Version 2.78

Term Description

Trisomy 13 (T13) ordinal risk (high/low) 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 trisomy 13, 18 and 21 in women with singleton pregnancies of at least 10 weeks gestational age.
Source: Regenstrief LOINC

Part Description

LP99499-3   Fetal trisomy 13 risk
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 trisomy 13 risk
Property
Imp
Time
Pt
System
Plas.cfDNA
Scale
Ord
Method
Dosage of chromosome specific cf DNA

Additional Names

Short Name
Fet Ts 13 risk Plas.cfDNA Ql
Display Name
Trisomy 13 risk Dosage of chromosome-specific cfDNA Ql (cfDNA) [Interp]
Consumer Name Alpha Get Info
Fetal Trisomy 13 risk

Example Answer List: LL2353-2

Source: Regenstrief LOINC
Answer Code Score Answer ID
Low risk LA19542-2
High risk LA19541-4

Basic Attributes

Class
MOLPATH.TRISOMY
Type
Laboratory
First Released
Version 2.44
Last Updated
Version 2.73
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
8224

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
es-ES Spanish (Spain) Riesgo de trisomía 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) Riesgo de trisomía 13 fetal:Impresión / interpretación del estudio:Punto temporal:ADN libre de células plasmáticas:Ordinal:Dosis de cfDNA cromosómico específico
fr-FR French (France) Risque de trisomie 13 foetale:Interprétation:Ponctuel:Plasma avec ADN libre circulant:Qualitatif:Dosage d'ADN libre circulant spécifiques aux chromosomes
it-IT Italian (Italy) Trisomia 13, 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 trisomia 13 Trisomia cromosoma genetica
pt-BR Portuguese (Brazil) Trissomia 13 risco:Achado:Pt:Soro/Plas maternal^feto:Ord:Dosagem de cromossomo específico ccf DNA
uk-UA Ukrainian (Ukraine) Трисомія плода 13 ризик:Інтерпретація:МоментЧасу:Плазма.безклітиннаДНК:Порядково:Дозування хромосом-специфічної безклітинної ДНК
Synonyms: Chromosom; Chromosomes; Genetics; Heredity; Heritable; Impression; Impression/interpretation of study; Impressions; Inherited; Interp; Interpretation; Molecular pathology; MOLPATH; MOLPATH.TRISOMY; Ordinal; Patau syndrome; Pl; Plasma; Plsm; Point in time; QL; Qual; Qualitative; Random; Screen; Spec; Ts; Ts 13 risk
zh-CN Chinese (China) 胎儿三体型 13 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: 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 三体型综合征风险（危险性、风险性、危险）;13 三体型风险;13 三体性综合征风险;13 三体性风险;13 三体综合征风险;13 号染色体三体型风险;13 号染色体三体性风险;T13 风险;Ts 13 风险;三体性 13 风险;染色体 13 三体型风险;染色体 13 三体性风险;13-三体综合征风险;13 号染色体三体型综合征风险;Patau 综合征风险;帕套综合征风险 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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CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=73824-5