LOINC
Version 2.66

75547-0Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNAActive

Component
Noninvasive prenatal fetal aneuploidy and microdeletion panel
Property
-
Time
Pt
System
WBC.DNA+Plas.cfDNA
Scale
-
Method
Dosage of chromosome specific cf DNA

Panel Hierarchy
Details for each LOINC in Panel LHC-Forms

LOINC Name R/O/C Cardinality Example UCUM Units
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
Indent43993-5 Age at delivery R a
Indent18185-9 Gestational age R wk
Indent75607-2 Paternal sample received Qualitative R
Indent75605-6 Cell-free DNA.fetal/Cell-free DNA.total in Plasma cell-free DNA by Dosage of chromosome-specific cfDNA R %
Indent75606-4 Cell-free DNA.fetal/Cell-free DNA.total in Plasma cell-free DNA by Dosage of chromosome-specific cfDNA Narrative O
Indent75604-9 Fetal sex in Cell-free+Maternal WBC DNA by Dosage of chromosome specific circulating cell free (ccf) DNA C
Indent75560-3 Fetal Trisomy 21 prior risk [Likelihood] Based on maternal age R {risk}
Indent75562-9 Fetal Trisomy 21 prior risk [Likelihood] Based on maternal age Narrative O
Indent75561-1 Fetal Trisomy 21 risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA R {risk}
Indent75563-7 Fetal Trisomy 21 risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative O
Indent75564-5 Fetal Trisomy 21 risk [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Qualitative R
Indent75565-2 Genetic counselor comment on fetal Trisomy 21 risk [Text] in Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative C
Indent75554-6 Fetal Trisomy 18 prior risk [Likelihood] Based on maternal age R {risk}
Indent75556-1 Fetal Trisomy 18 prior risk [Likelihood] Based on maternal age Narrative O
Indent75555-3 Fetal Trisomy 18 risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA R {risk}
Indent75557-9 Fetal Trisomy 18 risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative O
Indent75558-7 Fetal Trisomy 18 risk [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Qualitative R
Indent75559-5 Genetic counselor comment on fetal Trisomy 18 risk [Text] in Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative C
Indent75546-2 Fetal Trisomy 13 prior risk [Likelihood] Based on maternal age R {risk}
Indent75550-4 Fetal Trisomy 13 prior risk [Likelihood] Based on maternal age Narrative O
Indent75548-8 Fetal Trisomy 13 risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA R {risk}
Indent75551-2 Fetal Trisomy 13 risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative O
Indent75552-0 Fetal Trisomy 13 risk [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Qualitative R
Indent75553-8 Genetic counselor comment on fetal Trisomy 13 risk [Text] in Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative C
Indent75566-0 Fetal Monosomy X prior risk [Likelihood] Based on maternal age R {risk}
Indent75568-6 Fetal Monosomy X prior risk [Likelihood] Based on maternal age Narrative O
Indent75567-8 Fetal Monosomy X risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA R {risk}
Indent75569-4 Fetal Monosomy X risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative O
Indent75570-2 Fetal Monosomy X risk [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Qualitative R
Indent75571-0 Genetic counselor comment on fetal Monosomy X risk [Text] in Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative C
Indent75572-8 Fetal Triploidy risk [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Qualitative R
Indent75573-6 Fetal Genetic counselor comment on fetal Triploidy risk [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative C
Indent75574-4 Fetal 22q11.2 deletion prior risk [Likelihood] based on general population risk C {risk}
Indent75575-1 Fetal 22q11.2 deletion prior risk [Likelihood] based on general population risk Narrative O
Indent75576-9 Fetal 22q11.2 deletion risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA C {risk}
Indent75577-7 Fetal 22q11.2 deletion risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative O
Indent75578-5 Fetal 22q11.2 deletion risk [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Qualitative C
Indent75579-3 Genetic counselor comment on fetal 22q11.2 deletion risk [Text] in Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative C
Indent75598-3 Fetal 1p36 deletion prior risk [Likelihood] based on general population risk C {risk}
Indent75599-1 Fetal 1p36 deletion prior risk [Likelihood] based on general population risk Narrative O
Indent75600-7 Fetal 1p36 deletion risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA C {risk}
Indent75601-5 Fetal 1p36 deletion risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative O
Indent75602-3 Fetal 1p36 deletion risk [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Qualitative C
Indent75603-1 Genetic counselor comment on fetal 1p36 deletion risk [Text] in Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative C
Indent75586-8 Fetal Angelman syndrome prior risk [Likelihood] based on general population risk C {risk}
Indent75587-6 Fetal Angelman syndrome prior risk [Likelihood] based on general population risk Narrative O
Indent75588-4 Fetal Angelman syndrome risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA C {risk}
Indent75589-2 Fetal Angelman syndrome risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative O
Indent75590-0 Fetal Angelman syndrome risk [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Qualitative C
Indent75591-8 Genetic counselor comment on fetal Angelman syndrome risk [Text] in Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative C
Indent75592-6 Fetal 5p deletion prior risk [Likelihood] based on general population risk C {risk}
Indent75593-4 Fetal 5p deletion prior risk [Likelihood] based on general population risk Narrative O
Indent75594-2 Fetal 5p deletion risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA C {risk}
Indent75595-9 Fetal 5p deletion risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative O
Indent75596-7 Fetal 5p deletion risk [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Qualitative C
Indent75597-5 Genetic counselor comment on fetal 5p deletion risk [Text] in Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative C
Indent75580-1 Fetal Prader-Willi syndrome prior risk [Likelihood] based on general population risk C {risk}
Indent75581-9 Fetal Prader-Willi syndrome prior risk [Likelihood] based on general population risk Narrative O
Indent75582-7 Fetal Prader-Willi syndrome risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA C {risk}
Indent75583-5 Fetal Prader-Willi syndrome risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative O
Indent75584-3 Fetal Prader-Willi syndrome risk [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Qualitative C
Indent75585-0 Genetic counselor comment on fetal Prader-Willi syndrome risk [Text] in Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative C
Indent75544-7 Noninvasive prenatal fetal aneuploidy and microdeletion overall interpretation based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA R
Indent75545-4 Genetic counselor comment on overall fetal aneuploidy and microdeletion risk [Text] based on Plasma cell-free+WBC DNA C
Indent75608-0 Citation [Bibliographic Citation] in Reference lab test Narrative O
Indent68989-3 Performing laboratory [Address] R
Indent75549-6 Performing laboratory phone number R

