Version 2.78

Term Description

This panel includes quantitative and qualitative risk terms for aneuploidies, including trisomy 13, 18 and 21, monosomy X, and triploidy, as well as the 22q11.2 microdeletion. 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 aneuploidy + 22q11.2 deletion 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

Panel Hierarchy

Details for each LOINC in Panel LHC-Forms

LOINC Name R/O/C Cardinality Example UCUM Units
96978-2 Noninvasive prenatal fetal aneuploidy and 22q11.2 deletion panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
Indent43993-5 Age at delivery R a
Indent18185-9 Gestational age R wk
Indent75607-2 Paternal sample received Qualitative R
Indent96983-2 Twin pregnancy
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 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 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 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 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 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 Comment on fetal 22q11.2 deletion risk [Text] in Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Narrative C
Indent96981-6 Trisomy 13, trisomy 18 or triploidy risk [Likelihood] in Plasma cell-free+WBC DNA by calculation {risk}
Indent96979-0 Trisomy 13, trisomy 18 or triploidy risk [Interpretation] in Plasma cell-free+WBC DNA Qualitative by calculation
Indent75544-7 Noninvasive prenatal testing overall interpretation Qualitative R
Indent75545-4 Noninvasive prenatal testing comment [Text] C
Indent75608-0 Citation [Bibliographic Citation] in Referral lab test Narrative O
Indent68989-3 Performing laboratory [Address] R
Indent75549-6 Performing laboratory phone number R
Indent96982-4 Referral lab test result delivery method

Fully-Specified Name

Component
Noninvasive prenatal fetal aneuploidy & 22q11.2 deletion panel
Property
-
Time
Pt
System
WBC.DNA+Plas.cfDNA
Scale
-
Method
Dosage of chromosome specific cf DNA

Additional Names

Short Name
NIP aneu + 22q11.2 Pnl WBC.DNA+cfDNA
Display Name
Noninvasive prenatal fetal aneuploidy and 22q11.2 deletion panel Dosage of chromosome-specific cfDNA (Plasma cell-free+WBC DNA)
Consumer Name Alpha Get Info
Fetal Noninvasive prenatal fetal aneuploidy and 22q11.2 deletion panel

Basic Attributes

Class
PANEL.MOLPATH
Type
Laboratory
First Released
Version 2.70
Last Updated
Version 2.70
Order vs. Observation
Order
Panel Type
Panel

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Panel de aneuploidía fetal prenatal no invasiva y deleción 22q11.2:Propiedades mixtas (sólo paneles):Punto temporal:ADN en plasma libre de células y leucocitos:-:Dosificación de ADN ccf de cromosoma específico
es-MX Spanish (Mexico) Panel de aneuploidía fetal prenatal no invasiva y deleción 22q11.2:-:Punto temporal:WBC.DNA + Plas.cfDNA:-:Dosificación de ADN cf cromosómico específico
fr-FR French (France) Aneuploïdie foetale prénatale non invasive et délétion 22q11.2 panel:-:Ponctuel:Leucocytes ADN+Plasma avec ADN libre circulant:-:Dosage d'ADN libre circulant spécifiques aux chromosomes
it-IT Italian (Italy) Aneuploidia fetale & delezione 22q11.2, panel prenatale non invasivo:-:Pt:WBC.DNA+Plas.cfDNA:-:Dosaggio di DNA libero fetale circolante cromosoma specifico
Synonyms: DNA libero circolante nel plasma Dosaggio di DNA libero fetale circolante cromosoma Globuli bianchi Globuli bianchi+DNA libero circolante nel plasma Panel prenatale non invasivo per Aneuploidia fetale e delezione 22q11.2 Patologia molecolare Plasma Punto nel tempo (episodio) Set di prescrizione patologia molecolare
zh-CN Chinese (China) 无创性产前胎儿非整倍体性与 22q11.2 染色体区缺失组套:-:时间点:白细胞.DNA+血浆.cfDNA:-:染色体特异性 cfDNA 剂量测定
Synonyms: WBC.DNA+血浆.cfDNA;白细胞.DNA 与血浆.cfDNA;白细胞.DNA+血浆循环 cfDNA;白细胞.DNA+血浆循环 DNA;白细胞.DNA+循环游离核酸;白细胞.DNA+血浆游离 DNA;白细胞.DNA+血浆无细胞 DNA WBC;WBCs;白血球;白血细胞 分子病理学;分子病理学试验 医嘱套餐 医嘱套餐类 医嘱套餐组 医嘱组 医嘱组.分子病理学;分子病理学组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;分子病理学医嘱组类;医嘱组类.分子病理学;实验室医嘱组类.分子病理学 医嘱组合 医嘱组合类 医嘱组套 医嘱组套类 医嘱组类 多重;多重型;多重标尺类型;多重精度类型 套餐 套餐医嘱 套餐医嘱组 套餐医嘱组类 实验室医嘱套餐 实验室医嘱套餐类 实验室医嘱组 实验室医嘱组合类 实验室医嘱组套 实验室医嘱组套类 实验室套餐医嘱组 实验室套餐医嘱组类 实验室检验项目医嘱组合类 实验室检验项目组合类 无创性（无创型、无创、非侵入性）产前胎儿非整倍体性（非整倍体型、非整倍体、异倍体、非整倍性、异倍性、非整倍态、异倍体性）与 22q11.2 染色体区（染色体区带、染色体区域、染色体）缺失（删除、丢失）组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目 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 检验医嘱组合类 检验项目医嘱组合类 检验项目组合类 特异 特异性的 特异的 组 组合 组合医嘱 组合类 组套 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

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=96978-2
Questionnaire definition
https://fhir.loinc.org/Questionnaire/?url=http://loinc.org/q/96978-2