title: [Week of pregnancy in which birth defects were prenatally diagnosed in the Czech Republic in 1996-2002].
abstract: OBJECTIVE
  To evaluate the week of pregnancy in which birth defects were prenatally identified and the week of pregnancy in which pregnancy was terminated due to these defects in the Czech Republic in the period from 1996 to 2002. As regards data on Down's Syndrome, comparison to the data from other countries.
  
  
  METHODS
  A retrospective study, which identifies the week of pregnancy when congenital defects are identified through invasive as well as non-invasive prenatal diagnostics and the week of pregnancy when the pregnancy is terminated because of these defects.
  
  
  METHODS
  The data were obtained from individual medical genetics facilities. The data are stated for all defects prenatally diagnosed as well as for the defects, which are most frequently prenatally diagnosed - from among neural tube defects, anencephaly and spina bifida were covered; from among abdominal fissures, omphalocele and gastroschisis were covered. Out of inborn chromosomal aberrations, the most frequently diagnosed chromosomal aberration - Down's Syndrome - was covered.
  
  
  RESULTS
  The average time of prenatal diagnostics of the birth defects was 19.48 week and the average time of termination of pregnancy due to these defects was 20.11 week. Anencephaly was diagnosed after 17.16 weeks and terminated after 17.84 weeks of the pregnancy on the average. Prenatal diagnostics of spina bifida was carried out after 19.25 weeks and terminated after 19.70 weeks. Omphalocele was identified after 17.55 weeks and terminated after 17.99 weeks. The second type of defect of abdominal wall - gastroschisis was identified after 17.93 weeks and terminated after 18.65 weeks. On the average, Down's Syndrome was diagnosed after 19.81 weeks and terminated after 20.43 weeks. It can be said about all the defects that during the monitored years there was a slight reduction of the period after which the defect was identified as well as of the period after which pregnancy was terminated.
  
  
  CONCLUSIONS
  For all the presented selected birth defects as well as for the defects as a whole, it can be said that during the monitored years there was a slight reduction of the average period after which the defects were identified and as well as of the average period after which pregnancy was terminated.
authors.affiliation: Oddeleni lékarské genetiky, Fakultní Thomayerova nemocnice, Praha. vladimir.gregor@ftn.cz
authors.forename: V
authors.initials: V
authors.lastname: Gregor
authors.forename: A
authors.initials: A
authors.lastname: Sípek
authors.forename: J
authors.initials: J
authors.lastname: Horácek
authors.forename: D
authors.initials: D
authors.lastname: Masátová
authors.forename: K
authors.initials: K
authors.lastname: Svetnicová
mesh_terms: D000013:Congenital Abnormalities / Q000175:diagnosis*; D018153:Czech Republic; D005260:Female; D006801:Humans; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis