Version 2.77

Description

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 various platforms have been developed using cfDNA to determine fetal risk. Natera's Panorama prenatal screening test uses a single blood sample from a pregnant woman, and using their proprietary informatics analysis method (NATUS), effectively subtracts the maternal genotype (from WBC DNA) from the cfDNA genotype and analyzes the remaining fetal cfDNA genotype for a variety of conditions including aneuploidy (e.g., Trisomy 21, Monosomy X) and microdeletions (e.g., 22q11.2 deletion). Specific results are typically reported for each individual condition and summarized for the report as a whole -- if the risk of any individual condition is high, the overall interpretation is "high risk," and if all the individual risks are low, the overall interpretation is "low risk." In addition, the genetic counselor who reviews the results may add specific interpretation details or follow-up recommendations to the report. Source: Regenstrief LOINC

Basic Part Properties

Part Display Name
Comment on overall fetal aneuploidy and microdeletion risk
Part Type
Component (Describes the core component or analyte measured)
Created On
2014-09-26
Construct for LOINC Short Name
Comment aneu microdel risk

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP185985-1

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) 关于胎儿非整倍体性与染色体微缺失总体风险的遗传咨询师意见
Synonyms: 胎儿非整倍体性（非整倍体型、非整倍体、异倍体、非整倍性、异倍性、非整倍态、异倍体性）与染色体微缺失（微缺失、微细缺失、微缺、微缺损、微删除、微丢失）总体（整体、大体）风险（危险性、风险性、危险）
es-ES Spanish (Spain) Comentario de consejo genético en el riesgo general de aneuploidía fetal y microdeleción
it-IT Italian (Italy) Commento su rischio generale microdelezione e aneuploidaia fetale
tr-TR Turkish (Turkey) Tüm fetal aneuploidi ve mikrodelesyon riski genetik danışman önerisi