title: Early anatomy ultrasound in women at increased risk of fetal anomalies.
abstract: OBJECTIVE
  This study was designed to assess the accuracy of ultrasound anatomy screening before 17 weeks gestation in a population at high risk of fetal anomalies.
  
  
  METHODS
  Retrospective review of anatomy ultrasound examinations carried out between 12-17 weeks gestation in a high-risk population. Early sonographic findings were compared with the 18-22 week anatomy ultrasound, karyotype, echocardiogram and postnatal/postmortem results.
  
  
  RESULTS
  A complete anatomical survey was achieved in 68 of 101 screened fetuses (67%), with cardiac anatomy having the lowest completion rate (78/101; 77%). Anomalies were suspected on ultrasound in 23 fetuses. Four of these did not undergo pathologic examination but had clearly abnormal findings on ultrasound. Eighteen fetuses had a confirmed abnormal outcome. Sensitivity of early anatomy ultrasound was 83.3% (n = 15/18) and specificity 94.9% (n = 75/79). There were 3 false negative ultrasounds (16.6%: trisomy 21 with short humerus, choanal atresia and ventriculomegaly, and a ventricular septal defect). False positive rate was 4.0% (4 ventricular septal defects).
  
  
  CONCLUSIONS
  The high rate of visualization of anatomic structures between 12-17 weeks gestation allows for either early detection of fetal anomalies or parental reassurance in many cases. Subtle anomalies of the heart remain difficult to diagnose.
authors: Fetal Medicine Unit, Department of Obstetrics & Gynaecology, Mount Sinai Hospital, University of Toronto, Toronto, Canada.
authors: Janice
authors: J
authors: Lim
authors: Wendy L
authors: WL
authors: Whittle
authors: Yee-Man
authors: YM
authors: Lee
authors: Greg
authors: G
authors: Ryan
authors: Tim
authors: T
authors: Van Mieghem
mesh_terms: D000328:Adult; D003951:Diagnostic Errors / Q000706:statistics & numerical data; D042241:Early Diagnosis; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging* / Q000453:epidemiology / Q000209:etiology; D005333:Fetus / Q000033:anatomy & histology*; D005865:Gestational Age; D006801:Humans; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011262:Pregnancy Trimester, Second; D018566:Pregnancy, High-Risk; D012189:Retrospective Studies; D012680:Sensitivity and Specificity; D016216:Ultrasonography, Prenatal / Q000706:statistics & numerical data