Prenatal detection of heart defects in a non‐selected population of 30 149 fetuses—detection rates and outcome

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Abstract
Objectives: To evaluate the detection rate of congenital heart defects (CHD) in a non‐selected population and to follow outcome after diagnosis.Methods: All 30 149 fetuses/newborns that were scheduled to deliver at our hospital between February 1991 and December 2001 were registered prospectively. Of these, 29 460 (98%) fetuses had a prenatal ultrasound scan at our center. The routine fetal examination at approximately 18 weeks' gestation included the four‐chamber view and the great arteries of the fetal heart. The follow‐up period was 2–13 years.Results: Of 97 major CHDs, 55 (57%) were detected prenatally, 16% (9/55) prior to, 66% (36/55) at and 18% (10/55) after the routine scan. Forty‐four percent (19/43) of the isolated CHDs, 67% (36/54) of those with associated malformations and 48% (11/23) of the isolated ductal‐dependent CHDs were detected. Thirty‐eight percent (37/97) had an abnormal karyotype. Of the 55 major CHDs detected, 44% (24) of the pregnancies with lethal/serious fetal malformations were terminated, 15% (8) died in utero, 42% (23) were born alive and 27% (15) were still alive after 2 years. Of the 42 CHDs detected postnatally, 2% (1) were terminated for other reasons, 98% (41) were born alive and 81% (34) were still alive after 2 years.Conclusions: Prenatal detection of CHD is still a challenge, with a 57% detection rate only. Isolated defects are detected less frequently. The overall outcome suggests that the most severe defects are detected with the present screening setting; only 27% of the babies with major CHDs detected were still alive after 2 years. Data from long‐term follow‐up will be of importance for the counseling process. Copyright © 2006 ISUOG. Published by John Wiley & Sons, Ltd.