Prenatal diagnosis of β-thalassemia: nuchal translucency in affected fetuses.


AIM Thalassemia syndromes are a group of blood disorders inherited in autosomal recessive manner. Prenatal diagnosis of disease is based on invasive procedures. Fetuses affected by homozygous thalassemia are not reported to be anemic. We studied their nuchal translucency (NT) measurements to identify as an ultrasonographic marker of disease and highlight any correlations. METHODS Between April 2006 and July 2010 NT test was offered to women referred to our center for prenatal diagnosis of thalassemia. All the NT tests were performed in the time of chorionic villus sampling (CVS), according to the standards of the Fetal Medicine Foundation. Measurements of fetuses affected by homozygous thalassemia were compared with normal fetuses. RESULTS A total of 55 fetuses were recruited. Of these, 15 were confirmed to be affected by homozygous thalassemia and 40 resulted to be carriers of thalassemia trait. Neither abnormal karyotype or structural abnormalities were detected and all the NT measurement were normal. NT was not different between the affected and normal fetuses. CONCLUSION NT is not a marker of homozygous thalassemia in fetuses at risk. Invasive procedures remain the only available methods for diagnosis.

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@article{Fraja2011PrenatalDO, title={Prenatal diagnosis of β-thalassemia: nuchal translucency in affected fetuses.}, author={D Di Fraja and Laura Sarno and Annalisa Migliucci and Emma Acampora and Raffaele Napolitano and Giuseppe Maria Maruotti and Pasquale Martinelli}, journal={Minerva ginecologica}, year={2011}, volume={63 6}, pages={491-4} }