75565-2  Genetic counselor comment on fetal Trisomy 21 risk [Text] in Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA NarrativeGenetic counselor comment on fetal Trisomy 21 risk [Text] in Plasma cell-free+​WBC DNA by Dosage of chromosome-specific cfDNA NarrativeGenetic counselor comment on fetal Trisomy 21 risk: Txt: Pt: WBC.DNA+​Plas.cfDNA: Nar: Dosage of chromosome specific cf DNA  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
Genetic counselor comment on fetal Trisomy 21 risk  Txt  Pt  WBC.DNA+Plas.cfDNA  Nar  Dosage of chromosome specific cf DNA
  Long Common Name:  Genetic counselor comment on fetal Trisomy 21 risk [Text] in Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative
  Short Name:  Gen couns comm Fet Ts 21 risk
  Display Name:  Genetic counselor comment on Trisomy 21 risk Dosage of chromosome-specific cfDNA Nar (Plasma cell-free+WBC DNA)

TERM DEFINITION/DESCRIPTION(S)
  This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions.
 
 

PART DEFINITION/DESCRIPTION(S)
  Part: Genetic counselor comment on fetal Trisomy 21 risk
  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.
 
 
  Part: Genetic counselor comment on fetal Trisomy 21 risk
  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]
 
 

BASIC ATTRIBUTES
  Class/Type: MOLPATH.TRISOMY/Lab
  Common Lab Results Rank: #3000
  Common SI Lab Results Rank: #3000
  First Released in Version: 2.50
  Last Updated in Version: 2.66
  Order vs. Obs.: Both
  Status: Active.
Change Reason: Added "Fetal" to Component to clarify that the result is about the fetus.

MEMBER OF THESE PANELS     
  This section provides information about panels that contain this LOINC code.
  LOINC   Long Common Name  
  75547-0 Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
  

PARTS

Part Type    Part No.  Part Name   
Component   LP185987-7  Genetic counselor comment on fetal Trisomy 21 risk 
Property   LP6885-0  Txt   [Text] 
Time   LP6960-1  Pt   [Point in time (spot)] 
System   LP185797-0  WBC.DNA+Plas.cfDNA   [Plasma cell-free+WBC DNA] 
Scale   LP7749-7  Nar 
Method   LP172871-8  Dosage of chromosome specific cf DNA   [Dosage of chromosome-specific cfDNA] 
Fragments for synonyms   LP20948-3  Chromosome 
Fragments for synonyms   LP28586-3  Specific 
Fragments for synonyms   LP20987-1  Comment 
Fragments for synonyms   LP247965-9  Genetic 
Fragments for synonyms   LP36157-3  Trisomy 
Fragments for synonyms   LP70386-5  Trisomy 21 

LANGUAGE VARIANTS
  Chinese (CHINA)  (From: Regenstrief-generated full translation based on part translation provided by Lin Zhang, A LOINC volunteer from China)
 
  关于三体型 21 风险的遗传咨询师意见:文本型属性:时间点:白细胞.DNA+​血浆.cfDNA:叙述型:染色体特异性 cfDNA 剂量测定关于三体型 21 风险的遗传咨询师意见:文本型属性:时间点:白细胞.DNA+​血浆.cfDNA:叙述型:染色体特异性 cfDNA 剂量测定
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  Genetic counselor comment on Trisomy 21 risk:Txt:Pt:WBC.DNA+​Plas.cfDNA:Nar:Dosage of chromosome specific cf DNAGenetic counselor comment on Trisomy 21 risk:Txt:Pt:WBC.DNA+​Plas.cfDNA:Nar:Dosage of chromosome specific cf DNARisque trisomie 21 commentaire du conseiller génétique [Texte] Leucocytes ADN+​Plasma avec ADN libre circulant ; Résultat textuel ; Dosage d'ADN libre circulant spécifiques aux chromosomes
  Italian (ITALY)  (From: Regenstrief-generated full translation based on part translation provided by Consiglio Nazionale delle Ricerche)
 
  Commento di consulente genetico su rischio Trisomia 21:Txt:Pt:WBC.DNA+​Plas.cfDNA:Nar:Dosaggio di DNA libero fetale circolante cromosoma specificoCommento di consulente genetico su rischio Trisomia 21:Txt:Pt:WBC.DNA+​Plas.cfDNA:Nar:Dosaggio di DNA libero fetale circolante cromosoma specifico
  Spanish (SPAIN)  (From: Regenstrief-generated full translation based on part translation provided by the Clinical Laboratory Committee of SERVICIO EXTREMEÑO DE SALUD, with the support of BITAC MAP.)
 
  Comentario de consejo genético en riesgo de Trisomía 21:Texto:Punto temporal:ADN en plasma libre de células y leucocitos:Narrativo:Dosificación de ADN ccf de cromosoma específicoComentario de consejo genético en riesgo de Trisomía 21:Texto:Punto temporal:ADN en plasma libre de células y leucocitos:Narrativo:Dosificación de ADN ccf de cromosoma específico

RELATED NAMES
  Chromosom Gen couns comm fet Ts 21 risk Random
  Chromosomes Genetics Remarks
  cmmt Genomic Report
  cmnt Leukocytes Spec
  Com Molecular pathology Text
  Comm MOLPATH Ts
  Comments MOLPATH.TRISOMY Ts 21 risk
  Commt Narrative WBC.DNA+cfDNA
  Down syndrome Pl WBCs
  Downs Plasma White blood cells
  Down's syndrome Plsm  
  ds Point in time  

CHANGE HISTORY
  Change Type: NAM

INTERNAL FIELDS
  Detail Page Created On: 6/26/2019 2:43:19 PM
  Long Common Name: Genetic counselor comment on fetal Trisomy 21 risk [Text] in Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative
  Shortname: Gen couns comm Fet Ts 21 risk
  Fully Specified Name: Genetic counselor comment on fetal Trisomy 21 risk: Txt: Pt: WBC.DNA+Plas.cfDNA: Nar: Dosage of chromosome specific cf DNA
     
  Component Word Count: 8
  ID: 77253
  Status (Raw): ACTIVE