title: Role of fetal echocardiography in stepwise sequential screening for chromosomal disorders (combined test associated with modified genetic sonography).
abstract: OBJECTIVE
  To evaluate the contribution made by fetal echocardiography in identifying Down's syndrome (DS) and other chromosomal disorders in a stepwise sequential screening method (first step: combined test (CT), second step: modified genetic sonography (MGS) (major malformation and nuchal fold)), for DS in the general population of pregnant women.
  
  
  METHODS
  Prospective study. During a 5-year study period (July 2005-June 2010) 17,911 pregnant women underwent CTs with MGS (with fetal cardiac morphological evaluation performed by obstetricians in a tertiary hospital) as a screening method for DS. We evaluated the sensitivity and false positive rate (FPR) (95% confidence interval (CI)) of three screening methods for DS and all chromosomal disorders: CT, CT + MGS, and CT + fetal echocardiography.
  
  
  RESULTS
  A total of 17,911 cases were analyzed with 67 chromosome disorders and 45 DS cases being found. For DS, the CT sensitivity was 80% (95% CI; 68.3-91.7) (36/45) and 79.1% (95% CI; 69.4-88.8) (53/67) for all chromosome disorders, with a FPR of 4.2% (95% CI; 3.9-4.5) (752/17,866) and 4.1% (95% CI; 3.8-4.4) (735/17,844), respectively. For CT + MSG and CT + fetal echocardiography, the sensitivity for DS was 93.3% (95% CI; 85.9-0.99) (42/45) and 95.5% (95% CI; 90.5-0.99) (64/67) for all chromosome disorders. The FPR for CT + MSG was 4.8% (95% CI; 4.5-5.1) (860/17,866) and 4.6% (95% CI; 4.3-4.9) (836/17,844), respectively. The FPR of CT + fetal echocardiography was 4.4% (95% CI; 4.1-4.7) (792/17,866) for DS screening and 4.3% (95% CI; 4-4.6) (770/17,844) for chromosome abnormality screening.
  
  
  CONCLUSIONS
  Fetal echocardiography is highly capable of identifying DS and other chromosomal disorders as a part of genetic sonography in stepwise sequential screening.
authors.affiliation: Department of Obstetrics and Gynaecology, Valme University Hospital, Seville, Spain. joseantoniosainz@hotmail.es
authors.forename: José A
authors.initials: JA
authors.lastname: Sainz
authors.forename: María Jesús
authors.initials: MJ
authors.lastname: Zurita
authors.forename: Carlota
authors.initials: C
authors.lastname: Borrero
authors.forename: Rosa
authors.initials: R
authors.lastname: Serrano
authors.forename: Enriqueta
authors.initials: E
authors.lastname: Turmo
authors.forename: Carmen
authors.initials: C
authors.lastname: Almeida
authors.forename: Virginia
authors.initials: V
authors.lastname: Caballero
authors.forename: Rogelio Garrido
authors.initials: RG
authors.lastname: Teruel
mesh_terms: D000328:Adult; D000465:Algorithms; D025063:Chromosome Disorders / Q000175:diagnosis / Q000000981:diagnostic imaging* / Q000453:epidemiology / Q000235:genetics; D004452:Echocardiography / Q000379:methods / Q000706:statistics & numerical data; D005260:Female; D005318:Fetal Heart / Q000000981:diagnostic imaging*; D005820:Genetic Testing / Q000379:methods / Q000706:statistics & numerical data; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000000981:diagnostic imaging / Q000453:epidemiology / Q000235:genetics; D008403:Mass Screening / Q000379:methods / Q000706:statistics & numerical data; D011247:Pregnancy; D015995:Prevalence; D012680:Sensitivity and Specificity; D016216:Ultrasonography, Prenatal / Q000379:methods* / Q000706:statistics & numerical data; D055815:Young Adult