[Common malformations in fetopathologic investigations between 1995 and 2006. Accuracy of ultrasonography confirmed by post mortem investigations].

UNLABELLED: Fetopathologic investigations are of great importance since they are aimed at assessing the risks of a malformation to recur in a mother's future pregnancy.

AIMS: The authors wished to assess and analyse the accuracy of ultrasonography based on the results of fetopathologic investigations in view of malformations of higher prevalence.

STUDY

DESIGN

The authors have processed the details of 683 cases affecting the nervous, cardiovascular, urinary and skeletal systems, and the abdominal/thoracic walls detected at our department in the period of 1995-2006.

RESULTS

No significant differences could be justified as far as the major statistical parameters of maternal and gestational ages at the time of the diagnosis were concerned. There were one or another positive detail in the history in a quarter of malformations affecting the central nervous, cardiovascular and skeletal systems and in one sixth of the cases with disorders of the urinary tract as well as the abdominal/thoracic wall. Urinary tract and cardiovascular malformations were far more common among male fetuses, while moderate female dominance could be observed in malformations of the central nervous system and of the abdominal/thoracic wall. In the four investigated groups of malformations, the proportion of sonographic diagnoses completely coinciding with the post mortem results was found to be approximately or more than 70%, but it was found to be much lower (38%) in urinary malformations. Based on the full sample, the cumulative proportion of coinciding sonographic and fetopathologic diagnoses were more than 63%, while completely incorrect ultrasonographic diagnoses amounted to 18%.

CONCLUSIONS

(Even multiple) sonographic investigations are to be performed in a genetic centre if urinary tract malformation with subsequent oligohydramnion is detected. Since the associability of omphalocele and chromosome aberrations has been an established fact, and because some of the cases with omphalocele have been diagnosed as gastroschisis, it may be advisable to perform chromosome investigations in ultrasonographically diagnosed cases of gastroschisis. In cases of VSD, echocardiography should be performed in high-risk pregnancies even if ultrasonography cannot reveal any changes in the patients.