Prenatal diagnosis of congenital rubella infection and ultrasonography: a preliminary study.

AIM: The aim of this study was to analyze the role of ultrasonography in the prenatal diagnosis of women with confirmed rubella infection in pregnancy. METHODS: We performed a retrospective, population-based study on 175 women referred to our Centre of Infectious Disease in Pregnancy of AOU Federico II for rubella infection, in the period between January 1999 and December 2009. In confirmed cases of infection we performed periodic ultrasonographic assessment of fetal anatomy looking for prenatal findings of rubeovirus infection. Neonatal outcomes were collected. RESULTS: Among 175 women, 48 (27.4%) were confirmed cases, in 83 (47.4%) cases rubella infection remain suspected. The remaining 44 (25.1%) women were excluded to having rubella infection in pregnancy. No defined probable cases were found. Among children born to mother with confirmed rubella infection, 9 (18.7%) resulted infected by rubella virus. In particular 6 newborns (66% of the affected) were asymptomatic, two babies showed incomplete congenital rubella syndrome (CRS), due to the presence of deafness in the absence of other congenital abnormalities without showing any USG findings. Only one baby showed a complete CRS: USG prenatal rubella infection findings were IUGR, polydramnios, cardiomegaly, defects of atrial septum, hepatosplenomegaly, ascites, echogenic bowel, placentomegaly. USG specificity and sensitivity was 100% and 11% respectively. CONCLUSION: USG has an important role in the detection rubella intrauterine infection in case of severe abnormalities. The obstetricians should understand the limitations of ultrasound in detection of deafness and minor abnormalities.

Prenatal diagnosis of ß-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.