Ultrasound screening for fetal anomalies in southern Sweden: a population-based study

The accuracy of ultrasound in the diagnosis of congenital malformations has been the subject of many studies. Most of these are hospital-based studies over a limited period of years presenting high detection rates and also relatively high incidence of major malformations. We present here a large population-based study over a long period of years.

The prenatal diagnoses are compared with the diagnoses of the newborns and aborted fetuses, including autopsy results. The detection rate of some common structural malformations is studied.

The overall detection rate of malformations in our study was 28.4%. We noticed an improved detection rate of heart defects and cleft lip during the study period. The prevalence of malformations in the population was 2.6%. The false positive diagnoses were few, 54 cases, and mainly of a mild nature.

Ultrasound screening of fetal malformations in our population has a low false positive rate and even though the overall sensitivity is low, 28.4%, the detection rate for many common structural malformations is relatively good.