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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. It represents the risk based on a priori risk combined with the Panorama test result.

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:Likelihood:Pt:WBC.DNA+Plas.cfDNA:Qn:Dosage of chromosome specific cf DNA
Long Common Name
Fetal Monosomy X risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
Short Name
Fet Ms X risk WBC.DNA+cfDNA Qn
Display Name
Monosomy X risk Dosage of chromosome-specific cfDNA Qn (Plasma cell-free+WBC DNA)
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
    Likelihood
    LP185777-2
  • Time
    Pt
    LP6960-1
  • System
    WBC.DNA+Plas.cfDNA
    LP185797-0
    • System Core
      WBC.DNA+Plas.cfDNA
      LP185797-0
    • Super System
      NULL
       
  • Scale
    Qn
    LP7753-9
  • Method
    Dosage of chromosome specific cf DNA
    LP172871-8

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.50
Last Updated
Version 2.73 (MIN)
Change Reason
Added "Fetal" to Component to clarify that the result is about the fetus.
Order vs. Observation
Both

Member of these Panels

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

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Chromozom X monozomie riziko u plodu:Pravděpodobnost:Časový bod:DNA volná cirkulující (cfDNA) a DNA leukocytů (WBC DNA):Kvantitativní:Dávkování chromozomálně specifické cfDNA
el-GRGreek (Greece)Κίνδυνος εμβρυικής μονοσωμίας Χ:Πιθανότητα:Pt:Αριθμός λευκών αιμοσφαιρίων.DNA+Πλάσμα.cfDNA:Qn:Δοσολογία ειδικού χρωμοσωμικού cf DNA
Synonyms: MOLPATH Pt Qn Αριθμός λευκών αιμοσφαιρίων Αριθμός λευκών αιμοσφαιρίων.DNA+Πλάσμα.cfDNA Δοσολογία ειδικού χρωμοσωμικού cf DNA Κίνδυνος εμβρυικής μονοσωμίας Χ Πιθανότητα Πλάσμα Πλάσμα.cfDNA
es-ESSpanish (Spain)Riesgo de monosomía X:Probabilidad:Punto temporal:ADN en plasma libre de células y leucocitos:Qn:Dosificación de ADN ccf de cromosoma específico
Synonyms: Cuantitativo
es-MXSpanish (Mexico)Riesgo de monosomía X fetal:Probabilidad:Punto temporal:Libre de células plasmáticas + ADN de leucocitos:Cuantitativo:Dosis de cfDNA cromosómico específico
fr-FRFrench (France)Risque de monosomie X foetale:Probabilité:Ponctuel:Leucocytes ADN+Plasma avec ADN libre circulant:Numérique:Dosage d'ADN libre circulant spécifiques aux chromosomes
it-ITItalian (Italy)Monosomia X, rischio:Probabilità:Pt:WBC.DNA+Plas.cfDNA:Qn: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
zh-CNChinese (China)胎儿单体型 X 风险:似然性:时间点:白细胞.DNA+血浆.cfDNA:定量型: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 分子病理学;分子病理学试验 可用数量表示的;定量性;数值型;数量型;连续数值型标尺 可能性;似然;可能 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

Example Units

UnitSource
{risk}Example UCUM Units

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=75567-8