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

Abstract

Objective. Fetuses affected by homozygous α-thalassemia-1 are anemic in the first trimester. We studied their nuchal translucency (NT) measurements at 12-13 weeks of gestation. Methods. Nuchal translucency was measured prospectively in fetuses at risk of homozygous α-thalassemia-1. Measurements of those fetuses subsequently confirmed to be affected by homozygous α-thalassemia-1 but with a normal Karyotype were compared to those of 440 controls. The controls were from the general obstetric population who had NT measurements at 12 or 13 weeks with known normal outcome. All the NT measurements were expressed as multiples of the median (MoM) for the gestational day. Results. Between 1996 and 1998, 94 at-risk pregnancies were studied. Of these, 32 were subsequently confirmed to be affected by homozygous α-thalassemia-1. Chromosome study was not carried out in three cases and these were excluded from the analysis. Nuchal translucency MoMs for cases and controls were found to fit a log Gaussian distribution. The log means (standard deviation) for case and control NT MoM were 0.075 (0.156) and -0.0019 (0.091), respectively. The median NT MoM (95% CI) for cases was 1.19 (1.08-1.62) and was significantly higher than that of the controls (p < 0.001). However, there was extensive overlap of NT between cases and controls. Conclusion. Overall, there was a 19% increase in NT MoM in fetuses affected by homozygous α-thalassemia-1. This represents a difference of only 0.3-0.4 mm, which is clinically insignificant. This finding indirectly suggests that the increased NT in trisomic fetuses cannot be explained by fetal anemia. Conversely, the presence of increased NT in a fetus at risk of homozygous α-thalassemia-1 should alert one to the possibility of chromosomal abnormality rather than being attributed to fetal anemia.