Version 2.78

Descriptions

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

The genetic counselor's comment regarding risk of a specific disorder or group of disorders is used to convey follow-up recommendations or other information related to the risk result and interpretation. Source: Regenstrief LOINC

Basic Part Properties

Part Display Name
Comment on fetal Trisomy 13 risk
Part Type
Component (Describes the core component or analyte measured)
Created On
2014-08-19
Construct for LOINC Short Name
Fet Ts 13 risk comment

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP185802-8

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) 关于胎儿三体型 13 风险的遗传咨询师意见
Synonyms: 关于胎儿三体型 13 （13 三体型综合征、13 三体型、13 三体性综合征、13 三体性、13 三体综合征、13 号染色体三体型、13 号染色体三体性、T13 、Ts 13 、三体性 13 、染色体 13 三体型、染色体 13 三体性、13-三体综合征、13 号染色体三体型综合征、Patau 综合征、帕套综合征）风险（危险性、风险性、危险）的遗传咨询师（遗传病辅导员、基因咨询师、遗传谘询师、基因谘询师）意见（评论、解释、注释、注解、点评）
es-ES Spanish (Spain) Comentario de consejo genético en riesgo de Trisomía 13
it-IT Italian (Italy) Commento su rischio Trisomia 13
tr-TR Turkish (Turkey) Trisomy 13 riski genetik önerisi