The role of ultrasonography in the diagnosis of fetal isolated complete agenesis of the corpus callosum: a long-term prospective study.

OBJECTIVE: To evaluate the role of a dedicated neurosonographer in prenatal diagnosis of isolated complete agenesis of the corpus callosum (iCACC) and to asses the postnatal outcome of these infants. METHODS: Prospective study between January 2004 to December 2004 at Fetal Maternal Medical Centre 'Artemisia', Rome, Italy. A detailed ultrasound scan was performed in fetuses affected by iCACC by a dedicated fetal neurosonographer (CG). In all cases, magnetic resonance imaging (MRI) within 5 weeks and 13-15 months after birth was performed. A comparison was made between prenatal findings following the ultrasound scan and postnatal MRI. In these cases, a follow-up of 4-years was performed with a neurological evaluation. RESULTS: Among 23 cases of ACC diagnosed at our centre in the study period, CACC was diagnosed in 17 fetuses. Two were then excluded due to associated malformations, one was lost at follow-up and one patient opted to terminate her pregnancy. Newborn MRI confirmed the ultrasonographic diagnosis of iCACC in all 13 cases. A regular development was present in 92.3% of prenatally diagnosed iCACC. CONCLUSION: A dedicated neurosonographer could diagnose the iCACC with the same accuracy as MRI and in up to 90% of cases the newborn will have a regular development.

Two-dimensional fetal echocardiography: where we are.

Congenital Heart Disease (CHD) is the most common severe congenital abnormality in the newborn and the cause of over half the deaths from congenital anomalies in childhood. Prenatal diagnosis, possible as early as 15 weeks of gestation, allows physicians and families the greatest number of therapeutic options, and can improve the postnatal outcome. There are several potential indications for performing such examination. Evaluation of the heart in the setting of restricted fetal growth or fetal distress is often recommended. Whenever extracardiac anomalies are detected during fetal ultrasound examination or in presence of chromosomal abnormalities detected with amniocentesis, cardiac assessment is mandatory. The test should also be performed as part of the assessment of fetal arrhythmias. Finally, whenever congenital heart disease is suspected for other reasons, such as maternal exposure to teratogenic substances or a parental history of previous children with congenital lesions, the examination should be considered. The performance of a fetal echocardiogram requires experience and a systematic approach. Guidelines for training have been formulated, and only qualified individuals should perform this highly specialized examination. A description of the techniques of heart examination is presented below.

Prenatal screening of Cystic Fibrosis: a single centre experience.

OBJECTIVE: The gene responsible for the pathogenesis of cystic fibrosis has been known for over 15 years and represent the most common autosomal recessive disease in the european population. We aimed to investigate the incidence of this condition during fetal life. METHODS: In the past 10 years we examined in our centre 25393 fetuses of women underwent to amniocentesis. We carried out the examination of the most frequent mutations which enable, according to the literature data, the identification of almost 80% of the affected alleles. RESULT: We identified 922 heterozygous and 9 homozygous for the mutation. The frequency of heterozygousin the examined sample was 1/27,5 while that of the affected was 1/2821. CONCLUSION: We encourage new thoughts regarding the diagnostic validity of the most frequent panel of mutations among the italian population in order to exclude never encountered mutations and the insertion of other more significant mutations.