Magzati-újszülöttkori fejlődési rendellenességek praenatalis ultrahangvizsgálatának eredményessége, a nehézségi és a bizonytalansági faktorok vizsgálata

Abstract: Introduction and aim: The birth prevalence of congenital malformations is around 2-3%. The aim of this study was to examine the efficacy of ultrasound diagnostics in detecting congenital malformations. Method: We have processed the prenatal sonographic and postnatal clinical details of 1867 inborn abnormalities in 1200 fetuses over a 7-year period. Results: The mean maternal age upon delivery/abortion was 29.96 ± 5.88 years. In 671 cases, the pregnancy concluded in delivery with a mean gestational age of 35.26 ± 4.2 weeks and mean weight of 2408.67 ± 944.41g. In case of the 529 abortions the mean gestational age was 19.88 ± 2.53 weeks. Seventy-three fetuses were chromosomally abnormal, while 211 had multiple malformations. Prenatal ultrasound was highly sensitive in the detection of central nervous system and thoracic anomalies in utero (72.65% vs. 67.7% sensitivity). The detection rate was high in case of abdominal (59.58%), urogenital (54.55%), and limb/skeletal (50%) malformations as well. However, the diagnosis of face/neck anomalies was somewhat less efficient (31.85%). Conclusions: In approximately half of the cases, postnatally diagnosed abnormalities coincided with the prenatally discovered congenital malformations. The results have confirmed that ultrasonography plays an important role in diagnosing malformations prenatally but it fails to detect all of the developmental abnormalities. Orv Hetil. 2017; 158(45): 1794–1801.