Monday, October 17, 2011

Test diagnoses Down syndrome early in pregnancy

A new test has made diagnosing Down syndrome in the unborn child much easier. Genetic screening assures that mothers-to-be do not need all sorts of unnecessary invasive tests to determine abnormalities that can lead to Down syndrome.  The new method works from about ten weeks of pregnancy, providing answers to mothers early in pregnancy. In addition, the genetic screening scores exceptionally high on reliability, rarely providing an incorrect reading. However, to confirm the outcome, some form of invasive testing is still necessary.

While current testing methods are usually invasive, they are also more unreliable. This new form of prenatal screening makes tests much easier, and will probably result in more future mothers to opt-in for a test. Because most women choose to terminate their pregnancy when screening reveals Down syndrome in the unborn child, easier and more reliable testing holds high relevance.

The Down syndrome is marked by mental retardation, and is caused by having an extra copy of chromosome number 21. Normally, humans posses two copies of each chromosome, but people with Down syndrome have three of them. Mental retardation and specific facial characters are the most well-known symptoms, but in addition, Down patients have a significantly higher chance on heart disease: about 45 of the people with 'trisomy 21' develop problems involving the heart. There are more symptoms associated with Down syndrome, which leads to an average life expectancy of about 49 years.

Developments in genetics have lead to the discovery of many genes that are involved with all sorts of diseases. Consequently, we have been able to develop screenings that reveal whether people are in risk of developing a particular disease. This is especially relevant for pregnant women and their unborn children, as prenatal screening could reveal all sorts of horrible diseases which likely result in a miserable and short life. Because of the burden on the life of the child, and its surroundings, prospect parents could choose to terminate the pregnancy.

No comments:

Post a Comment