Ultrasound and autopsy findings in fetuses with omphalocele and gastroschisis
MetadataShow full item record
Objective: This study compares prenatal ultrasound findings and autopsy findings in fetuses and infants with gastroschisis and omphalocele. Design: Criteria for inclusion in the study were an autopsy of fetuses/infants with gastroschisis or omphalocele performed between January 1985 and December 2009 and a prenatal ultrasound examination performed at the National Center for Fetal Medicine (NCFM) at St. Olavs Hospital, Trondheim University Hospital. Results from the ultrasound and autopsy examinations were organized into five categories depending on the degree of agreement, and date from the three time periods (1985-1994, 1995-2004 and 2005 -2009) were compared. Results: There were 11 fetuses with gastroschisis and 70 fetuses with omphalocele. There was only one fetus with gastroschisis that was not detected at the prenatal ultrasound examination. In ten of the eleven cases there was full agreement between prenatal ultrasound and autopsy findings. Two fetuses with omphalocele were not diagnosed at prenatal ultrasoundexaminations. Four (15%) cases had major autopsy findings not detected prenatally. The main diagnosis (category 1 and 2) was correct in 64/70 (91%) cases, with the two last periods having the main diagnosis correct in 96 % and 95 % compared to 85 % in the first period. The number of cases with major and minor autopsy findings not detected by ultrasound was reduced from 48 % during the first period to 21 % in the two next periods. Full agreement occurred in 46/70 (66 %). Successful karyotyping was performed in 62/70 cases and abnormal karyotype was present in 43/62 (69 %). Trisomy 18 was most frequent with 37/43 (86%) cases. Conclusion: This study shows that the correlation of prenatal ultrasound diagnosis and post mortem examination is good and has improved over time with an increased number of cases in the category «full agreement» during the two last periods.