Version 2.80

Term Description

The probability risk for trisomy 13 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 sex chromosome aneuploidy as well as trisomy 13, 18 and 21 in women with singleton pregnancies of at least 10 weeks gestational age.

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
Likelihood
Time
Pt
System
Plas.cfDNA
Scale
Qn
Method
Dosage of chromosome specific cf DNA

Additional Names

Long Common Name
Fetal Trisomy 13 risk [Likelihood] based on Plasma cell-free DNA by Dosage of chromosome-specific cfDNA
Short Name
Fet Ts 13 risk Plas.cfDNA Qn
Display Name
Trisomy 13 risk Dosage of chromosome-specific cfDNA Qn (cfDNA)
Consumer Name Alpha Get Info
Fetal Trisomy 13 risk

Basic Attributes

Class
MOLPATH.TRISOMY
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
9445

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 εμβρυϊκής τρισωμίας 13:Πιθανότητα:Pt:Πλάσμα.cfDNA:Qn:Δοσολογία ειδικού χρωμοσωμικού cf DNA
Synonyms: Κίνδυνος εμβρυϊκής τρισωμίας 13 Πιθανότητα
es-ES Spanish (Spain) Riesgo de trisomía 13: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 trisomía 13 fetal:Probabilidad:Punto temporal:ADN libre de células plasmáticas:Cuantitativo:Dosis de cfDNA cromosómico específico
fr-FR French (France) Risque de trisomie 13 foetale:Probabilité:Ponctuel:Plasma avec ADN libre circulant:Numérique:Dosage d'ADN libre circulant spécifiques aux chromosomes
it-IT Italian (Italy) Trisomia 13, rischio:Probabilità:Pt:Plasma.DNA libero circolante:Qn:Dosaggio di DNA libero fetale circolante cromosoma specifico
Synonyms: DNA libero circolante nel plasma Dosaggio di DNA libero fetale circolante cromosoma 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:Qn:Dosagem de cromossomo específico ccf DNA
zh-CN Chinese (China) 胎儿三体型 13 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: 三体型 三体细胞 三染色体性 三染色体细胞 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） 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 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

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=73969-8