Biochemický screening těhotných ženv II. trimestru z genetického hlediska

Biochemical Screening of Pregnant Women in theSecond Trimester from the Genetic Aspect

Objective:
Evaluation of the efficiency of detection of inborn chromosomal aberrations by bioche-mical screening of pregnant women.Design: Summary of 9-years study by karyotyping of amniocytes of pregnant women, when patho-logical levels of AFP, hCG, uE3 were detected. Ethical problems of genetic counselling of pregnantwomen.Setting: Department of Medical Genetics FTN, Chair of Medical Genetics IPVZ, Prague 4.Methods: Biochemical screening of pregnant women in II. trimester of pregnancy by Triple Testand computer programme Prenatal Software 1.2.K, cytogenetical examination of amniocytes fromamniotic fluid after amniocentesis in II. strimester.Results: Among 6 471 pregnant women tested by Triple Test 20 % had abnormal levels of test. In1.5% of them an abnormal fetal karyotype was detected. Only 1/3 of them were Down Syndromes,we found also other types of aberrations. During ethicaly suitable counselling only 2/3 of pregnantwomen decided to terminate the pregnancy.Conclusion: Biochemical screening of pregnant women in II. trimester is very important help fordetection of inborn chromosomal aberrations. The women must be informed by suitable ethicalapproach.

Key words:
biochemical screening in pregnancy, Triple Test, amniocentesis, chromosomal aberra-tions