Diagnostic performance of routine ultrasound screening for fetal abnormalities in an unselected Swedish population in 2000–2005

Abstract

To determine the detection rate of fetal malformations and chromosomal abnormalities and the rate of false-positive ultrasound diagnoses at routine ultrasound examinations carried out by specially trained midwives in an unselected pregnant population from 2000 to 2005, and to describe the consequences of true-positive and false-positive ultrasound diagnoses of fetal malformations. A retrospective analysis was undertaken of all babies born in Malmö, Sweden, between January 2000 and December 2005 by mothers residing in Malmö and of all fetuses with an ultrasound diagnosis of malformation made in the same time interval at the two units performing all routine pregnancy scans in Malmö. All women underwent two routine scans, at 18 and 32 weeks, including scrutiny of the fetal anatomy. Detection rates and false-positive rates were calculated per fetus. The prevalence of chromosomally abnormal fetuses was 0.31% (52/16 775); that of chromosomally normal fetuses with major and minor malformations was 1.80% (302/16 775) and 1.32% (222/16 775), respectively. The detection rate of fetuses with major malformations but normal chromosomes was 68% (205/302), with a detection rate at < 22 weeks of 37% (112/302). In addition, 46% (24/52) of all chromosomally abnormal fetuses were diagnosed before birth because a malformation was detected at ultrasound imaging, 33% (17/52) being detected at < 22 gestational weeks. In all, 68 pregnancies were terminated because of an ultrasound diagnosis of fetal malformation (0.4% of all pregnancies and 47% of the pregnancies in which a fetal malformation was detected by ultrasound examination before 22 weeks). A false-positive ultrasound diagnosis of malformation was made in 0.19% (31/16 180) of the normally formed fetuses and in 20 (0.12%) fetuses the abnormal finding persisted during pregnancy. No fetus assigned a false-positive diagnosis was lost by termination of pregnancy, but most were subjected to one or more unnecessary interventions before birth (e.g. amniocentesis), at birth (e.g. Cesarean section) or after birth (e.g. electrocardiogram, X-ray, ultrasound examination or treatment with antibiotics). In a screening program consisting of one fetal anomaly scan at 18 weeks and another at 32 weeks the detection rate of major malformations in chromosomally normal fetuses was 68% with a detection rate of 37% at < 22 weeks. The corresponding detection rates of chromosomally abnormal fetuses were 46% and 33%. Fewer than one in 500 screened fetuses had an ultrasound diagnosis of an anomaly that was not confirmed after birth.