96978-2
Noninvasive prenatal fetal aneuploidy and 22q11.2 deletion panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
Active
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.
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 |
LOINC Names Get Info
- Fully-Specified Name
- Noninvasive prenatal fetal aneuploidy & 22q11.2 deletion panel:
-: Pt: WBC.DNA+Plas.cfDNA: -: Dosage of chromosome specific cf DNA - Long Common Name
- Noninvasive prenatal fetal aneuploidy and 22q11.2 deletion panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
- 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
Part Model Get Info
- Component
- Noninvasive prenatal fetal aneuploidy & 22q11.2 deletion panel
LP422145-5
- Analyte
- Noninvasive prenatal fetal aneuploidy & 22q11.2 deletion panel
LP422145-5
- Component Numerator
- Noninvasive prenatal fetal aneuploidy & 22q11.2 deletion panel
LP422145-5
- Component Numerator Core
- Noninvasive prenatal fetal aneuploidy & 22q11.2 deletion panel
LP422145-5
- 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
- Time Core
- Pt
LP6960-1
- Time Modifier
- NULL
- 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 2.70
- Last Updated
- Version 2.70 (ADD)
- Order vs. Observation
- Order
- Panel Type
- Panel
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| cs-CZ | Czech (Czechia) | Fetální aneuploidie a 22q11.2 delece neinvazivní prenatální panel: |
| el-GR | Greek (Greece) | Πίνακας διαγραφής μη επεμβατικής προγεννητικής εμβρυϊκής ανευπλοειδίας & 22q11.2: Synonyms: - MOLPATH PANEL.MOLPATH Pt Αριθμός λευκών αιμοσφαιρίων Αριθμός λευκών αιμοσφαιρίων.DNA+Πλάσμα.cfDNA Δοσολογία ειδικού χρωμοσωμικού cf DNA Πίνακας διαγραφής μη επεμβατικής προγεννητικής εμβρυϊκής ανευπλοειδίας & |
| es-ES | Spanish (Spain) | Panel de aneuploidía fetal prenatal no invasiva y deleción 22q11.2: |
| es-MX | Spanish (Mexico) | Panel de aneuploidía fetal prenatal no invasiva y deleción 22q11.2: |
| fr-FR | French (France) | Aneuploïdie foetale prénatale non invasive et délétion 22q11.2 panel: |
| it-IT | Italian (Italy) | Aneuploidia fetale & delezione 22q11.2, panel prenatale non invasivo: 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 |
| pl-PL | Polish (Poland) | Panel nieinwazyjnych badań prenatalnych w kierunku aneuploidii u płodu & delecji 22q11.2: Synonyms: DNA leukocytów i wolnokrążące DNA w osoczu Panel nieinwazyjnych badań prenatalnych w kierunku aneuploidii u płodu i delecji 22q11.2 wolnokrążące DNA w osoczu |
| 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: Synonyms: WBC.DNA+血浆.cfDNA; |
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