75548-8
Fetal Trisomy 13 risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
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. It represents the risk based on a priori risk combined with the Panorama test result.
Source: Regenstrief LOINC
Part Description
LP99499-3 Fetal trisomy 13 risk
Trisomy 13 risk refers to the fetus's risk of having trisomy 13. The risk can be estimated based on maternal age as well as prenatal genetic testing of fetal DNA. Trisomy 13, also called Patau syndrome, is caused by the presence of three copies of chromosome 13 in each cell rather than two. Patau syndrome is associated with severe cognitive delay, various forms of congenital heart disease, brain or spinal cord abnormalities, hypotonia, cleft lip and/or palate, and poorly developed eyes. Many liveborn infants with Patau syndrome die within the first weeks of life, and less than 10% survive longer than one year. The general population risk of Trisomy 13 is about 1 in 16,000 live births, but the risk increases with increasing maternal age. [MedlinePlus Condition: trisomy-13]
Source: Regenstrief LOINC, GHR: Trisomy 13
Fully-Specified Name
- Component
- Fetal trisomy 13 risk
- Property
- Likelihood
- Time
- Pt
- System
- WBC.DNA+Plas.cfDNA
- Scale
- Qn
- Method
- Dosage of chromosome specific cf DNA
Additional Names
- Short Name
- Fet Ts 13 risk WBC.DNA+cfDNA Qn
- Display Name
- Trisomy 13 risk Dosage of chromosome-specific cfDNA Qn (Plasma cell-free+WBC DNA)
- Consumer Name Alpha Get Info
- Fetal Trisomy 13 risk
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 trisomía 13: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Riesgo de trisomía 13 fetal: |
| fr-FR | French (France) | Risque de trisomie 13 foetale: |
| it-IT | Italian (Italy) | Trisomia 13, rischio: Synonyms: DNA libero circolante nel plasma Dosaggio di DNA libero fetale circolante cromosoma Globuli bianchi Globuli bianchi+DNA libero circolante nel plasma Patologia molecolare Plasma Punto nel tempo (episodio) Rischio di trisomia 13 Trisomia cromosoma genetica |
| zh-CN | Chinese (China) | 胎儿三体型 13 风险: Synonyms: WBC.DNA+血浆.cfDNA; |
Example Units
| Unit | Source |
|---|---|
| {risk} | Example UCUM Units |
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