Down syndrome is the most common chromosomal error in newborn children. Most of the affected persons demonstrate trisomy of chromosome 21, which cause the loss of chromosome separation during meiosis. The format of the affected person is associated with a number of genes that are involved in the error. Some of the affected people show weak symptoms, and some the complete syndrome.
Symptoms associated with Down syndrome include mental retardation, congenital heart defects, hypotonic muscles (lower muscle tone or inferior muscular activity in the baby), and abnormalities in the immune system, the gastrointestinal malformations and slow physical development. After the age of 35 almost all affected people show brain damage similar to those in patients with Alzheimer’s disease.
The prenatal down syndrome screening of mother’s serum is based on the measurement of multiple biochemical markers (quadruple hormonal test) or (double-hormone test), which is used to calculate the risk factor in relation to the measured parameters and the mother’s age. This way we can identify women at high risk of the birth of a child with Down syndrome, and then confirm the risk using the appropriate more invasive methods. These screening tests do not pose additional risks to the fetus and may be based on automated methods for the determination of the required biochemical parameters. Therefore, it is possible to carry out screening tests on the population of women under the age of 35. The percentage of reliability of the methods that we use in our laboratory is higher than 95%. Combined with a nuchal translucency performed by a gynecologist the percentage of reliability is even higher.
In Medicare PLUS laboratory we perform prenatal down syndrome screening by double hormone screening (fBhcg and PAPP-a) on awarded BRAHMS kryptor compact. Monthly we participate in an independent external control, performed by the Royal institute, UKNEQAS Edinburgh, thus guarantee the reliability of our results.
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