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A Journal on Obstetrics and Gynecology
Indexed/Abstracted in: EMBASE, PubMed/MEDLINE, Scopus, Emerging Sources Citation Index
Minerva Ginecologica 2011 December;63(6):491-4
Prenatal diagnosis of β-thalassemia: nuchal translucency in affected fetuses
Di Fraja D., Sarno L., Migliucci A., Acampora E., Napolitano R., Maruotti G. M., Martinelli P. ✉
Department of Gynecology and Obstetrics, High Risk Pregnancy Centre, University AOU “Federico II”, Naples, Italy
AIM:β-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 β-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 β-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 β-thalassemia were compared with normal fetuses.
RESULTS: A total of 55 fetuses were recruited. Of these, 15 were confirmed to be affected by homozygous β-thalassemia and 40 resulted to be carriers of β-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 β-thalassemia in fetuses at risk. Invasive procedures remain the only available methods for diagnosis.