LP185985-1
Comment on overall fetal aneuploidy and microdeletion risk
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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
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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、 |
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 |
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