LP185770-7
Fetal Prader-Willi syndrome risk
Active
Description
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
Basic Part Properties
- Part Display Name
- Fetal Prader-Willi syndrome risk
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2014-08-15
- Construct for LOINC Short Name
- PWS risk
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | 胎儿普拉德-威利综合征风险 Synonyms: 胎儿 Prader-Willi 综合征风险（危险性、 |
| es-ES | Spanish (Spain) | Riesgo de síndrome de Prader-Willi |
| it-IT | Italian (Italy) | Sindrome di Prader Willi, rischio Synonyms: Rischio di sindrome di Prader Willi |
| tr-TR | Turkish (Turkey) | Prader-Willi sendrom riski |
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