Version 2.78

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

LP185992-7   Comment on fetal Prader-Willi syndrome risk
Prader-Willi syndrome (PWS) risk refers to the fetus's risk of being affected by PWS. The risk for the fetus can be derived from the general population risk as well as prenatal genetic testing of fetal DNA. PWS is caused by the functional loss of several genes on chromosome 15. Normally, only the paternal copy of these genes is active due to genomic imprinting, and in PWS, the paternal copy of these genes is missing. The genetic basis for PWS is the inverse of the basis for Angelman syndrome, in which the maternal copy of a specific gene on chromosome 15 is missing. About 70% of PWS cases are due to the deletion of a portion of the paternal chromosome 15, and another 25% are due to the presence of two maternal chromosome 15 copies (called uniparental disomy, meaning two copies from one parent) instead of one maternal and one paternal.
PWS is associated with different characteristics over time. Infants with PWS have poor growth, developmental delay, and weak muscle tone. Children with PWS develop a compulsion to eat, which leads to obesity and type 2 diabetes mellitus. PWS is associated with mild to moderate cognitive delay, behavior problems, characteristic facial features, and delayed puberty. The general population risk of PWS is about 1 in 10,000 - 30,000 live births, and does not change with maternal age. [MedlinePlus Condition: prader-willi-syndrome] Source: Regenstrief LOINC, GHR: Prader-Willi syndrome

LP185992-7   Comment on fetal Prader-Willi syndrome 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 Prader-Willi syndrome risk
Property
Txt
Time
Pt
System
WBC.DNA+Plas.cfDNA
Scale
Nar
Method
Dosage of chromosome specific cf DNA

Additional Names

Short Name
Fet PWS risk comment
Display Name
Comment on Prader-Willi syndrome risk Dosage of chromosome-specific cfDNA Nar (Plasma cell-free+WBC DNA)
Consumer Name Alpha Get Info
Fetal Comment on prader-Willi syndrome risk

Basic Attributes

Class
MOLPATH.DEL
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
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

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Comentario de consejo genético en riesgo de síndrome de Prader-Willis: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 consejero genético sobre el riesgo de síndrome de Prader-Willi fetal:Texto:Punto temporal:Libre de células plasmáticas + ADN de leucocitos:Narrativo:Dosis de cfDNA cromosómico específico
fr-FR French (France) Risque syndrome de Prader-Willi foetal (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 sindrome di Prader-Willi:Txt:Pt:WBC.DNA+Plas.cfDNA:Nar:Dosaggio di DNA libero fetale circolante cromosoma specifico
Synonyms: Delezione genetica 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 sindrome di Prader Willi Testo
zh-CN Chinese (China) 关于胎儿普拉德-威利综合征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: 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 关于胎儿普拉德-威利综合征（Prader-Willi 综合征、小胖威利症候群、普瑞德威利症候群、普瑞德威利氏症候群、普拉德威利症候群）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.基因缺失;分子病理学.缺失;分子病理学试验.基因缺失;分子病理学试验.缺失;分子病理学试验类.缺失;基因缺失;缺失 分子病理学;分子病理学试验 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 Prader-Willi 综合征风险（危险性、风险性、危险）;小胖威利症候群风险;普瑞德威利症候群风险;普瑞德威利氏症候群风险;普拉德威利症候群风险 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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