Version 2.78

Term Description

Indicates the presence of trisomy 13 in the fetus based on non-invasive prenatal screening methods using cfDNA from maternal plasma.
Source: Regenstrief LOINC

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
PrThr
Time
Pt
System
Plas.cfDNA
Scale
Ord
Method
Dosage of chromosome specific cf DNA

Additional Names

Short Name
Fet Chr 13 Ts Plas.cfDNA Ql
Display Name
Chr 13 trisomy Dosage of chromosome-specific cfDNA Ql (cfDNA)
Consumer Name Alpha Get Info
Fetal Chromosome 13 trisomy

Example Answer List: LL3140-2

Source: Laboratory Corporation of America
Answer Code Score Answer ID
No aneuploidy detected LA21879-4
Aneuploidy suspected LA21880-2
Aneuploidy detected LA21881-0

Basic Attributes

Class
MOLPATH.TRISOMY
Type
Laboratory
First Released
Version 2.50
Last Updated
Version 2.73
Change Reason
The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.; Added "Fetal" to Component to clarify that the result is about the fetus.
Order vs. Observation
Observation
Common Test Rank Get Info
6160

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Trisomía cromosoma 13:PrThr: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:Presencia o umbral:Punto temporal:ADN libre de células plasmáticas:Ordinal:Dosis de cfDNA cromosómico específico
fr-FR French (France) Chromosome 13 trisomie foetale:Présence/Seuil:Ponctuel:Plasma avec ADN libre circulant:Qualitatif:Dosage d'ADN libre circulant spécifiques aux chromosomes
it-IT Italian (Italy) Cromosoma 13, trisomia:PrThr: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 Patologia molecolare Plasma Presenza o Soglia Punto nel tempo (episodio) Trisomia cromosoma genetica Trisomia del cromosoma 13
pl-PL Polish (Poland) Trisomia chromosomu 13 u płodu:granica wykrywalności:punkt w czasie:pozakomórkowy DNA w osoczu:półilościowy:dawkowanie swoistego dla chromosomu pozakomórkowego DNA
zh-CN Chinese (China) 胎儿染色体 13 三体性:存在情况或阈值: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） 存在情况;存在;存在与否;是否存在;阈值;界值;界限;阀值;临界值;存在情况（存在、存在与否、是否存在）或阈值（界值、界限、阀值、临界值） 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

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