[Biochemical screening in the second trimester of pregnancy from a genetic aspect].
OBJECTIVE
Evaluation of the efficiency of detection of inborn chromosomal aberrations by biochemical screening of pregnant women.


METHODS
Summary of 9-years study by karyotyping of amniocytes of pregnant women, when pathological levels of AFP, hCG, uE3 were detected. Ethical problems of genetic counselling of pregnant women.


METHODS
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 Test and computer programme Prenatal Software 1.2.K, cytogenetical examination of amniocytes from amniotic fluid after amniocentesis in II. trimester.


RESULTS
Among 6,471 pregnant women tested by Triple Test 20% had abnormal levels of test. In 1.5% of them an abnormal fetal karyotype was detected. Only 1/3 of them were Down Syndromes, we found also other types of aberrations. During ethically suitable counselling only 2/3 of pregnant women decided to terminate the pregnancy.


CONCLUSIONS
Biochemical screening of pregnant women in II. trimester is very important help for detection of inborn chromosomal aberrations. The women must be informed by suitable ethical approach.
Kucerová
M
M
Oddĕlení lékarské genetiky FTN, Subkatedra lékarské genetiky IPVZ, Praha.
Horácek
J
J
D000328:Adult; D006063:Chorionic Gonadotropin / Q000032:analysis; D002869:Chromosome Aberrations / Q000175:diagnosis*; D025063:Chromosome Disorders; D004314:Down Syndrome / Q000175:diagnosis; D004964:Estriol / Q000032:analysis; D005260:Female; D005817:Genetic Counseling; D005820:Genetic Testing; D006801:Humans; D007621:Karyotyping; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis; D000509:alpha-Fetoproteins / Q000032:analysis
D006063:Chorionic Gonadotropin; D000509:alpha-Fetoproteins; D004964:Estriol