Improved detection rate of structural abnormalities in the first trimester using an extended examination protocol

Ultrasound Obstet Gynecol. 2013 Sep;42(3):300-9. doi: 10.1002/uog.12489.


Objective: To assess the potential of first-trimester sonography in the detection of fetal abnormalities using an extended protocol that is achievable with reasonable resources of time, personnel and ultrasound equipment.

Methods: This was a prospective two-center 2-year study of 5472 consecutive unselected pregnant women examined at 12 to 13 + 6 gestational weeks. Women were examined using an extended morphogenetic ultrasound protocol that, in addition to the basic evaluation, involved a color Doppler cardiac sweep and identification of early contingent markers for major abnormalities.

Results: The prevalence of lethal and severe malformations was 1.39%. The first-trimester scan identified 40.6% of the cases detected overall and 76.3% of major structural defects. The first-trimester detection rate (DR) for major congenital heart disease (either isolated or associated with extracardiac abnormalities) was 90% and that for major central nervous system anomalies was 69.5%. In fetuses with increased nuchal translucency (NT), the first-trimester DR for major anomalies was 96%, and in fetuses with normal NT it was 66.7%. Most (67.1%) cases with major abnormalities presented with normal NT.

Conclusions: A detailed first-trimester anomaly scan using an extended protocol is an efficient screening method to detect major fetal structural abnormalities in low-risk pregnancies. It is feasible at 12 to 13 + 6 weeks with ultrasound equipment and personnel already used for routine first-trimester screening. Rate of detection of severe malformations is greater in early- than in mid-pregnancy and on postnatal evaluation. Early heart investigation could be improved by an extended protocol involving use of color Doppler.

Keywords: color Doppler; congenital abnormalities; first trimester; prenatal diagnosis; screening; ultrasound.

Publication types

  • Multicenter Study

MeSH terms

  • Adult
  • Central Nervous System* / abnormalities
  • Central Nervous System* / diagnostic imaging
  • Echocardiography, Doppler, Color / methods*
  • Feasibility Studies
  • Female
  • Heart Defects, Congenital / diagnostic imaging*
  • Humans
  • Pregnancy
  • Pregnancy Trimester, First*
  • Prospective Studies
  • Ultrasonography, Prenatal / methods*