75572-8
Fetal Triploidy risk [Interpretation] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA Qualitative
Active
Term Description
This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions.
Source: Regenstrief LOINC
Part Description
LP185909-1 Fetal triploidy risk
Triploidy risk refers to the fetus's risk of being affected by triploid syndrome. The risk can be determined by prenatal genetic testing of fetal DNA. Triploid syndrome is caused by the presence of three copies of every chromosome rather than two, for a total of 69 chromosomes rather than the normal 46. The majority of cases are due to two sperm fertilizing a single egg. Most fetuses with triploidy are lost due to miscarriage, and the few infants born with triploidy have multiple birth defects and only survive a few months. [https://www.rarediseases.org]
Source: Regenstrief LOINC, NORD: Triploid syndrome
Fully-Specified Name
- Component
- Fetal triploidy risk
- Property
- Imp
- Time
- Pt
- System
- WBC.DNA+Plas.cfDNA
- Scale
- Ord
- Method
- Dosage of chromosome specific cf DNA
Additional Names
- Short Name
- Fet Trip risk WBC.DNA+cfDNA Ql
- Display Name
- Triploidy risk Dosage of chromosome-specific cfDNA Ql (Plasma cell-free+WBC DNA) [Interp]
- Consumer Name Alpha Get Info
- Fetal Triploidy risk
Example Answer List: LL3000-8
Source: NateraAnswer | Code | Score | Answer ID |
---|---|---|---|
Low risk | LA19542-2 | ||
High risk | LA19541-4 | ||
Risk unchanged | LA21393-6 | ||
Test not performedCopyright http://snomed.info/sct ID:262008008 Not performed (qualifier value) | LA13546-9 |
Basic Attributes
- Class
- MOLPATH.TRISOMY
- Type
- Laboratory
- First Released
- Version 2.50
- Last Updated
- Version 2.73
- Change Reason
- Added "Fetal" to Component to clarify that the result is about the fetus.
- Order vs. Observation
- Both
Member of these Panels
LOINC | Long Common Name |
---|---|
96978-2 | Noninvasive prenatal fetal aneuploidy and 22q11.2 deletion panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA |
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 |
96977-4 | Noninvasive prenatal fetal aneuploidy panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA |
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-ES | Spanish (Spain) | Riesgo de Triploidía: |
es-MX | Spanish (Mexico) | Riesgo de triploidía fetal: |
fr-FR | French (France) | Risque de triploïdie foetale: |
it-IT | Italian (Italy) | Triploidia, rischio: Synonyms: DNA libero circolante nel plasma Dosaggio di DNA libero fetale circolante cromosoma Globuli bianchi Globuli bianchi+DNA libero circolante nel plasma Impressione/interpretazione di studio Patologia molecolare Plasma Punto nel tempo (episodio) Rischio triploidia Trisomia cromosoma genetica |
zh-CN | Chinese (China) | 胎儿三倍体风险: Synonyms: WBC.DNA+血浆.cfDNA; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
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