9 research outputs found

    Role of prenatal magnetic resonance imaging in fetuses with isolated mild or moderate ventriculomegaly in the era of neurosonography: international multicenter study

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    Objectives To assess the role of fetal magnetic resonance imaging (MRI) in detecting associated anomalies in fetuses presenting with mild or moderate isolated ventriculomegaly (VM) undergoing multiplanar ultrasound evaluation of the fetal brain. Methods This was a multicenter, retrospective, cohort study involving 15 referral fetal medicine centers in Italy, the UK and Spain. Inclusion criteria were fetuses affected by isolated mild (ventricular atrial diameter, 10.0–11.9 mm) or moderate (ventricular atrial diameter, 12.0–14.9 mm) VM on ultrasound, defined as VM with normal karyotype and no other additional central nervous system (CNS) or extra‐CNS anomalies on ultrasound, undergoing detailed assessment of the fetal brain using a multiplanar approach as suggested by the International Society of Ultrasound in Obstetrics and Gynecology guidelines for the fetal neurosonogram, followed by fetal MRI. The primary outcome of the study was to report the incidence of additional CNS anomalies detected exclusively on prenatal MRI and missed on ultrasound, while the secondary aim was to estimate the incidence of additional anomalies detected exclusively after birth and missed on prenatal imaging (ultrasound and MRI). Subgroup analysis according to gestational age at MRI (< 24 vs ≥ 24 weeks), laterality of VM (unilateral vs bilateral) and severity of dilatation (mild vs moderate VM) were also performed. Results Five hundred and fifty‐six fetuses with a prenatal diagnosis of isolated mild or moderate VM on ultrasound were included in the analysis. Additional structural anomalies were detected on prenatal MRI and missed on ultrasound in 5.4% (95% CI, 3.8–7.6%) of cases. When considering the type of anomaly, supratentorial intracranial hemorrhage was detected on MRI in 26.7% of fetuses, while polymicrogyria and lissencephaly were detected in 20.0% and 13.3% of cases, respectively. Hypoplasia of the corpus callosum was detected on MRI in 6.7% of cases, while dysgenesis was detected in 3.3%. Fetuses with an associated anomaly detected only on MRI were more likely to have moderate than mild VM (60.0% vs 17.7%; P < 0.001), while there was no significant difference in the proportion of cases with bilateral VM between the two groups (P = 0.2). Logistic regression analysis showed that lower maternal body mass index (adjusted odds ratio (aOR), 0.85 (95% CI, 0.7–0.99); P = 0.030), the presence of moderate VM (aOR, 5.8 (95% CI, 2.6–13.4); P < 0.001) and gestational age at MRI ≥ 24 weeks (aOR, 4.1 (95% CI, 1.1–15.3); P = 0.038) were associated independently with the probability of detecting an associated anomaly on MRI. Associated anomalies were detected exclusively at birth and missed on prenatal imaging in 3.8% of cases. Conclusions The incidence of an associated fetal anomaly missed on ultrasound and detected only on fetal MRI in fetuses with isolated mild or moderate VM undergoing neurosonography is lower than that reported previously. The large majority of these anomalies are difficult to detect on ultrasound. The findings from this study support the practice of MRI assessment in every fetus with a prenatal diagnosis of VM, although parents can be reassured of the low risk of an associated anomaly when VM is isolated on neurosonography

    Prenatal diagnosis of Pfeiffer syndrome and role of three-dimensional ultrasound: case report and review of literature

