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PRENATAL TESTING

Huge medical advances in recent years led to a comprehensive, non-invasive diagnosis of the fetus.

Ultrasound examination and biochemical tests, performed in pregnant women, out of total holdings in the determination of individual risk in a case of Down syndrome and other genetic abnormalities. In a situation where the only criterion to perform invasive diagnostic tests to assess fetal karyotype is the age of the pregnant (over 35), it is possible to prenatal detection of only about 30% of Down's teams. It follows that the remaining 70% of cases occur in younger women, so called from outside. risk groups. This raises the need for a noninvasive test of a screening, and so performed in all pregnant women. At the moment we have such tests - these are specialized ultrasound and dedicated for that purpose biochemical research. Below are shown the effectiveness of various diagnostic methods in the detection of Down syndrome:

  • screening based on maternal age has a sensitivity of 30% in detecting Down syndrome
  • Screening for performance measurement of nuchal translucency ultrasound - NT has a sensitivity of 80% in detecting Down syndrome
  • Screening based on the results of biochemical tests of blood of pregnant (free beta-hCG and PAPP-A) has a sensitivity of 60% in detecting Down syndrome
  • a combination of both methods - ultrasound - the measurement of NT and maternal blood test (free beta-hCG and PAPP-A) has a sensitivity of 90% in detecting Down syndrome


  • A crucial element of this diagnosis is that the test must be performed at the appropriate level. Muszą być zatem spełnione następujące warunki: They must therefore be met:
  • experience of the person engaging in research, supported by appropriate certificate (Certificate of Competency issued by the Fetal Medicine Foundation [FMF] - the Media Center for Medical Diagnostic such certificate shall have a 4 person performing this type of study)
  • appropriate ultrasound device that provides detailed research and implementation of repeated measurements (in the Medical Diagnostic Center is a multimedia device Voluson 730Pro GE, which is a very high-end camera that meets all the requirements FMF)
  • biochemical analyzer, providing standardized to obtain results, based on standards developed on the few hundreds thousands of the population of patients (Multimedia Medical Diagnostic Center is the only Warsaw has Delfi Express analyzer, which is one of two types of analyzers, which are considered by the FMF)
  • computer program for risk assessment, certified by the Fetal Medicine Foundation, which is compatible with biochemical analyzer (Media Medical Diagnostic Center has a program ASTRAIA, one of two programs that meet the requirements FMF).


  • By conducting this type of diagnosis can be prominent increase in the effective investigation of pregnancies with Down syndrome and other genetic abnormalities. On the other hand, non-invasive tests to be conducted properly exercise reduces the incidence of invasive diagnostic procedures, reserving the need for their implementation to only those cases in which the results of ultrasound and biochemical tests are abnormal and show a particularly high risk of the presence of genetic syndrome. The success of this diagnosis, however, is keeping her on a large scale, among all pregnant women, not only in women with potential risk groups - this should be so - as shown above - a screening test.

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