75584-3
Fetal Prader-Willi syndrome 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
LP185770-7 Fetal Prader-Willi syndrome risk
Prader-Willi syndrome (PWS) risk refers to the fetus's risk of being affected by PWS. The risk for the fetus can be derived from the general population risk as well as prenatal genetic testing of fetal DNA. PWS is caused by the functional loss of several genes on chromosome 15. Normally, only the paternal copy of these genes is active due to genomic imprinting, and in PWS, the paternal copy of these genes is missing. The genetic basis for PWS is the inverse of the basis for Angelman syndrome, in which the maternal copy of a specific gene on chromosome 15 is missing. About 70% of PWS cases are due to the deletion of a portion of the paternal chromosome 15, and another 25% are due to the presence of two maternal chromosome 15 copies (called uniparental disomy, meaning two copies from one parent) instead of one maternal and one paternal.
PWS is associated with different characteristics over time. Infants with PWS have poor growth, developmental delay, and weak muscle tone. Children with PWS develop a compulsion to eat, which leads to obesity and type 2 diabetes mellitus. PWS is associated with mild to moderate cognitive delay, behavior problems, characteristic facial features, and delayed puberty. The general population risk of PWS is about 1 in 10,000 - 30,000 live births, and does not change with maternal age. [MedlinePlus Condition: prader-willi-syndrome]
Source: Regenstrief LOINC, GHR: Prader-Willi syndrome
Fully-Specified Name
- Component
- Fetal Prader-Willi syndrome risk
- Property
- Imp
- Time
- Pt
- System
- WBC.DNA+Plas.cfDNA
- Scale
- Ord
- Method
- Dosage of chromosome specific cf DNA
Additional Names
- Short Name
- Fet PWS risk WBC.DNA+cfDNA Ql
- Display Name
- Prader-Willi syndrome risk Dosage of chromosome-specific cfDNA Ql (Plasma cell-free+WBC DNA) [Interp]
- Consumer Name Alpha Get Info
- Fetal Prader-Willi syndrome risk
Example Answer List: LL3000-8
Source: Natera| Answer | 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.DEL
- 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 |
|---|---|
| 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 |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Riesgo de síndrome de Prader-Willi: |
| es-MX | Spanish (Mexico) | Riesgo de síndrome de Prader-Willi fetal: |
| fr-FR | French (France) | Risque foetal du syndrome de Prader-Willi: |
| it-IT | Italian (Italy) | Sindrome di Prader Willi, rischio: Synonyms: Delezione genetica 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 di sindrome di Prader Willi |
| zh-CN | Chinese (China) | 胎儿普拉德-威利综合征风险: 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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