Prenatal diagnosis of cardiac defects: accuracy and benefit

Prenatal Diagnosis, 04/13/2012

Prenatal diagnosis was accurate and the counselling appropriate in most cases; however, a few errors were made. The diagnosis of aortic coarctation remains challenging.


  • Single centre retrospective study of echocardiography referrals between April 1999 and December 2008.
  • Authors compared the prenatal and postnatal cardiac diagnoses, the modified Aristotle and Wald scores.
  • The final diagnosis Wald score was used to evaluate benefit.


  • Six hundred fetuses were included. Diagnoses included: normal heart (312, 52%); congenital heart defect (CHD) (231, 38.5%); primary arrhythmia (39, 6.5%); or cardiomyopathy, myocarditis or cardiac tumor (18, 3%).
  • The prenatal and postnatal Aristotle and Wald scores correlated in 81% and 86%, respectively, each with significant differences in 22 cases.
  • Four significant CHDs were misdiagnosed, the surgical prediction was incorrect in 7 and 13 false positive diagnoses of aortic coarctation were made.
  • In 76% (455/600) fetuses prenatal diagnosis was considered beneficial.
  • The average CHD Aristotle score was 9.5±5.0. In babies with CHDs and normal karyotype the score was either 6.5±5.0, 12.9±3.1 or 13.2±2.9, in survivors, cases of postnatal demise and cases of pregnancy termination, respectively.

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