75570-2
Fetal Monosomy X 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
LP185775-6 Fetal monosomy X risk
Monosomy X risk refers to the fetus's risk of having monosomy X, also known as Turner syndrome. The risk can be estimated based on gestational age as well as prenatal genetic testing of fetal DNA.Monosomy X is caused by the presence of a single normal copy of chromosome X in each cell rather than 2 normal copies of X or one X and one Y chromosome. In many cases, critical portions of the second X chromosome may be missing rather than the entire chromosome. Turner syndrome is associated with ovarian dysfunction, short stature and other characteristic physical features, and up to half of girls with Turner syndrome have congenital heart disease. Turner syndrome is not associated with cognitive delay. The general population risk of monosomy X is about 1 in 2,500 live female births, and does not change with maternal age. [MedlinePlus Condition: turner-syndrome]
Source: Regenstrief LOINC, GHR: Turner syndrome
Fully-Specified Name
- Component
- Fetal monosomy X risk
- Property
- Imp
- Time
- Pt
- System
- WBC.DNA+Plas.cfDNA
- Scale
- Ord
- Method
- Dosage of chromosome specific cf DNA
Additional Names
- Short Name
- Fet Ms X risk WBC.DNA+cfDNA Ql
- Display Name
- Monosomy X risk Dosage of chromosome-specific cfDNA Ql (Plasma cell-free+WBC DNA) [Interp]
- Consumer Name Alpha Get Info
- Fetal Monosomy X 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
- 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 monosomía X: |
| es-MX | Spanish (Mexico) | Riesgo de monosomía X fetal: |
| fr-FR | French (France) | Risque de monosomie X foetale: |
| it-IT | Italian (Italy) | Monosomia X, 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 di monosomia X |
| zh-CN | Chinese (China) | 胎儿单体型 X 风险: Synonyms: WBC.DNA+血浆.cfDNA; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=75570-2
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