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    Purpose/aim of the study: We report a rare case of autosomal dominant genetic syndrome "Pfeiffer", which is part of the group of acrocephalosyndactyly, with an annual incidence &lt;1/100,000. Three forms are known. Type I is the less common form and it is characterized by moderate-severe mediofacial hypoplasia usually with normal cognitive development. Conversely, types 2 and 3 are more common and they are associated with more severe signs and complications with a more unfavorable prognosis. The type 3 form due to the presence of a cloverleaf skull distinguishes type 2. Materials and methods: Thirty-eight-year-old primigravida was referred to our center, at 28 weeks of gestation due to borderline ventriculomegaly, macrocrania, and a short femur. First trimester screening for chromosomopathies and CF-DNA was low risk; II trimester screening ultrasound showed the presence of "short femur" and macrocrania. Result: Our ultrasound evaluation, assisted by 3D ultrasound, showed cloverleaf skull, turricephaly, moderate ventriculomegaly (13 mm), hypertelorism and exophthalmos, low ear implantation, mild rhizomelia. Ultrasound depicts Pfeiffer syndrome or other acrocephalosyndactyly syndromes (Apert syndromes, Saethre-Chotzen) or other syndromic forms of craniosynostosis like Crouzon syndrome. The NGS panel for molecular analysis of genes involved in skeletal dysplasias showed the mutation of the FGFR2 gene, de novo. Conclusions: Using three-dimensional (3D) ultrasound, it is easier to distinguish rare syndromes characterized by facial dysmorphisms such as exophthalmos, mediofacial hypoplasia, and craniosynostosis

    VBAC: antenatal predictors of success.

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    To determine antenatal factors that may predict successful vaginal birth after Caesarean section (VBAC), to develop a relevant antenatal scoring system and a nomogram for prediction of vaginal birth after caesarean delivery. A non recurring indication for previous Caesarean section (CS), such as breech presentation or foetal distress, is associated with a much higher successful VBAC rate than recurrent indications, such as cephalopelvic disproportion (CPD). Prior vaginal deliveries are excellent prognostic indicators of successful VBAC, especially if the vaginal delivery follows the prior CS. A low vertical uterine incision does not seem to adversely affect VBAC success rates as compared to a low transverse incision. Maternal obesity and diabetes mellitus adversely affect VBAC outcomes. Foetal macrosomia does not appear to be a contraindication to VBAC, as success rates exceeding 50% are achieved and uterine rupture rates are not increased. An interpregnancy interval of &lt;24 months is not associated with a decreased success of VBAC. Success rates decrease when interval increases. Twin gestation does not preclude VBAC. Post-dates pregnancies may deliver successfully by VBAC in greater than two-thirds of cases. There are few absolute contraindications to attempted VBAC. Attempted VBAC will be successful in the majority of attempted cases. (www.actabiomedica.it

    The Italian guidelines on ultrasound in obstetrics and gynecology: Executive summary of recommendations for practice

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    Recently the Italian Ministry of Health, through National Committee for the Clinical Excellence (CNEC), commissioned to different scientific societies a number of clinical guidelines, to be developed according to a standardized methodology [1]. The Italian Society of Ultrasound in Obstetrics and Gynecology (SIEOG), together with other Italian scien- tific societies (SIGO, AOGOI, AGUI, SIMP, Italian Society of Legal Medicine, SIDiP, SIRU), has produced guidelines on the use of ultra- sound in obstetrics and gynecology [2] following the Grading of Rec- ommendations, Assessment, Development and Evaluations (GRADE) methodology [3,4] and reported according to the Appraisal of Guide- lines for Research and Evaluation Instrument (AGREE II) [5

    Role of prenatal magnetic resonance imaging in fetuses with isolated severe ventriculomegaly at neurosonography: a multicenter study

