Version 2.80

Term Description

The interpretation of chromosome 13 aneuploidy (e.g., consistent with diploid, suspected trisomy or consistent with trisomy 13) based on non-invasive prenatal screening methods using cfDNA in maternal plasma.

Part Description

LP187147-6   Fetal chromosome 13 trisomy
Trisomy 13 risk refers to the fetus's risk of having trisomy 13. The risk can be estimated based on maternal age as well as prenatal genetic testing of fetal DNA. Trisomy 13, also called Patau syndrome, is caused by the presence of three copies of chromosome 13 in each cell rather than two. Patau syndrome is associated with severe cognitive delay, various forms of congenital heart disease, brain or spinal cord abnormalities, hypotonia, cleft lip and/or palate, and poorly developed eyes. Many liveborn infants with Patau syndrome die within the first weeks of life, and less than 10% survive longer than one year. The general population risk of Trisomy 13 is about 1 in 16,000 live births, but the risk increases with increasing maternal age. [MedlinePlus Condition: trisomy-13] Source: Regenstrief LOINC , GHR: Trisomy 13

Fully-Specified Name

Component
Fetal chromosome 13 trisomy
Property
Imp
Time
Pt
System
Plas.cfDNA
Scale
Ord
Method
Dosage of chromosome specific cf DNA

Additional Names

Long Common Name
Fetal Chromosome 13 trisomy [Interpretation] based on Plasma cell-free DNA by Dosage of chromosome-specific cfDNA Qualitative
Short Name
Fet Chr 13 Ts Plas.cfDNA Ql
Display Name
Chr 13 trisomy Dosage of chromosome-specific cfDNA Ql (cfDNA) [Interp]
Consumer Name Alpha Get Info
Fetal Chromosome 13 trisomy

Example Answer List: LL3143-6

Source: Laboratory Corporation of America
Answer Code Score Answer ID
Consistent with diploid chromosome 13 LA21888-5
Borderline result suggestive of trisomy 13 LA21889-3
Consistent with trisomy 13 LA21890-1

Basic Attributes

Class
MOLPATH.TRISOMY
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
Observation
Common Test Rank Get Info
7477

Language Variants Get Info

Tag Language Translation
el-GR Greek (Greece) Εμβρυική τρισωμία χρωμοσώματος 13:Imp:Pt:Πλάσμα.cfDNA:Ord:Δοσολογία ειδικού χρωμοσωμικού cf DNA
Synonyms: Imp Εμβρυική τρισωμία χρωμοσώματος 13 Χρωμόσωμα
es-ES Spanish (Spain) Trisomía cromosoma 13:Impresión/interpretación del estudio:Punto temporal:ADN en plasma libre de células:Ord:Dosificación de ADN ccf de cromosoma específico
es-MX Spanish (Mexico) Trisomía fetal del cromosoma 13:Impresión / interpretación del estudio:Punto temporal:ADN libre de células plasmáticas:Ordinal:Dosis de cfDNA cromosómico específico
fr-FR French (France) Chromosome 13 trisomie foetale:Interprétation:Ponctuel:Plasma avec ADN libre circulant:Qualitatif:Dosage d'ADN libre circulant spécifiques aux chromosomes
it-IT Italian (Italy) Cromosoma 13, trisomia: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) Trisomia cromosoma genetica Trisomia del cromosoma 13
zh-CN Chinese (China) 胎儿染色体 13 三体性:印象:时间点:血浆.cfDNA:序数型:染色体特异性 cfDNA 剂量测定
Synonyms: 三体型 三体细胞 三染色体性 三染色体细胞 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 分子病理学试验类.三体性（三体型） 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13号染色体三体型;13号染色体三体性;染色体 13 三体型 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

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=75979-5