Version 2.68

75569-4Fetal Monosomy X risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA NarrativeActive

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

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. [GHR: turner-syndrome] Source: Regenstrief LOINC, GHR: Turner syndrome

Fully-Specified Name

Fetal monosomy X risk
Dosage of chromosome specific cf DNA

Additional Names

Short Name
Fet Ms X risk WBC.DNA+cfDNA
Display Name
Monosomy X risk Dosage of chromosome-specific cfDNA Nar (Plasma cell-free+WBC DNA)

Basic Attributes

First Released
Version 2.50
Last Updated
Version 2.66
Change Reason
Added "Fetal" to Component to clarify that the result is about the fetus.
Order vs. Observation
Common US Lab Results Rank
Common SI Lab Results Rank

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

zh-CNChinese (CHINA)
胎儿单体型 X 风险:似然性:时间点:白细胞.DNA+血浆.cfDNA:叙述型:染色体特异性 cfDNA 剂量测定
fr-FRFrench (FRANCE)
Risque monosomie X:Probabilité:Ponctuel:Leucocytes ADN+Plasma avec ADN libre circulant:Résultat textuel:Dosage d'ADN libre circulant spécifiques aux chromosomes
it-ITItalian (ITALY)
Monosomia X, rischio:Probabilità:Pt:WBC.DNA+Plas.cfDNA:Nar:Dosaggio di DNA libero fetale circolante cromosoma specifico
es-ESSpanish (SPAIN)
Riesgo de monosomía X:Probabilidad:Punto temporal:ADN en plasma libre de células y leucocitos:Narrativo:Dosificación de ADN ccf de cromosoma específico

LOINC FHIR® API Example - CodeSystem Request Get Info