Version 2.78

Part Descriptions

LP185990-1   Comment on fetal Triploidy risk
Triploidy risk refers to the fetus's risk of being affected by triploid syndrome. The risk can be determined by prenatal genetic testing of fetal DNA. Triploid syndrome is caused by the presence of three copies of every chromosome rather than two, for a total of 69 chromosomes rather than the normal 46. The majority of cases are due to two sperm fertilizing a single egg. Most fetuses with triploidy are lost due to miscarriage, and the few infants born with triploidy have multiple birth defects and only survive a few months. [https://www.rarediseases.org] Source: Regenstrief LOINC, NORD: Triploid syndrome

LP185990-1   Comment on fetal Triploidy risk
The genetic counselor's comment regarding risk of a specific disorder or group of disorders is used to convey follow-up recommendations or other information related to the risk result and interpretation. Source: Regenstrief LOINC

Fully-Specified Name

Component
Comment on fetal Triploidy risk
Property
Imp
Time
Pt
System
WBC.DNA+Plas.cfDNA
Scale
Nar
Method
Dosage of chromosome specific cf DNA

Additional Names

Short Name
Fet Triploidy risk comment
Display Name
Comment on Triploidy risk Dosage of chromosome-specific cfDNA Nar (Plasma cell-free+WBC DNA) [Interp]
Consumer Name Alpha Get Info
Comment on fetal triploidy risk

Basic Attributes

Class
MOLPATH.TRISOMY
Type
Laboratory
First Released
Version 2.50
Last Updated
Version 2.73
Change Reason
Release 2.70: COMPONENT: Removed "Genetic counselor" to broaden use since various specialists may provide comments on test results.; Previous Releases: Added "Fetal" to Component to clarify that the result is about the fetus.
Order vs. Observation
Both

Member of these Panels

LOINC Long Common Name
96978-2 Noninvasive prenatal fetal aneuploidy and 22q11.2 deletion panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
75547-0 Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
96977-4 Noninvasive prenatal fetal aneuploidy panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Comentario de consejo genético en riesgo de Triploidía:Impresión/interpretación del estudio:Punto temporal:ADN en plasma libre de células y leucocitos:Narrativo:Dosificación de ADN ccf de cromosoma específico
es-MX Spanish (Mexico) Comentario del consejero genético sobre el riesgo de triploidía fetal:Impresión / interpretación del estudio:Punto temporal:Libre de células plasmáticas + ADN de leucocitos:Narrativo:Dosis de cfDNA cromosómico específico
fr-FR French (France) Risque triploïdie foetale (commentaire du conseiller génétique):Interprétation:Ponctuel:Leucocytes ADN+Plasma avec ADN libre circulant:Résultat textuel:Dosage d'ADN libre circulant spécifiques aux chromosomes
it-IT Italian (Italy) Commento su rischio Triploidia:Imp:Pt:WBC.DNA+Plas.cfDNA:Nar:Dosaggio di DNA libero fetale circolante cromosoma specifico
Synonyms: DNA libero circolante nel plasma Dosaggio di DNA libero fetale circolante cromosoma Globuli bianchi Globuli bianchi+DNA libero circolante nel plasma Impressione/interpretazione di studio Patologia molecolare Plasma Punto nel tempo (episodio) Rischio triploidia Trisomia cromosoma genetica
zh-CN Chinese (China) 关于胎儿三倍体风险的遗传咨询师意见:印象:时间点:白细胞.DNA+血浆.cfDNA:叙述型:染色体特异性 cfDNA 剂量测定
Synonyms: WBC.DNA+血浆.cfDNA;白细胞.DNA 与血浆.cfDNA;白细胞.DNA+血浆循环 cfDNA;白细胞.DNA+血浆循环 DNA;白细胞.DNA+循环游离核酸;白细胞.DNA+血浆游离 DNA;白细胞.DNA+血浆无细胞 DNA WBC;WBCs;白血球;白血细胞 三体型 三体细胞 三染色体性 三染色体细胞 关于胎儿三倍体（三倍性、三体型、三体性、染色体三倍性、三倍态、三倍体、三倍染色体、三倍体染色体）风险（危险性、风险性、危险）的遗传咨询师（遗传病辅导员、基因咨询师、遗传谘询师、基因谘询师）意见（评论、解释、注释、注解、点评） 分子病理学;分子病理学试验 分子病理学试验类.三体性（三体型） 印象是一种诊断陈述，始终是对其他某种观察指标的解释或抽象（一系列检验项目结果、一幅图像或者整个某位病人），而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释 叙述;叙述性文字;报告;报告型;文字叙述;文本叙述型;文本描述;文本描述型 备注 备注;评论;注解;说明;评语 意见 时刻;随机;随意;瞬间 染色体特异性 cf DNA 剂量测定;染色体特异性游离循环 DNA 剂量测定;染色体特异性循环游离 DNA 剂量测定;Cell Free DNA 注解 特异 特异性的 特异的 短评 胎儿三倍体（三倍性、三体型、三体性、染色体三倍性、三倍态、三倍体、三倍染色体、三倍体染色体）风险（危险、危险性、风险性） 血浆循环 cfDNA;血浆循环 DNA;循环游离核酸;血浆游离 DNA;血浆无细胞 DNA;Free circulating/Cell-free DNA;Free circulating DNA 解说 解释 评定 评注 评论 评语 说明

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CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=75573-6