title: [Effect of noninvasive first trimester diagnosis on indications and results of chorion villi sampling].
abstract: OBJECTIVE
  In this explorative study it should be evaluated how the introduction of non invasive first trimester diagnosis (nuchal translucency measurement, Combined Test, first trimester ultrasound screening) has influenced the indications and cytogenetic results of chorion villi samplings.
  
  
  METHODS
  Between 1989 and 2008 3337 pregnancies with CVS between 11 and 14 weeks of gestation were examined retrospectively. They were divided in two groups: CVS 1989 - 2001 before introduction of non invasive first trimester diagnosis (n = 1698) and CVS 2002 - 2008 after introducing non invasive testing at the end of 2001 (n = 1639). In both groups the indications for CVS (maternal age, sonographic findings, past history, maternal anxiety, and abnormal results of the Combined Test only in the second group) and the cytogenetic results were evaluated.
  
  
  RESULTS
  In the first group (1989 - 2001, n = 1698) 85,6% (n = 1454) of all CVS were performed because of maternal age and only 3% (n = 51) due to sonographic findings. In the second group (2002 - 2008, n = 1639) there was a distinct increase of sonographic findings leading to CVS (33,9%, n = 555) with a clear decrease of maternal age to 37,9% (n = 621). Abnormal cytogenetic results were found in 10,5% (n = 172) in the second group, in the first group only in 4,5% (n = 76), respectively. The parameter with the highest rate of chromosomal disorders was fetal hydrops (66,1%), follwed by hygroma colli (48,2%), malformations (12,9%) and increased nuchal translucency (11,2%). Regarding maternal age alone the rate of abnormal chromosomes was 3,1%.
  
  
  CONCLUSIONS
  It could be shown that non invasive first trimester diagnosis has lead to a more specific indication for invasive fetal testing (sonographic findings 33,9 vs. 3%, maternal age 37,9 vs. 85,6%) with a higher rate of chromosomal disorder in this group (10,5 vs. 4,5%).
authors.affiliation: Abteilung für Pränatalmedizin, Landesfrauen- und Kinderklinik Linz, Österreich. wofgang.arzt@gespag.at
authors.forename: W
authors.initials: W
authors.lastname: Arzt
authors.forename: F
authors.initials: F
authors.lastname: Klement
authors.forename: I
authors.initials: I
authors.lastname: Veit
authors.forename: B
authors.initials: B
authors.lastname: Stadlober
authors.forename: H C
authors.initials: HC
authors.lastname: Duba
authors.forename: B
authors.initials: B
authors.lastname: Günther
authors.forename: D
authors.initials: D
authors.lastname: Wertaschnigg
mesh_terms: D000328:Adult; D015193:Chorionic Villi Sampling; D002869:Chromosome Aberrations; D000013:Congenital Abnormalities / Q000000981:diagnostic imaging* / Q000235:genetics / Q000517:prevention & control; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D018191:Lymphangioma, Cystic / Q000000981:diagnostic imaging; D008423:Maternal Age; D048208:Nuchal Translucency Measurement; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D012189:Retrospective Studies; D012680:Sensitivity and Specificity; D016216:Ultrasonography, Prenatal