD).