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Centro de Investigaciones Regionales Dr. Hideyo Noguchi, Universidad Autónoma de Yucatán

2005, Number 4

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Rev Biomed 2005; 16 (4)

Biochemical serum markers for Down syndrome screening.

Baluja-Conde IB, Rodríguez-López MR, Zulueta-Rodríguez O, Ruiz-Escandón B, Bermúdez-Velásquez S

Language: Spanish
References: 157
Page: 259-272
PDF size: 74.85 Kb.


ABSTRACT

Down syndrome is caused by an extra chromosome 21 and is the most common autosomal chromosome aberration in which affected individuals survive beyond infancy. Down syndrome results in mental retardation and several congenital malformations.
The overall prevalence of this disease varies from 1:40 to 1:900 births. The risk of carrying a Down syndrome fetus depends on various factors, and it increases almost exponentially with maternal age.
The methods established for detecting the disease are based on testing the fetus, either directly, by invasive techniques, or indirectly, based upon indices of relative fetal development. Maternal serum screening is a non-invasive method. It relies on the measurements and quantification of multiple biochemical markers such as: alpha-fetoprotein (AFP), human chorionic gonadotropin (hCG), free β-hCG, unconjugated estriol, and inhibin-A. These concentrations increase or decrease depending on whether they belong to a fetus with this anomaly or not.
We review the main characteristics of this disease, as well as the methods of detection used, and the biochemical serum markers for Down syndrome screening with a higher reliability and detectability.


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