Prenatal ultrasonographic prediction of homozygous type 1 α-thalassemia at 12 to 13 weeks of gestation

Nuchal translucency in fetuses affected by homozygous α‐thalassemia‐1 at 12–13 weeks of gestation

“…Impaired atrial contraction was found in all five trisomic fetuses with increased NT, but not in the normal fetuses 6 . At 12-13 weeks, all the fetuses affected by homozygous α-thalassemia-1 show cardiac enlargement 3 . Despite the cardiac changes, there is minimal increase in NT measurements.…”

“…The disease provides a unique model for the study of fetal physiological responses to anemia in the first trimester. We have shown previously that all the affected fetuses have cardiac enlargement at 12-13 weeks 3 , but only 7% will manifest hydropic changes at this gestation 4 . Recently, studies of cardiac gene expression of atrial natriuretic peptide and brain natriuretic peptide 5 and Doppler study of the ductus venosus 6 in trisomic fetuses suggested that their increased nuchal translucency (NT) may be the consequence of cardiac strain.…”

Fetal liver length measurement at mid-pregnancy among fetuses at risk as a predictor of hemoglobin Bart's disease

“…Theoretically, liver length measurement is particularly helpful in the prediction of severe anemia occurring in early gestation such as Hb Bart's disease as fetal anemia can develop in as early as 12 to 13 weeks of gestation. 6,7 Roberts et al 8 evaluated fetal liver length on 53 examinations conducted in 21 isoimmunized pregnancies and found that all fetuses with a Hb of <10.0 g per 100 ml had a liver length that was greater than the ninetieth percentile, suggesting that liver length is a useful indicator of the degree of fetal anemia in isoimmunized pregnancies. This is consistent with a preliminary report by Vintzileos et al 9 Similarly, fetuses with Hb Bart's disease, which is associated with severe anemia from early gestation, seem to have hepatomegaly at the same time.…”

Ductus venosus Doppler study in fetuses with homozygous α‐thalassemia‐1 at 12 to 13 weeks of gestation

“…Hence, ductus venosus Doppler study cannot be used to predict homozygous α-thalassemia-1 at 12-13 weeks. Instead, sonographic diagnosis of the disease should rely on the measurement of the cardiothoracic ratio and placental thickness 12,13 .…”