Rekord LOINC: 96978-2

This panel includes quantitative and qualitative risk terms for aneuploidies, including trisomy 13, 18 and 21, monosomy X, and triploidy, as well as the 22q11.2 microdeletion. Noninvasive prenatal screening is used to assess fetal risk for various genetic conditions without requiring invasive maternal procedures such as amniocentesis or chorionic villus sampling. Cell-free DNA (cfDNA) in maternal plasma comes from both fetal and maternal sources, and depending on the technology used, this DNA can be used to determine fetal risk for a variety of conditions including aneuploidy (e.g., trisomy 21, monosomy X) and microdeletions (e.g., 22q11.2 deletion). This panel was developed for, but is not limited in use to, Natera's Panorama aneuploidy + 22q11.2 deletion prenatal test, which incorporates SNP analysis of maternal white blood cell DNA with combined maternal and fetal cfDNA SNP analysis. Natera's proprietary informatics analysis method (NATUS) effectively subtracts the maternal genotype from the cfDNA genotype and analyzes the remaining fetal cfDNA genotype for certain aneuploidies and microdeletion syndromes.

DNA leukocytów i wolnokrążące DNA w osoczu Panel nieinwazyjnych badań prenatalnych w kierunku aneuploidii u płodu i delecji 22q11.2 wolnokrążące DNA w osoczu