Version 2.77

Descriptions

Trisomy 21 risk refers to the fetus's risk of having trisomy 21. The risk can be estimated based on maternal age, prenatal genetic testing of fetal DNA, various maternal lab tests, and fetal nuchal translucency or nuchal fold measurements. Trisomy 21, also called Down syndrome, is caused by the presence of three copies of either the entire chromosome 21 or a crucial region of chromosome 21 in each cell rather than two. Down syndrome is associated with cognitive delay, various forms of congenital heart disease, hearing loss, and leukemia, and characteristic physical features. The risk for Down syndrome increases with increasing maternal age. The general population risk of Down syndrome is 1 out of 650 to 1,000 live births; for a 30-year-old woman, the risk is 1 out of 1,000, while for a 40-year-old woman it nears 1 out of 100. [OMIM: 190685] Source: Regenstrief LOINC, OMIM: 190685

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 21 risk
Part Type
Component (Describes the core component or analyte measured)
Created On
2014-09-26
Construct for LOINC Short Name
Fet Ts 21 risk comment

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP185987-7

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) 关于胎儿三体型 21 风险的遗传咨询师意见
Synonyms: 关于胎儿三体型 21 （21 三体型综合征、21 三体型、21 三体性综合征、21 三体性、21 三体综合征、21 三体综合症、21 号染色体三体型、21 号染色体三体性、Down 氏综合征、Down 综合征、DS;T21 、Ts 21 、三体性 21 、唐氏综合征、染色体 21 三体型、染色体 21 三体性）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 21
it-IT Italian (Italy) Commento su rischio Trisomia 21
tr-TR Turkish (Turkey) Trizomi 21 riski genetik danışman önerisi
pl-PL Polish (Poland) Komentarz dotyczący ryzyka trisomii 21 u płodu