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

LP185988-5   Comment on fetal Monosomy X risk
Monosomy X risk refers to the fetus's risk of having monosomy X, also known as Turner syndrome. The risk can be estimated based on gestational age as well as prenatal genetic testing of fetal DNA.Monosomy X is caused by the presence of a single normal copy of chromosome X in each cell rather than 2 normal copies of X or one X and one Y chromosome. In many cases, critical portions of the second X chromosome may be missing rather than the entire chromosome. Turner syndrome is associated with ovarian dysfunction, short stature and other characteristic physical features, and up to half of girls with Turner syndrome have congenital heart disease. Turner syndrome is not associated with cognitive delay. The general population risk of monosomy X is about 1 in 2,500 live female births, and does not change with maternal age. [MedlinePlus Condition: turner-syndrome] Source: Regenstrief LOINC, GHR: Turner syndrome

LP185988-5   Comment on fetal Monosomy X 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 Monosomy X risk
Property
Txt
Time
Pt
System
WBC.DNA+Plas.cfDNA
Scale
Nar
Method
Dosage of chromosome specific cf DNA

Additional Names

Short Name
Fet Mon X 13 risk comment
Display Name
Comment on Monosomy X risk Dosage of chromosome-specific cfDNA Nar (Plasma cell-free+WBC DNA)
Consumer Name Alpha Get Info
Comment on Monosomy X Risk

Basic Attributes

Class
MOLPATH
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 Monosomía X: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 monosomía X fetal:Texto:Punto temporal:Libre de células plasmáticas + ADN de leucocitos:Narrativo:Dosis de cfDNA cromosómico específico
fr-FR French (France) Risque monosomie X 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 Monosomia X: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 monosomia X Testo
pl-PL Polish (Poland) Komentarz dotyczący ryzyka monosomii X u płodu:tekst:punkt w czasie:pozakomórkowy DNA leukocytów w osoczu:opisowy:dawkowanie swoistego dla chromosomu pozakomórkowego DNA
zh-CN Chinese (China) 关于胎儿单体型 X 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 关于胎儿单体型 X （X 单染色体症、特纳综合征、Turner 综合征、杜纳综合征、透纳氏症、透纳氏症候群、乌尔里希-特纳综合征、Ullrich-Turner 综合征、性腺发育不全、生殖腺发育不全、性腺发育障碍、性腺发育不良、性腺生殖力不全、性腺发育障碍症）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）;Genetic counselor comment on Turner syndrome risk;Genetic cou 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 X 单染色体症风险（危险性、风险性、危险）;特纳综合征风险;Turner 综合征风险;杜纳综合征风险;透纳氏症风险;透纳氏症候群风险;乌尔里希-特纳综合征风险;Ullrich-Turner 综合征风险;性腺发育不全风险;生殖腺发育不全风险;性腺发育障碍风险;性腺发育不良风险;性腺生殖力不全风险;性腺发育障碍症风险;Turner syndrome risk;Ullrich-Turner syndrome risk;Gonadal dysgenesis risk 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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