Version 2.80

Term Description

The probability risk for sex chromosome (X & Y) aneuploidy can be determined based on dosage of chromosome specific circulating cell free (ccf) DNA in maternal plasma, the mother's current age and gestational age. The ccf DNA includes both fetal and maternal DNA. This code is based, but not limited in use to, the submitter's test, Harmony Prenatal Test, which is a non-invasive prenatal test intended to aid in the risk determination of fetal aneuploidy as well as trisomy 13, 18 and 21 in women with singleton pregnancies of at least 10 weeks gestational age.

Fully-Specified Name

Component
Fetal chromosome X & Y aneuploidy risk
Property
Likelihood
Time
Pt
System
Plas.cfDNA
Scale
Qn
Method
Dosage of chromosome specific cf DNA

Additional Names

Long Common Name
Fetal Chromosome X and Y aneuploidy risk [Likelihood] based on Plasma cell-free DNA by Dosage of chromosome-specific cfDNA
Short Name
Fet Chr X + Y aneup risk Plas.cfDNA Qn
Display Name
Chr X and Y aneuploidy risk Dosage of chromosome-specific cfDNA Qn (cfDNA)
Consumer Name Alpha Get Info
Fetal Chromosome X and Y Aneuploidy Risk

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.44
Last Updated
Version 2.73 (MIN)
Change Reason
The system of 'Ser/Plas.maternal^fetus' was changed to 'Plas.cfDNA' (cfDNA from plasma, which includes both maternal and fetal DNA) to more precisely identify what is being measured.; Added "Fetal" to Component to clarify that the result is about the fetus.
Order vs. Observation
Both
Common Test Rank Get Info
8586

Member of these Panels

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

Language Variants Get Info

Tag Language Translation
el-GR Greek (Greece) Κίνδυνος εμβρυικής ανευπλοειδίας χρωμοσωμάτων X & Y:Πιθανότητα:Pt:Πλάσμα.cfDNA:Qn:Δοσολογία ειδικού χρωμοσωμικού cf DNA
Synonyms: Ανευπλοειδία χρωμοσωμάτων X & Y Εμβρυική ανευπλοειδία χρωμοσωμάτων X & Y Κίνδυνος εμβρυικής ανευπλοειδίας χρωμοσωμάτων X & Y Πιθανότητα Χρωμόσωμα
es-ES Spanish (Spain) Riesgo de aneuploidía X e Y:Probabilidad:Punto temporal:ADN en plasma libre de células:Qn:Dosificación de ADN ccf de cromosoma específico
Synonyms: Cuantitativo
es-MX Spanish (Mexico) Riesgo de aneuploidía fetal de los cromosomas X e Y:Probabilidad:Punto temporal:ADN libre de células plasmáticas:Cuantitativo:Dosis de cfDNA cromosómico específico
fr-FR French (France) Risque d'aneuploïdie foetale chromosome X et Y:Probabilité:Ponctuel:Plasma avec ADN libre circulant:Numérique:Dosage d'ADN libre circulant spécifiques aux chromosomes
it-IT Italian (Italy) Cromosomi X & Y, aneuploidia, rischio:Probabilità:Pt:Plasma.DNA libero circolante:Qn:Dosaggio di DNA libero fetale circolante cromosoma specifico
Synonyms: Aneuploidia dei cromosomi X e Y DNA libero circolante nel plasma Dosaggio di DNA libero fetale circolante cromosoma Patologia molecolare Plasma Punto nel tempo (episodio) Rischio di aneuploidia dei cromosomi X e Y
pl-PL Polish (Poland) Ryzyko aneuploidii chromosomów X & Y u płodu:prawdopodobieństwo:punkt w czasie:pozakomórkowy DNA w osoczu:ilościowy:dawkowanie swoistego dla chromosomu pozakomórkowego DNA
Synonyms: Aneuploidia chromosomów X i Y Aneuploidia chromosomów X i Y płodu Ryzyko aneuploidii chromosomów X i Y u płodu
pt-BR Portuguese (Brazil) X & Y aneuploide risco:Achado:Pt:Soro/Plas maternal^feto:Qn:Dosagem de cromossomo específico ccf DNA
zh-CN Chinese (China) 胎儿染色体 X 与 Y 非整倍体性风险:似然性:时间点:血浆.cfDNA:定量型:染色体特异性 cfDNA 剂量测定
Synonyms: 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 X 与 Y 非整倍体性(非整倍体型、非整倍体、异倍体、非整倍性、异倍性、非整倍态、异倍体性);X 与 Y 染色体非整倍体性 染色体二体型+染色体三体型 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 胎儿染色体 X & Y 非整倍体性(非整倍体型、非整倍体、异倍体、非整倍性、异倍性、非整倍态、异倍体性) 胎儿染色体 X 与 Y 非整倍体性(非整倍体型、非整倍体、异倍体、非整倍性、异倍性、非整倍态、异倍体性)风险(危险、风险率、风险性、危险率、危险性);X 与 Y 染色体非整倍体性 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

Unit Source
{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=73821-1