Congenital cytomegalovirus infection: the state of the art and future perspectives.

Congenital cytomegalovirus (cCMV) infection is the most common congenital infection, with an estimated incidence of approximately one in 200 infants in high-income settings. Approximately one in four children may experience life-long consequences, including sensorineural hearing loss and neurodisability. Knowledge regarding prevention, diagnosis, and treatment increased in the recent years, but some challenges remain. In this review, we tried to summarize the current knowledge on both the obstetrical and pediatric areas, while also highlighting controversial aspects and future perspectives. There is a need to enhance awareness among the general population and pregnant women through specific information programs. Further research is needed to better define the classification of individuals at birth and to have a deeper understanding of the long-term outcomes for so defined children. Finally, the availability of valaciclovir medication throughout pregnancy, where appropriate, has prompted the assessment of a universal serological antenatal screening. It is recommended to establish a dedicated unit for better evaluation and management of both mothers and children.

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.

Prevalence and characteristics of symptomatic and asymptomatic tuboovarian masses in women with HIV: an ultrasonographic study.

HIV-positive women with pelvic inflammatory disease have been reported to have an increased prevalence of tuboovarian masses (TOMs). The aim of this study was to assess the prevalence of asymptomatic ultrasonographic TOMs in women with HIV and to identify associated factors in order to formulate a selective ultrasonographic screening strategy. Two-hundred and four HIV outpatients underwent transvaginal ultrasonography. Eight (3.9%) had a diagnosis of TOM (5 were asymptomatic). Two profiles of patients at risk for TOM were identified who could be considered for selective screening strategies: the 'long-term infected' (age>35 years, diagnosis of HIV infection more than 5 years ago, HIV clinical category C, CD4 counts below 200/mm(3), >5 lifetime partners and on antiretroviral therapy) and the 'recently diagnosed with HIV' (African ethnicity, age 25-35, HIV diagnosis in the previous year, >5 lifetime partners, HIV clinical category C and not on antiretroviral therapy).

Fetal borderline cerebral ventriculomegaly: clinical significance and management.

AIM: The aim of this study was to evaluate the clinical significance and the management of fetal borderline lateral cerebral ventriculomegaly. METHODS: Fetuses with a sonographic diagnosis of lateral cerebral ventriculomegaly isolated or associated to other fetal malformations were followed monthly and a review of the English-language literature was made. RESULTS: Of 86 fetuses analyzed, 30 suffered from hydrocephaly (monolateral, bilateral), 56 showed also several other malformations . Chromosomal aberrations is possible also in case of isolated hydrocephaly. Neurological sequelae, mostly a mild to moderate delay in cognitive and/or motor development, is present in 10% of the cases. CONCLUSIONS: In most cases, isolated borderline lateral cerebral ventriculomegaly has no consequence. However, the risk of cerebral maldevelopment, delayed neurological development and, possibly, chromosomal aberrations is increased. The optimum management of these cases remains uncertain.

Prenatal diagnosis of placental chorioangioma: our experience.

Placental chorioangioma is the most common benign tumor of placenta. The relationship of vascularized chorioangiomas to adverse pregnancy outcome is well recognized. We report 3 cases of placental chorioangioma. Hypervascularization of the lesions in all patients and the immune hydrops with adverse fetal outcome in 2 cases are the complications of our mini-series. Ultrasonography and Doppler ultrasonography findings were useful in establishing the prenatal diagnosis and the prognosis.

Prenatal diagnosis of hemifacial microsomia and ipsilateral cerebellar hypoplasia in a fetus with oculoauriculovertebral spectrum.

Oculoauriculovertebral spectrum, or Goldenhar syndrome, is characterized by varying degrees of prevalently unilateral underdevelopment of craniofacial structures (orbit, ear, mandible) and spinal anomalies. We report the prenatal ultrasonographic diagnosis made at 24 weeks' gestation in a family with a negative history. The prenatal diagnosis was suspected due to the presence of marked hemifacial microsomia and moderate ipsilateral cerebellar hemisphere hypoplasia in the absence of facial clefting.

[Pentalogy of Cantrell: first trimester prenatal diagnosis and association with multicistic dysplastic kidney]. / Pentalogia di Cantrell: diagnosi prenatale nel primo trimestre ed associazione con la displasia renale multicistica.

Pentalogy of Cantrell is a rare congenital anomaly consisting of the following features: 1) midline supraumbilical abdominal wall defects; 2) deficiency of the anterior diaphragm; 3) defects in the diaphragmatic pericardium; 4) defects of the lower sternum; 5) congenital intracardiac defects. We report 3 cases of pentalogy of Cantrell diagnosed respectively at 13, 18 and 24 weeks of gestation. In case 1 Cantrell's pentalogy was diagnosed during the 1(st) trimester. Case 2 revealed the coexistence of cystic hygroma. Case 3 showed an association with dysplastic left kidney and mild pyelectasis of the right kidney. Our results confirm the possibility of an early detection of Cantrell's pentalogy and reveal the possibility of associations with other pathological findings.