Screening for chromosomal defects of the fetus, Down, Edwards’ and Patau’s syndrome, combined first trimester screening, integrated screening - Ultrasound examination Ostrava, Olomouc - Ishraq Dhaifalah - Centre of Fetal Medicine and Human Genetics Ostrava, Olomouc Ishraq Dhaifalah - Centre of Fetal Medicine and Human Genetics Ostrava, Olomouc


Screening for chromosomal defects of the fetus

Because some chromosomal aberrations are relatively common great effort is put towards their detection during pregnancy. Down syndrome (trisomy 21) is the commonest chromosomal defect, followed by Edwards’ syndrome (trisomy 18) and Patau’s syndrome (trisomy 13). Down syndrome is found in about one pregnancy in 800, Edwards and Patau syndrome are much rarer. The risk is lower in young women and increases markedly with age. There are several types of screening methods.

  1. One of the most accurate screening methods is a so called combined first trimester screening see also Ultrasound - I. trimester). This method calculates the risk of chromosomal aberration based on the age of the mother and the result of ultrasound examination of the fetus and biochemical markers obtained form a blood test from the mother.
  2. This is performed from a blood test of the mother at 16th week of pregnancy.
  3. Some units combine the result of first trimester screening and triple test – integrated screening.

When the screening result is positive, we invite the mother for a genetic consultation, when we explain the results and discuss further management. An invasive test is usually offered – either chorionic villus sampling or an amniocentesis. The mother decides herself, whether she wants to undertake the invasive testing.

When a chromosomal defect is confirmed by an invasive test the result is conveyed to the parents during genetic consultation. We explain the nature of the disability and the prognosis for the fetus. There is no way of changing or removing a chromosomal defect in a fetus. The purpose of the consultation is to explain all the consequences and to enable the parents to decide on the path they want to take. If the prognosis for the fetus is very unfavorable, it is possible to terminate the pregnancy on the basis of genetic indication until the 24th week of gestation. The decision on the fate of the pregnancy belongs to the parents and we always respect their decision.

FETMED s.r.o.

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