Version 2.77

Term Description

This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions.
Source: Regenstrief LOINC

Part Descriptions

LP185987-7   Comment on fetal Trisomy 21 risk
Trisomy 21 risk refers to the fetus's risk of having trisomy 21. The risk can be estimated based on maternal age, prenatal genetic testing of fetal DNA, various maternal lab tests, and fetal nuchal translucency or nuchal fold measurements. Trisomy 21, also called Down syndrome, is caused by the presence of three copies of either the entire chromosome 21 or a crucial region of chromosome 21 in each cell rather than two. Down syndrome is associated with cognitive delay, various forms of congenital heart disease, hearing loss, and leukemia, and characteristic physical features. The risk for Down syndrome increases with increasing maternal age. The general population risk of Down syndrome is 1 out of 650 to 1,000 live births; for a 30-year-old woman, the risk is 1 out of 1,000, while for a 40-year-old woman it nears 1 out of 100. [OMIM: 190685] Source: Regenstrief LOINC, OMIM: 190685

LP185987-7   Comment on fetal Trisomy 21 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 Trisomy 21 risk
Property
Txt
Time
Pt
System
WBC.DNA+Plas.cfDNA
Scale
Nar
Method
Dosage of chromosome specific cf DNA

Additional Names

Short Name
Fet Ts 21 risk comment
Display Name
Comment on Trisomy 21 risk Dosage of chromosome-specific cfDNA Nar (Plasma cell-free+WBC DNA)
Consumer Name Alpha Get Info
Fetal Comment on trisomy 21 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 Trisomía 21:Texto:Punto temporal:ADN en plasma libre de células y leucocitos:Narrativo:Dosificación de ADN ccf de cromosoma específico
es-MX Spanish (Mexico) Comentario del asesor genético sobre el riesgo de trisomía 21 fetal:Texto:Punto temporal:Libre de células plasmáticas + ADN de leucocitos:Narrativo:Dosis de cfDNA cromosómico específico
fr-FR French (France) Risque trisomie 21 foetale (commentaire du conseiller génétique):Texte: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 Trisomia 21:Txt: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 Patologia molecolare Plasma Punto nel tempo (episodio) Rischio di trisomia 21 Testo Trisomia cromosoma genetica
pl-PL Polish (Poland) Komentarz dotyczący ryzyka trisomii 21 u płodu:tekst:punkt w czasie:pozakomórkowy DNA leukocytów w osoczu:opisowy:dawkowanie swoistego dla chromosomu pozakomórkowego DNA
zh-CN Chinese (China) 关于胎儿三体型 21 风险的遗传咨询师意见:文本型属性: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: 21 三体型综合征（唐氏综合征、Down 氏综合征、Down 综合征、21 三体性、21 号染色体三体型、21 号染色体三体性） 21 三体型综合征风险（危险性、风险性、危险）;21 三体型风险;21 三体性综合征风险;21 三体性风险;21 三体综合征风险;21 三体综合症风险;21 号染色体三体型风险;21 号染色体三体性风险;Down 氏综合征风险;Down 综合征风险;DS;T21 风险;Ts 21 风险;三体性 21 风险;唐氏综合征风险;染色体 21 三体型风险;染色体 21 三体性风险 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 关于胎儿三体型 21 （21 三体型综合征、21 三体型、21 三体性综合征、21 三体性、21 三体综合征、21 三体综合症、21 号染色体三体型、21 号染色体三体性、Down 氏综合征、Down 综合征、DS;T21 、Ts 21 、三体性 21 、唐氏综合征、染色体 21 三体型、染色体 21 三体性）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） 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 文本;文本型;文本属性 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 21 三体型综合征风险（危险性、风险性、危险）;胎儿 21 三体型风险;胎儿 21 三体性综合征风险;胎儿 21 三体性风险;胎儿 21 三体综合征风险;胎儿 21 三体综合症风险;胎儿 21 号染色体三体型风险;胎儿 21 号染色体三体性风险;胎儿 Down 氏综合征风险;胎儿 Down 综合征风险;胎儿 DS;胎儿 T21 风险;胎儿 Ts 21 风险;胎儿 三体性 21 风险;胎儿 唐氏综合征风险;胎儿染色体 21 三体型风险;胎儿染色体 21 三体性风险 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
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