Retrospective study evaluating the performance of a first-trimester combined screening for trisomy 21 in an Italian unselected population.

OBJECTIVES: to assess the performance of a combined first-trimester screening for trisomy 21 in an unselected Italian population referred to a specialized private center for prenatal medicine. METHODS: a retrospective validation of first-trimester screening algorithms [risk calculation based on maternal age and nuchal translucency (NT) alone, maternal age and serum parameters (free ß-hCG and PAPP-A) alone and a combination of both] for fetal aneuploidies evaluated in an unselected Italian population at Artemisia Fetal-Maternal Medical Centre in Rome. All measurements were performed between 11(+0) and 13(+6) weeks of gestation, between April 2007 and December 2008. RESULTS: of 3,610 single fetuses included in the study, we had a complete follow-up on 2,984. Fourteen of 17 cases of trisomy 21 were detected when a cut-off of 1:300 was applied [detection rate (DR) 82.4%, 95% confidence interval (CI) 64.2-100; false-positive rate (FPR) 4.7%, 95% CI 3.9-5.4; false-negative rate (FNR) 17.6%, 95% CI 0-35.8%]. CONCLUSION: in our study population the detection rate for trisomy 21, using the combined risk calculation based on maternal age, fetal NT, maternal PAPP-A and free ß-hCG levels, was superior to the application of either parameter alone. The algorithm has been validated for first trimester screening in the Italian population.

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.

Antepartum haemorrhage.

OBJECTIVE: Antepartum haemorrhage (APH) defined as bleeding from the genital tract in the second half of pregnancy, remains a major cause of perinatal mortality and maternal morbidity in the developed world. RESULTS: In approximately half of all women presenting with APH, a diagnosis of placental abruption or placenta praevia will be made; no firm diagnosis will be made in the other half even after investigations. CONCLUSION: In cases presenting with APH, the evaluation consists of history, clinical signs and symptoms and once the mother is stabilized, a speculum examination and an ultrasound scan.A revision of the literature was mode only larger prospective tials or case-control study were taken into account.

Uterine artery Doppler flow studies in obstetric practice.

In women who develop preeclampsia there is a pathological increase in placental vascular resistance should be detectable by abnormal Dopplerf low studies of the maternal uterine vessels. In women considered at low risk with abnormal early pregnancy uterine artery Doppler studies are needed. Until such time as these are available, routine uterine artery Doppler screening of women considered at low risk is not recommended. Uterine artery Doppler screening of high-risk women appears to identify those at substantially increased risk for adverse pregnancy outcomes and interventions that might improve clinical outcomes.Abnormal testing in these women could potentially lead to increased surveillance and interventions that might improve clinical outcomes.

Reference interval for fetal biometry in Italian population.

OBJECTIVES: To validate new references charts and equations for fetal biometry in an Italian unselected population. METHODS: A cross-sectional study involving 4896 women with singleton viable pregnancies, at Artemisia Fetal Maternal Medical Centre between May 2009 and December 2009. Each woman was scanned only once, between 14+0 and 40+0 weeks of gestation. The fetal standard biometric measurements were recorded. For each parameter, regression models were fitted to estimate the percentile at each gestational age. In order to be compared to other reference equations, the fetal biometric measurements at each gestational age were expressed as Z-scores. RESULTS: New fetal charts and references equations for Italian population were developed according to the recommend multistep statistical procedure. CONCLUSION: To our knowledge this is the first Italian study with the largest sample size ever reported in the literature. In addiction, our newer charts of reference centiles for fetal biometric measurements are useful in the obstetrical clinical practice for the Italian population.

An isolated fetal cor triatriatum dexter during a targeted anatomic survey at 22 weeks' gestation.

OBJECTIVE: Cor triatriatum dexter is a rare cardiac malformation characterized by division of the right atrium into two compartments by a usually fenestrated membrane, whose degree of partitioning or septation is responsible for different clinical manifestations. METHODS: We report the first case of an isolated fetal cor triatriatum dexter that was diagnosed during ultrasound screening at 22 weeks of gestation. RESULTS: The sonographic examination of the fetal cardiac morphology revealed the presence of a membrane stretched between the medial and lateral walls of right atrium in the apical four-chamber view. Fetal morphology and biometric features were normal and appropriate for gestational age. CONCLUSION: This is the first report of an isolated fetal cor triatriatum dexter that was diagnosed during ultrasound screening at 22 weeks of gestation.