The diagnosis and follow-up of fetal anomalies based on serum beta-2 microglobulin level and pre-postnatal ultrasonography

Purpose: Significant improvement in prenatal diagnosis and follow-up of fetal anomalies has occurred in recent years. In our study, we investigated the role of prenatal ultrasonography and serum beta-2 microglobulin level in the diagnosis of fetal anomalies. Material and methods: A total of 29 cases who had fetal anomaly were investigated in our institution between February-November 2003. Prenatal ultrasonography was done initially. Fetal blood sample was taken by cordocentesis and serum beta-2 microglobulin level was measured and karyotyping was done. The postnatal physical as well as ultrasonographic findings and, in some cases, postnatal serum beta-2 microglobulin level were compared to antenatal diagnosis and fetal serum beta-2 microglobulin level. Results: Twenty-nine fetuses associated with fetal anomaly were reviewed prospectively. The most common type of anomaly was multysistem anomalies followed by urinary, central nervous and gastrointestinal system anomalies. Fetal serum beta-2 microglobulin level was greater than 3 mg/dl in 76.5% of fetuses. A total of 8 cases had no anomaly postnatally. A chromosomal abnormality was observed in 4 (14%) fetuses. The age of mother was older than 35 years in 50% of fetuses who had chromosomal abnormality. The most frequent type of anomaly was cardiovascular system anomalies in such fetuses associated with chromosomal abnormalities. Conclusions: The sensitivity of prenatal ultrasonography for diagnosis of fetal anomalies was 72%. Fetal serum beta-2 microglobulin level was relatively high in three-fouth of fetuses. As a result, serial sonographic evaluation and measurement of serum beta-2 microglobulin may be beneficial in prenatal diagnosis as well as follow-up of fetuses associated with or has suspition of fetal anomaly. However, serum beta-2 microglobulin might be more beneficial in a relatively homogenous fetal anomaly group. 37