LP19800-9

Chromosome 21 trisomy

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Description

Trisomy 21 risk refers to the fetus's risk of having trisomy 21. The risk can be estimated based on maternal age, prenatal genetic testing of fetal DNA, various maternal lab tests, and fetal nuchal translucency or nuchal fold measurements. Trisomy 21, also called Down syndrome, is caused by the presence of three copies of either the entire chromosome 21 or a crucial region of chromosome 21 in each cell rather than two. Down syndrome is associated with cognitive delay, various forms of congenital heart disease, hearing loss, and leukemia, and characteristic physical features. The risk for Down syndrome increases with increasing maternal age. The general population risk of Down syndrome is 1 out of 650 to 1,000 live births; for a 30-year-old woman, the risk is 1 out of 1,000, while for a 40-year-old woman it nears 1 out of 100. [OMIM: 190685] Source: Regenstrief LOINC, OMIM: 190685

Basic Part Properties

Part Name

Chromosome 21 trisomy

Part Display Name

Chromosome 21 trisomy

Part Type

Component (Describes the core component or analyte measured)

Created On

2000-05-04

Construct for LOINC Short Name

Chr 21 Ts

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