New method to detect Down syndrome and Edwards syndrome in study

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Society & You - Health
Monday, 25 June 2012 17:48

There are often false positives and negatives in screening for Down syndrome and Edwards syndrome . New research at Lucile Packard Children's Hospital at Stanford University, promising. In tell you more of this revolutionary method.

Nuevo método para detectar síndrome de Down y de síndrome de Edwards, en estudio

Detection of Down syndrome and Edwards syndrome

  • The syndrome is caused by trisomy 21. It occurs in one in every 700 born. This syndrome is characteristic physical features, and a variable degree of cognitive impairment. It was named after John Langdon Haydon Down first described the syndrome in 1866.
  • Edwards syndrome trisomy 18, occurs in 1 in 3000 live births. Given the high mortality rate after birth failed to find an effective treatment.
  • Unfortunately 50% of those born with Edwards syndrome usually does not exceed a prenatal complications and die. The other 50% that do survive have serious complications. The risk as in the Dawn increases with increasing age of the mother.
  • Presents facial abnormalities, cardiovascular, gastrointestinal, genitourinary, extremity. It was named after John H. Edwards who studied at the University of Wisconsin and published his results in 1960.

trisomia 21 - Sindrome Down

Sindrome EDWARDS

Looking for other methods of detection of these syndromes

researchers used digital analysis of selected regions. (DANSR). This analysis examines the cell-free fetal cells DNA. The parts of DNA that circulate in the bloodstream of pregnant women.

A difference between this method and existing ones is that it focuses on examining only the chromosomes to be examined, so the process is faster and cheaper than other methods.

The technique is called Fetal-fraction of Trisonomy Optimized Risk Evaluation (FORTE)

What is this new technique?

The technique analyzes the percentages FORTE fetal DNA in the sample and the risks associated with age in order to determine if risk of these trisomies in the baby. This technique was tested on a sample of 4,002 women with a mean age of 34.3 years, from different countries and ethnicities.

Before having any evidence to determine whether there was risk of trisomy. They took blood samples from patients. The results were compared with those offered by conventional detection tests, CVS and amniocentesis.

Nuevo método para detectar síndrome de Down y de síndrome de Edwards, en estudio

We found 81 cases were diagnosed as having high risk of trisomy 21 or Down syndrome . FORTE The method identified 100% of these cases and only one false positive (compared with 2.88 in the rate of false positives that occur with the current tests).

This method gives FORTE a rate of only 0.03% false positives. Of the 38 cases at risk for T18 or Edwards syndrome, 37 were successfully identified and there were 2 false positives. This implies a 97.4% rate of success with a false positive rate of 0.07%.

Mary E. Norton, MD, director of perinatal research at Lucile Packard Children's Hospital at Stanford University, said:

The improvement achieved by the method DANSR provides a more accessible for analysis cfDNA with high performance and potential for use in the clinic. The cell-free DNA provide highly accurate results in a single analysis. It is potentially suitable as a replacement for current screening techniques.

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