Objective
To determine the best cutoff value of middle cerebral artery peak systolic velocity (MCA‐PSV) for the diagnosis of fetuses with homozygous alpha thalassemia‐1 disease.
Methods
Pregnancies at risk for fetal homozygous alpha thalassemia‐1 disease at 18 to 22 weeks were recruited. MCA‐PSV was measured before cordocentesis for hemoglobin typing and complete blood count. The performance of the MCA‐PSV for identifying affected fetuses was evaluated using a best cutoff value derived from the receiver operating characteristic (ROC) curve.
Results
Among 142 fetuses at risk, 46 (32.4%) fetuses were diagnosed as affected by homozygous alpha thalassemia‐1 disease and were categorized as mild anemia (16.3%), moderate anemia (58.1%), and severe anemia (25.6%). With the best cutoff point of MCA‐PSV > 1.30 multiples of the median (MoM) or >30.0 cm/s, the sensitivity for predicting fetal homozygous alpha thalassemia‐1 was 100%.
Conclusions
MCA‐PSV > 1.30 MoM is the best cutoff value for the diagnosis of all degrees of fetal anemia from homozygous alpha thalassemia‐1 fetuses. Because of its simplicity for interpretation and high efficacy, a cutoff value of MCA‐PSV > 30 cm/s can also be used as an alternative marker for fetal anemia screening during 18 to 22 weeks of gestation.