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Term Description

The ordinal risk interpretation (e.g. high risk/low risk or high probability/low probability) of the fetus having monosomy X aneuploidy based on dosage of chromosome specific cell-free DNA (cf DNA) in maternal plasma that contains both fetal and maternal DNA. Results may also be based on the mother's current age, IVF status (self, non-self, or not applicable), and gestational age. This code is based, but not limited in use to, the submitter's test, the Harmony Prenatal Test, a non-invasive prenatal test for screening of fetal aneuploidy.

Part Description

LP185775-6   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

LOINC Names Get Info

Fully-Specified Name
Fetal monosomy X risk:Imp:Pt:Plas.cfDNA:Ord:Dosage of chromosome specific cf DNA
Long Common Name
Fetal Monosomy X risk [Interpretation] based on Plasma cell-free DNA by Dosage of chromosome-specific cfDNA Qualitative
Short Name
Fet Ms X risk Plas.cfDNA Ql
Display Name
Monosomy X risk Dosage of chromosome-specific cfDNA Ql (cfDNA) [Interp]
Consumer Name Alpha Get Info
Fetal Monosomy X Risk

Part Model Get Info

  • Component
    Fetal monosomy X risk
    LP185775-6
    • Analyte
      Fetal monosomy X risk
      LP185775-6
      • Component Numerator
        Fetal monosomy X risk
        LP185775-6
        • Component Numerator Core
          Fetal monosomy X risk
          LP185775-6
        • Component Numerator Core Suffix
          NULL
           
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    Imp
    LP6819-9
  • Time
    Pt
    LP6960-1
  • System
    Plas.cfDNA
    LP185795-4
  • Scale
    Ord
    LP7751-3
  • Method
    Dosage of chromosome specific cf DNA
    LP172871-8

Example Answer List: LL4771-3

Source: Regenstrief LOINC
AnswerCodeScoreAnswer ID
High probabilityLA28478-8
Low probabilityLA28479-6

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.64
Last Updated
Version 2.66 (NAM)
Change Reason
Added "Fetal" to Component to clarify that the result is about the fetus.
Order vs. Observation
Observation

Member of these Panels

LOINCLong Common Name
73967-2Noninvasive prenatal fetal aneuploidy panel - Plasma cell-free DNA

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Chromozom X monozomie riziko u plodu:Interpretace:Časový bod:DNA volná cirkulující (cfDNA):Ordinální:Dávkování chromozomálně specifické cfDNA
el-GRGreek (Greece)Κίνδυνος εμβρυικής μονοσωμίας Χ:Imp:Pt:Πλάσμα.cfDNA:Ord:Δοσολογία ειδικού χρωμοσωμικού cf DNA
Synonyms: Imp MOLPATH Ord Pt Δοσολογία ειδικού χρωμοσωμικού cf DNA Κίνδυνος εμβρυικής μονοσωμίας Χ Πλάσμα Πλάσμα.cfDNA
es-ESSpanish (Spain)Riesgo de monosomía X:Impresión/interpretación del estudio:Punto temporal:ADN en plasma libre de células:Ord:Dosificación de ADN ccf de cromosoma específico
es-MXSpanish (Mexico)Riesgo de monosomía X fetal:Impresión / interpretación del estudio:Punto temporal:ADN libre de células plasmáticas:Ordinal:Dosis de cfDNA cromosómico específico
fr-FRFrench (France)Risque de monosomie X foetale:Interprétation:Ponctuel:Plasma avec ADN libre circulant:Qualitatif:Dosage d'ADN libre circulant spécifiques aux chromosomes
it-ITItalian (Italy)Monosomia X, rischio:Imp:Pt:Plasma.DNA libero circolante:Ord:Dosaggio di DNA libero fetale circolante cromosoma specifico
Synonyms: DNA libero circolante nel plasma Dosaggio di DNA libero fetale circolante cromosoma Impressione/interpretazione di studio Patologia molecolare Plasma Punto nel tempo (episodio) Rischio di monosomia X
zh-CNChinese (China)胎儿单体型 X 风险:印象:时间点:血浆.cfDNA:序数型:染色体特异性 cfDNA 剂量测定
Synonyms: 依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 分子病理学;分子病理学试验 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 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 特异 特异性的 特异的 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

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