title: Amniocentesis performed for karyotyping after identified ultrasonographic abnormalities: what to expect?
abstract: OBJECTIVE
  The aim of this study was to evaluate the relative risk of identifying fetal chromosomal anomalies after finding ultrasonographic (US) abnormalities in a high-risk population who underwent amniocentesis.
  
  
  METHODS
  A retrospective review of a cohort of patients with single pregnancies who underwent genetic amniocentesis was undertaken. Univariate and multivariate analysis were used to determine the best correlations between US findings and chromosomal abnormalities.
  
  
  RESULTS
  Overall, 191 chromosomal abnormalities were found in 5,604 fetuses (3.4%). Multivariate analysis showed chromosomal abnormalities were significant ly associated with anomalies of the central nervous system (OR = 4.4, 95% CI 2.2-8.7), face and neck (OR = 15.7, 95% CI 9.2-26.8), heart (OR = 5.4, 95% CI 2.6-11.2), abdomen (OR = 5.6, 95% CI 2.9-10.9), extremities (OR = 5.7, 95% CI 2.4-13.4), an increased nuchal fold (OR = 5.2, 95% CI 3.3-8.1), an intrauterine growth restriction (OR = 3.6, 95% CI 1.6-7.9) and a short femur (OR = 4.1, 95% CI 1.4-12.1).
  
  
  CONCLUSIONS
  Our results confirm the validity of specific US markers in detecting chromosomal abnormalities in the fetus.
authors.affiliation: Department of Obstetrics and Gynecology, Hôpital d'Instruction des Armées Begin, Saint-Mandé, France. patrice.gaudry@laposte.net
authors.forename: Patrice
authors.initials: P
authors.lastname: Gaudry
authors.forename: Maxime
authors.initials: M
authors.lastname: Esvan
authors.forename: Jean-Baptiste
authors.initials: JB
authors.lastname: Meynard
authors.forename: Aziza
authors.initials: A
authors.lastname: Lebbar
authors.forename: Agnès
authors.initials: A
authors.lastname: Choiset
authors.forename: Fanny
authors.initials: F
authors.lastname: Lewin
authors.forename: Vassili
authors.initials: V
authors.lastname: Tsatsaris
authors.forename: Emmanuelle
authors.initials: E
authors.lastname: Pannier
authors.forename: Gilles
authors.initials: G
authors.lastname: Grange
mesh_terms: D000328:Adult; D000649:Amniocentesis; D002869:Chromosome Aberrations / Q000706:statistics & numerical data*; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000453:epidemiology; D015331:Cohort Studies; D005260:Female; D006801:Humans; D007621:Karyotyping; D015999:Multivariate Analysis; D011237:Predictive Value of Tests; D011247:Pregnancy; D015995:Prevalence; D012189:Retrospective Studies; D016216:Ultrasonography, Prenatal