Ultrasonographic prediction of homozygous α⁰-thalassemia using placental thickness, fetal cardiothoracic ratio and middle cerebral artery Doppler: alone or in combination?

Objective To compare the predictive values of three ultrasonographic parameters: placental thickness (PT), fetal cardiothoracic ratio (CTR) and middle cerebral artery peak systolic velocity (MCA-PSV), alone or in combination, in pregnancies affected by homozygous alpha(0)-thalassemia at 12-20 weeks' gestation. Methods Pregnant women at risk of carrying a fetus affected by homozygous alpha(0)-thalassemia were studied front 1995 to 2006 using serial ultrasonography at 12-15 weeks, 16-20 weeks and 30 weeks' gestation. We measured CTR and PT from 1995, and MCA-PSV as well from 1997. An invasive prenatal test was offered if cardiomegaly with or without placentomegaly was detected but the MCA-PSV results were used only retrospectively for analysis. Results Of a total of 777 at-risk fetuses studied, 138 (17.8%) were affected by homozygous alpha(0)-thalassemia. At 12-15 weeks' gestation, 598 ultrasound examinations were performed. CTR was better than both PT and MCA-PSV in the prediction of affected pregnancies. The highest sensitivity (98.3%) was achieved by the combination of CTR and/or MCA-PSV at a false-positive rate of 15.8%. At 16-20 weeks' gestation, 410 ultrasound-examinations were performed, 121 of which were at the patient's first visit and 289 of which were at a follow-tip visit. Both CTR and MCA-PSV predicted the affected pregnancies equally well. The sensitivity of CTR was 100.0%, but the false-positive rate was 5.2%. In contrast, the false-positive rate of MCA-PSV alone was 1.4% and that of the combination of CTR and MCA-PSV was 0%, although their sensitivities were less than 65%. Conclusions The data suggest that adding MCA-PSV to CTR in the prediction of homozygous alpha(0)-thalassemia can increase the sensitivity at 12-15 weeks and decrease the false-positive rate at 16-20 weeks' gestation. Copyright (C) 2010 ISUOG. Published by John Wiley & Sons, Ltd.