Ductus venosus Doppler study in fetuses with homozygous alpha-thalassemia-1 at 12 to 13 weeks of gestation.

OBJECTIVE: Fetuses affected by homozygous alpha-thalassemia-1 are anemic from the first trimester of pregnancy. We investigated ductus venosus Doppler velocimetry in these affected fetuses at 12-13 weeks of gestation. DESIGN: Prospective observational study. SUBJECTS: Women referred for the prenatal diagnosis of homozygous alpha-thalassemia-1 before 14 weeks of gestation. METHODS: All fetuses underwent pulsed Doppler investigations following color flow mapping at 12 or 13 weeks of gestation. Homozygous alpha-thalassemia-1 was diagnosed by DNA or hemoglobin study. The ductus venosus Doppler indices--Vmax (peak velocity during ventricular systole), Vmin (minimum forward velocity during atrial systole), TAMX (time-averaged maximum velocity), PIV (pulsatility index for veins, Vmax-Vmin/TAMX), PLI (preload index, Vmax-Vmin/Vmax) and Vmax/Vmin ratio--were compared between the affected fetuses and fetuses unaffected by homozygous alpha-thalassemia-1. RESULTS: Between June 1998 and October 1999, 102 eligible women were recruited. Fetal ductus venosus Doppler study was successful in 96 pregnancies (94%). Of these, 20 fetuses were affected by homozygous alpha-thalassemia-1. None of them showed hydropic changes at the time of Doppler study. The affected fetuses had significantly higher ducts venosus Vmax (30% increase), Vmin (50% increase) and TAMX (20% increase) and significantly lower Vmax/Vmin ratio, PIV and PLI values. CONCLUSION: Fetuses affected by homozygous alpha-thalassemia-1 at 12-13 weeks had increased forward flow velocities in the ductus venosus throughout the cardiac cycle. The increase of venous return is consistent with our previous report of cardiac dilatation and an increase of cardiac output in the affected fetuses at this stage as a compensatory mechanism for anemia and hypoxia. However, extensive overlap of the ductus venosus Doppler indices between affected and unaffected fetuses precludes its use in predicting anemia at 12-13 weeks.