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.

Panel Hierarchy

Details for each LOINC in Panel LHC-Forms

LOINCNameR/O/CCardinalityExample UCUM Units
75547-0Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
Indent43993-5Age at deliveryRa
Indent18185-9Gestational ageRwk
Indent75607-2Paternal sample received QualitativeR
Indent75605-6Cell-free DNA.fetal/Cell-free DNA.total in Plasma cell-free DNA by Dosage of chromosome-specific cfDNAR%
Indent75606-4Cell-free DNA.fetal/Cell-free DNA.total in Plasma cell-free DNA by Dosage of chromosome-specific cfDNA NarrativeO
Indent75604-9Fetal sex in Cell-free+Maternal WBC DNA by Dosage of chromosome specific circulating cell free (ccf) DNAC
Indent75560-3Fetal Trisomy 21 prior risk [Likelihood] Based on maternal ageR{risk}
Indent75562-9Fetal Trisomy 21 prior risk [Likelihood] Based on maternal age NarrativeO
Indent75561-1Fetal Trisomy 21 risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNAR{risk}
Indent75563-7Fetal Trisomy 21 risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA NarrativeO
Indent75564-5Fetal Trisomy 21 risk [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA QualitativeR
Indent75565-2Comment on fetal Trisomy 21 risk [Text] in Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA NarrativeC
Indent75554-6Fetal Trisomy 18 prior risk [Likelihood] Based on maternal ageR{risk}
Indent75556-1Fetal Trisomy 18 prior risk [Likelihood] Based on maternal age NarrativeO
Indent75555-3Fetal Trisomy 18 risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNAR{risk}
Indent75557-9Fetal Trisomy 18 risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA NarrativeO
Indent75558-7Fetal Trisomy 18 risk [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA QualitativeR
Indent75559-5Comment on fetal Trisomy 18 risk [Text] in Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA NarrativeC
Indent75546-2Fetal Trisomy 13 prior risk [Likelihood] Based on maternal ageR{risk}
Indent75550-4Fetal Trisomy 13 prior risk [Likelihood] Based on maternal age NarrativeO
Indent75548-8Fetal Trisomy 13 risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNAR{risk}
Indent75551-2Fetal Trisomy 13 risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA NarrativeO
Indent75552-0Fetal Trisomy 13 risk [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA QualitativeR
Indent75553-8Comment on fetal Trisomy 13 risk [Text] in Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA NarrativeC
Indent75566-0Fetal Monosomy X prior risk [Likelihood] Based on maternal ageR{risk}
Indent75568-6Fetal Monosomy X prior risk [Likelihood] Based on maternal age NarrativeO
Indent75567-8Fetal Monosomy X risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNAR{risk}
Indent75569-4Fetal Monosomy X risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA NarrativeO
Indent75570-2Fetal Monosomy X risk [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA QualitativeR
Indent75571-0Comment on fetal Monosomy X risk [Text] in Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA NarrativeC
Indent75572-8Fetal Triploidy risk [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA QualitativeR
Indent75573-6Comment on fetal Triploidy risk [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA NarrativeC
Indent75574-4Fetal 22q11.2 deletion prior risk [Likelihood] based on general population riskC{risk}
Indent75575-1Fetal 22q11.2 deletion prior risk [Likelihood] based on general population risk NarrativeO
Indent75576-9Fetal 22q11.2 deletion risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNAC{risk}
Indent75577-7Fetal 22q11.2 deletion risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA NarrativeO
Indent75578-5Fetal 22q11.2 deletion risk [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA QualitativeC
Indent75579-3Comment on fetal 22q11.2 deletion risk [Text] in Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA NarrativeC
Indent75598-3Fetal 1p36 deletion prior risk [Likelihood] based on general population riskC{risk}
Indent75599-1Fetal 1p36 deletion prior risk [Likelihood] based on general population risk NarrativeO
Indent75600-7Fetal 1p36 deletion risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNAC{risk}
Indent75601-5Fetal 1p36 deletion risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA NarrativeO
Indent75602-3Fetal 1p36 deletion risk [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA QualitativeC
Indent75603-1Comment on fetal 1p36 deletion risk [Text] in Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA NarrativeC
Indent75586-8Fetal Angelman syndrome prior risk [Likelihood] based on general population riskC{risk}
Indent75587-6Fetal Angelman syndrome prior risk [Likelihood] based on general population risk NarrativeO
Indent75588-4Fetal Angelman syndrome risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNAC{risk}
Indent75589-2Fetal Angelman syndrome risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA NarrativeO
Indent75590-0Fetal Angelman syndrome risk [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA QualitativeC
Indent75591-8Comment on fetal Angelman syndrome risk [Text] in Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA NarrativeC
Indent75592-6Fetal 5p deletion prior risk [Likelihood] based on general population riskC{risk}
Indent75593-4Fetal 5p deletion prior risk [Likelihood] based on general population risk NarrativeO
Indent75594-2Fetal 5p deletion risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNAC{risk}
Indent75595-9Fetal 5p deletion risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA NarrativeO
Indent75596-7Fetal 5p deletion risk [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA QualitativeC
Indent75597-5Comment on fetal 5p deletion risk [Text] in Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA NarrativeC
Indent75580-1Fetal Prader-Willi syndrome prior risk [Likelihood] based on general population riskC{risk}
Indent75581-9Fetal Prader-Willi syndrome prior risk [Likelihood] based on general population risk NarrativeO
Indent75582-7Fetal Prader-Willi syndrome risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNAC{risk}
Indent75583-5Fetal Prader-Willi syndrome risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA NarrativeO
Indent75584-3Fetal Prader-Willi syndrome risk [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA QualitativeC
Indent75585-0Comment on fetal Prader-Willi syndrome risk [Text] in Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA NarrativeC
Indent75544-7Noninvasive prenatal testing overall interpretation QualitativeR
Indent75545-4Noninvasive prenatal testing comment [Text]C
Indent75608-0Citation [Bibliographic Citation] in Referral lab test NarrativeO
Indent68989-3Performing laboratory [Address]R
Indent75549-6Performing laboratory phone numberR

