A systematic review of the accuracy of first-trimester ultrasound examination for detecting major congenital heart disease

Ultrasound Obstet Gynecol. 2006 Jul;28(1):110-6. doi: 10.1002/uog.2803.


Objective: To evaluate the accuracy of first-trimester ultrasound examination in detecting major congenital heart disease (CHD) using a systematic review of the literature.

Methods: General bibliographic and specialist computerized databases along with manual searching of reference lists of primary and review articles were used to search for relevant citations. Studies were included if a first-trimester ultrasound scan was carried out to detect CHD that was subsequently verified by a reference standard. Data were extracted on study characteristics and quality, and 2 x 2 tables were constructed to calculate sensitivity and specificity.

Results: Ten studies (involving 1243 patients) were suitable for inclusion. Of these, four used transabdominal ultrasonography, four used transvaginal and two used a combination. Pooled sensitivity and specificity were 85% (95% CI, 78-90%) and 99% (95% CI, 98-100%), respectively.

Conclusion: Ultrasound examination of the fetus in the first trimester is feasible for accurately detecting major CHD. It may be offered to women at high risk of having children with CHD.

Publication types

  • Review
  • Systematic Review

MeSH terms

  • Echocardiography*
  • Female
  • Heart Defects, Congenital / diagnostic imaging*
  • Humans
  • Pregnancy
  • Pregnancy Trimester, First*
  • Ultrasonography, Prenatal*