title: [Biochemical screening in the second trimester of pregnancy from a genetic aspect].
abstract: 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.
authors.affiliation: Oddĕlení lékarské genetiky FTN, Subkatedra lékarské genetiky IPVZ, Praha.
authors.forename: M
authors.initials: M
authors.lastname: Kucerová
authors.forename: J
authors.initials: J
authors.lastname: Horácek
mesh_terms: 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
chemical_list: D006063:Chorionic Gonadotropin; D000509:alpha-Fetoproteins; D004964:Estriol