LOINC Names Get Info

Fully-Specified Name
Noninvasive prenatal fetal aneuploidy and microdeletion panel:-:Pt:WBC.DNA+Plas.cfDNA:-:Dosage of chromosome specific cf DNA
Long Common Name
Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA
Short Name
NIP aneu microdel pnl WBC.DNA+cfDNA
Display Name
Noninvasive prenatal fetal aneuploidy and microdel panel Dosage of chromosome-specific cfDNA (Plasma cell-free+WBC DNA)
Consumer Name Alpha Get Info
Fetal Noninvasive prenatal fetal aneuploidy and Microdel panel

Part Model Get Info

  • Component
    Noninvasive prenatal fetal aneuploidy and microdeletion panel
    LP185919-0
    • Analyte
      Noninvasive prenatal fetal aneuploidy and microdeletion panel
      LP185919-0
      • Component Numerator
        Noninvasive prenatal fetal aneuploidy and microdeletion panel
        LP185919-0
        • Component Numerator Core
          Noninvasive prenatal fetal aneuploidy and microdeletion panel
          LP185919-0
        • Component Numerator Core Suffix
          NULL
           
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    -
    LP6769-6
  • Time
    Pt
    LP6960-1
  • System
    WBC.DNA+Plas.cfDNA
    LP185797-0
    • System Core
      WBC.DNA+Plas.cfDNA
      LP185797-0
    • Super System
      NULL
       
  • Scale
    -
    LP7747-1
  • Method
    Dosage of chromosome specific cf DNA
    LP172871-8

Basic Attributes

Class
PANEL.MOLPATH
Type
Laboratory
First Released
Version 2.50
Last Updated
Version 2.73 (MIN)
Order vs. Observation
Order
Panel Type
Panel

Language Variants Get Info

TagLanguageTranslation
ar-JOArabic (Jordan)فحص ما قبل الولادة غير الجراحي للكشف عن اختلالات الصيغة الصبغية الجنينية والحذف الصغير، بالإعتماد على الحمض النووي الخالي من الخلايا وكريات الدم البيضاء في البلازما، بقياس جرعة الحمض النووي الخالي من الخلايا المنتشر في الدورة الدموية والمحدد للكروموسومات
cs-CZCzech (Czechia)Fetální aneuploidie a mikrodelece neinvazivní prenatální panel:-:Časový bod:DNA volná cirkulující (cfDNA) a DNA leukocytů (WBC DNA):-:Dávkování chromozomálně specifické cfDNA
el-GRGreek (Greece)Πίνακας μη επεμβατικής προγεννητικής εμβρυϊκής ανευπλοειδίας και μικροδιαγραφής:-:Pt:Αριθμός λευκών αιμοσφαιρίων.DNA+Πλάσμα.cfDNA:-:Δοσολογία ειδικού χρωμοσωμικού cf DNA
Synonyms: - MOLPATH PANEL.MOLPATH Pt Αριθμός λευκών αιμοσφαιρίων Αριθμός λευκών αιμοσφαιρίων.DNA+Πλάσμα.cfDNA Δοσολογία ειδικού χρωμοσωμικού cf DNA Πίνακας μη επεμβατικής προγεννητικής εμβρυϊκής ανευπλοειδίας και μικροδιαγραφής Πλάσμα Πλάσμα.cfDNA
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
es-MXSpanish (Mexico)Panel de microdeleción y aneuploidía fetal prenatal no invasiva:-:Punto temporal:Libre de células plasmáticas + ADN de leucocitos:-:Dosis de cfDNA cromosómico específico
fr-FRFrench (France)Aneuploïdie et microdélétion foetale prénatale non invasive panel:-:Ponctuel:Leucocytes ADN+Plasma avec ADN libre circulant:-:Dosage d'ADN libre circulant spécifiques aux chromosomes
it-ITItalian (Italy)Microdelezione e aneuploidia fetale prenatale non invasiva, panel:-: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 microdelezione e aneuploidia fetale prenatale non invasiva Patologia molecolare Plasma Punto nel tempo (episodio) Set di prescrizione patologia molecolare
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
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)与染色体微缺失(微缺失、微细缺失、微缺、微缺损、微删除、微丢失)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=75547-0
Questionnaire definition
https://fhir.loinc.org/Questionnaire/?url=http://loinc.org/q/75547-0