title: 'Normal' nuchal translucency: a justification to refrain from detailed scan? Analysis of 6858 cases with special reference to ethical aspects.
abstract: OBJECTIVE
  To assess the prevalence and detection rate of major anomalies (MAs) by applying first trimester anomaly scan (FTAS) including first trimester fetal echocardiography (FTFE) to all fetuses and discuss ethical implications.
  
  
  METHODS
  The study group included 6879 consecutive fetuses with known outcome of pregnancy (follow-up: 98%), 6565 with 'normal' nuchal translucency (NT) (≤ P95), 314 with 'increased' NT (> P95). All fetuses received FTAS/FTFE. As MAs with the potential of being detected at FTAS/FTFE, we defined anomalies present at conception or developed during first trimester.
  
  
  RESULTS
  Prevalence of MAs in fetuses with 'normal' NT reached 1.7%. Although 29.8% of chromosomal abnormalities were found in the group of 'normal' NT, 77% of MAs accompanied by a normal karyotype were found in this group. In fetuses with 'normal' NT and MA, diagnosis was made prenatally in 87.4% (FTAS/FTFE: 58.6%).
  
  
  CONCLUSIONS
  A relevant number of MA is present in fetuses with 'normal' NT. More than half will be detected by FTAS/FTFE. As consequence, one should discuss a concept in which also in fetuses with 'normal' NT, FTAS/FTFE should be offered. This concept can also be justified from an ethical point of view, which focuses on the principles of nonmaleficence, justice and respect for autonomy of the pregnant woman.
authors.affiliation: Center for prenatal diagnostics and human genetics, Charité, Berlin, Germany. bedaktari@t-online.de.
authors.forename: Rolf
authors.initials: R
authors.lastname: Becker
authors.forename: Lothar
authors.initials: L
authors.lastname: Schmitz
authors.forename: Stefania
authors.initials: S
authors.lastname: Kilavuz
authors.forename: Markus
authors.initials: M
authors.lastname: Stumm
authors.forename: Rolf-Dieter
authors.initials: RD
authors.lastname: Wegner
authors.forename: Uta
authors.initials: U
authors.lastname: Bittner
mesh_terms: D002869:Chromosome Aberrations / Q000196:embryology; D000013:Congenital Abnormalities / Q000000981:diagnostic imaging*; D005188:False Negative Reactions; D005260:Female; D005318:Fetal Heart / Q000000981:diagnostic imaging; D005865:Gestational Age; D006801:Humans; D048208:Nuchal Translucency Measurement / Q000941:ethics*; D011247:Pregnancy; D011256:Pregnancy Outcome; D016216:Ultrasonography, Prenatal / Q000941:ethics*