Irregular prenatal blood check outcomes may point out 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 for chromosomal issues 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 determine an further chromosome or to find out the newborn’s intercourse. The examine seems within the New England Journal of Medication.

Along with fetal DNA, cfDNA testing detects DNA launched from the mom’s pink blood stem cells and, sometimes, irregular DNA which will outcome from an undetected most cancers within the asymptomatic pregnant particular person. NIH’s ongoing IDENTIFY examine seeks to be taught extra about irregular cfDNA check outcomes that would 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), normal medical diagnostic exams, and cfDNA sequencing.

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

Different irregular cfDNA outcomes have 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 extra research to validate cfDNA sequencing patterns described by the investigators that would point out most cancers on this younger, pregnant inhabitants with out apparent medical signs.

The examine was performed by researchers in NIH’s Nationwide Human Genome Analysis Institute, Nationwide Most cancers Institute, and Eunice Kennedy Shriver Nationwide Institute of Little one Well being and Human Growth (NICHD).