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Down syndrome (trisomiy of the 21st chromosome) is the most frequent reason leading to mental disability. Majority of the pregnant women wishes its prevention. It can be diagnosed from the amniotic fluid (in the 16-17th week) or from chorionic villus (placenta sample) (in 12-15th week). However sampling interventions have certain risk, therefore the examination cannot be offered in each pregnancy without selection; the target groups with increased risk have to be specified. These are:

  • affected child in the history
  • kiegyensúlyozott szülői transzlokáció
  • advanced age of the mother (over 35 years),
  • suspicious ultrasound markers
  • based on consideration of the result of the combined screening test performed in 12-13th week of pregnancy (age of the mother, thickness of nuchial folds measured with ultrasound, biochemical markers tested from maternal blood, e.g. free beta-hCG and PAPP-A plasma protein) the risk is increased
  • in 12-18th week of the pregnancy the fetal DNA fragment analysis made from the mother’s blood refers to chromosomal abnormality ( pl. PrenaTest®)

Frequency of Down syndrome at birth is 1/700-1/800 without screening; the risk is over 1/250 in case of the mentioned five groups with higher risk. Fetal chromosome analisys is professionally recommended in these cases. In case of balanced translocation in the family it is the single method available now for excluding the possibility of abnormality.

The risk of fetal chromosomal abnormalities in the given pregnancy has to be determined and informed for the expectant mother by the Genetic Counselling. The pregnant woman, or if she is accompanied with her partner (what we think to be very correct) the couple has to decide about sampling with invasive intervention.

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Pregnant women and their children first of all