Precision medicine: What to know about cell-free DNA screening

With more women seeking tests for common chromosome conditions in pregnancy, many are now opting for newly developed non-invasive cell-free DNA (cfDNA) screening. But like all screening tests, it has limitations and isn ’t appropriate for all patients. Find out how cfDNA works and which of your patients may benefit from the screening. Anew continuing medical education (CME) module, developed by AMA in partnership with Scripps Translational Science Institute and The Jackson Laboratory, is helping physicians understand what the test detects, which patients benefit most from it, what to consider when ordering the test and a lot more.First, how cfDNA screening works Prenatal cfDNA screening detects small fragments of fetal DNA released by placental cells into the mother ’s blood stream. cfDNA screening looks for a relative increase or decrease in specific regions of the fetal DNA that would suggest the presence of a chromosome condition. The screening is now being offered for trisomies 21, 18 and 13. Some tests also include sex chromosome conditions and a few conditions caused by chromosomal micro-deletions or micro-duplications, but research is still underway to verify their clinical validity. Unlike other maternal serum screening tests, cfDNA cannot detect structural birth defects, so additional testing may be necessary. Screening for cfDNA is not a diagnostic test, but rather a screening test. Results can only determine if a woman is at increased or decreased risk for ...
Source: AMA Wire - Category: Journals (General) Authors: Source Type: news