Screening for hemoglobin Bart’s disease among fetuses at risk at mid-pregnancy using the fetal cardiac diameter to biparietal diameter ratio

BACKGROUND: All sonomarkers used to screen for fetal hemoglobin (Hb) Bart’s disease need high expertise, preventing them from being widely used. Fetal cardiac diameter to biparietal diameter (C/B) ratio is a simple marker which has never been evaluated for its effectiveness. Therefore, we conducted this study to evaluate the effectiveness of C/B ratio in predicting fetal Hb Bart’s disease among fetuses at risk. METHODS: Fetuses at risk of Hb Bart’s disease scheduled for diagnostic cordocentesis at 18 to 22 weeks of pregnancy were prospectively enrolled. All underwent ultrasound for fetal biometry and cardio-STIC acquisition for subsequent off-line analysis. Cardio-STIC volume datasets (VDS) were analyzed for cardiac diameter measurement and C/B ratio was calculated by the authors who did not know the fetal diagnosis. Final diagnosis of Hb Bart’s disease was based on fetal blood Hb typing. RESULTS: Of 131 pregnancies enrolled to the study, 11 were excluded because of poor quality VDS. The remaining 120 were available for analysis. C/B ratio was significantly higher in the fetuses with Hb Bart’s disease than that in the unaffected ones (53.16% vs 41.68%, P < 0.001). C/B ratio could detect fetuses with Hb Bart’s disease with sensitivity of 91.5% and specificity of 77.6% (AUC ROC 0.929), using a cut-off point of greater than 45%. CONCLUSIONS: Among fetuses at risk, C/B ratio measurement at mid-pregnancy, using cut-off point of 45%, could effectively differentiate fetuses with Hb Bart’s disease from unaffected fetuses.