Additional Names

Short Name
NIP aneu microdel pnl WBC.DNA+cfDNA
Display Name Beta
Noninvasive prenatal fetal aneuploidy and microdel panel Dosage of chromosome-specific cfDNA (Plasma cell-free+WBC DNA)
Consumer Name Alpha
Fetal Noninvasive Prenatal Fetal Aneuploidy and Microdel Panel

Term Description

Noninvasive prenatal screening is used to assess fetal risk for various genetic conditions without requiring invasive maternal procedures such as amniocentesis or chorionic villus sampling. Cell-free DNA (cfDNA) in maternal plasma comes from both fetal and maternal sources, and depending on the technology used, this DNA can be used to determine fetal risk for a variety of conditions including aneuploidy (e.g., Trisomy 21, Monosomy X) and microdeletions (e.g., 22q11.2 deletion). This panel was developed for, but is not limited in use to, Natera's Panorama prenatal test, which incorporates SNP analysis of maternal white blood cell DNA with combined maternal and fetal cfDNA SNP analysis. Natera's proprietary informatics analysis method (NATUS) effectively subtracts the maternal genotype from the cfDNA genotype and analyzes the remaining fetal cfDNA genotype for certain aneuploidies and microdeletion syndromes.
Source: Regenstrief LOINC

Basic Attributes

Class
PANEL.MOLPATH
Type
Laboratory
First Released
Version 2.50
Last Updated
Version 2.54
Order vs. Observation
Order
Common US Lab Results Rank
3000
Common SI Lab Results Rank
3000
Panel Type
Panel

Language Variants Get Info

zh-CNChinese (China)
无创性产前胎儿非整倍体性与染色体微缺失组套:-:时间点:白细胞.DNA+血浆.cfDNA:-:染色体特异性 cfDNA 剂量测定
fr-FRFrench (France)
Noninvasive prenatal fetal aneuploidy and microdeletion panel:-:Pt:WBC.DNA+Plas.cfDNA:-:Dosage of chromosome specific cf DNA
it-ITItalian (Italy)
Microdelezione e aneuploidia fetale prenatale non invasiva, panel:-:Pt:WBC.DNA+Plas.cfDNA:-:Dosaggio di DNA libero fetale circolante cromosoma specifico
es-ESSpanish (Spain)
Panel prenatal no invasivo de aneuploidía y microdeleción fetal:Propiedades mixtas (sólo paneles):Punto temporal:ADN en plasma libre de células y leucocitos:-:Dosificación de ADN ccf de cromosoma específico

LOINC FHIR® API Example - CodeSystem Request Get Info

https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=75547-0