Genetic analysis of pregnancy

so-called blood test for birth defects (triple test) is mandatory for all pregnant women who have been registered in the antenatal clinic.The optimal time of the meeting - 16-20 weeks of pregnancy.Under laboratory conditions defined quantitative indicators of fetal hormone alpha-fetoprotein (AFP), human chorionic gonadotropin (hCG) and esterola.Based on the results of the analysis can estimate the probability of the fetus malformations of the nervous system (cleft neural tube, spinal and cranial hernia, etc.), And chromosomal abnormalities (Down's syndrome, Turner's, Edwards et al.).

emphasize that according to the triple test can only estimate the probability of having malformations.In 90% of cases can be identified malformations of the nervous system and chromosomal abnormalities - only 60-70%.In addition, it is impossible to make a final conclusion on the basis of the triple test.If the test results are alarming doctor, he must appoint repeated ultrasound diagnosis and, if necessary, to resort to in

vasive methods (study of fetal cells, placental fluid or umbilical cord blood).If you suspect that fetal abnormalities pregnant woman is required to be sent for consultation to a geneticist.With special attention surveyed pregnant women at high risk.Risk factors include genetics:

  • women over the age of 35 years;
  • family history (chromosomal abnormalities with relatives on the maternal or paternal side);
  • chromosomal abnormalities in previously born children;
  • radiation exposure of a parent;
  • interruption of previous pregnancies miscarriages;
  • welcome prospective parents cytostatics and drugs for the treatment of epilepsy.

among expectant mothers tense debate about the appropriateness of the triple test and subsequent genetic research.The fact that the analysis is carried out on the date when termination of pregnancy already problematic.In addition, there are plenty of cases where despite all the terrible forecasts are born perfectly healthy babies.In contrast, 40% of women who gave birth to babies with Down syndrome, triple test does not reveal any abnormalities of the fetus.Should I talk about the psychological state of pregnant women who received a disappointing conclusion geneticists.

On the other hand, timely diagnosis of the pathology allows morally and financially prepare for the birth of a sick child.Some diseases, such as cleft palate and cleft lip, can be treated.The main thing - time to make the child the necessary operation.

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