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    none69siObjective: The aim of this study was to report the rate of additional anomalies detected exclusively at prenatal magnetic resonance imaging (MRI) in fetuses with isolated severe ventriculomegaly undergoing neurosonography. Method: Multicenter, retrospective, cohort study involving 20 referral fetal medicine centers in Italy, United Kingdom, Spain and Denmark. Inclusion criteria were fetuses affected by isolated severe ventriculomegaly (&gt; 15 mm), defined as ventriculomegaly with normal karyotype and no other additional central nervous system (CNS) and extra-CNS anomalies on ultrasound. In all cases, a multiplanar assessment of fetal brain as suggested by ISUOG guidelines on fetal neurosonography had been performed. The primary outcome was the rate of additional CNS anomalies detected exclusively at fetal MRI within two weeks from neurosonography. Subgroup analyses according to gestational age at MRI (&lt; vs 24 weeks of gestation) and the laterality of ventriculomegaly (unilateral vs bilateral) were also performed. Univariate and multivariate logistic regression analysis was used to analyze the data. Results: 187 fetuses with a prenatal diagnosis of isolated severe ventriculomegaly on neurosonography were included in the analysis. Additional structural anomalies were detected exclusively at prenatal MRI in 18.1% of cases. When considering the type of anomaly, malformations of cortical development were detected on MRI in 32.4% cases, while midline or acquired (hypoxemic/hemorrhagic) lesions were detected in 26.5% and 14.7% of cases, respectively. There was no difference in the rate of additional anomalies when stratifying the analysis according to either gestational age at MRI or laterality of the lesion. At multivariate logistic regression analysis, the presence of additional anomalies only found at MRI was significantly higher in bilateral compared versus unilateral ventriculomegaly (OR: 4.37, 95% CI 1.21-15.76; p= 0.04), while neither maternal body mass index, age, severity of ventricular dilatation, interval between ultrasound and MRI, nor gestational age at MRI were associated with the likelihood of detecting associated anomalies at MRI. Conclusion: The rate of associated anomalies detected exclusively at prenatal MRI in fetuses with isolated severe ventriculomegaly is lower than previously reported, but higher compared to isolated mild and moderate ventriculomegaly. Fetal MRI should be considered as a part of the prenatal assessment of fetuses presenting with isolated severe ventriculomegaly at neurosonography.openDi Mascio, Daniele; Khalil, Asma; Pilu, Gianluigi; Rizzo, Giuseppe; Caulo, Massimo; Liberati, Marco; Giancotti, Antonella; Lees, Christoph; Volpe, Paolo; Buca, Danilo; Oronzi, Ludovica; D'Amico, Alice; Tinari, Sara; Stampalija, Tamara; Fantasia, Ilaria; Pasquini, Lucia; Masini, Giulia; Brunelli, Roberto; D'Ambrosio, Valentina; Muzii, Ludovico; Manganaro, Lucia; Antonelli, Amanda; Ercolani, Giada; Ciulla, Sandra; Saccone, Gabriele; Maruotti, Giuseppe Maria; Carbone, Luigi; Zullo, Fulvio; Olivieri, Claudiana; Ghi, Tullio; Frusca, Tiziana; Dall'Asta, Andrea; Visentin, Silvia; Cosmi, Erich; Forlani, Francesco; Galindo, Alberto; Villalain, Cecilia; Herraiz, Ignacio; Sileo, Filomena Giulia; Quintero, Olivia Mendez; Salsi, Ginevra; Bracalente, Gabriella; Morales-Roselló, José; Loscalzo, Gabriela; Pellegrino, Marcella; De Santis, Marco; Lanzone, Antonio; Parazzini, Cecilia; Lanna, Mariano; Ormitti, Francesca; Toni, Francesco; Murru, Flora; Di Maurizio, Marco; Trincia, Elena; Garcia, Raquel; Petersen, Olav Bennike Bjørn; Neerup, Lisa; Sandager, Puk; Prefumo, Federico; Pinelli, Lorenzo; Mappa, Ilenia; Martellucci, Cecilia Acuti; Flacco, Maria Elena; Manzoli, Lamberto; Giangiordano, Ilaria; Nappi, Luigi; Scambia, Giovanni; Berghella, Vincenzo; D'Antonio, FrancescoDi Mascio, Daniele; Khalil, Asma; Pilu, Gianluigi; Rizzo, Giuseppe; Caulo, Massimo; Liberati, Marco; Giancotti, Antonella; Lees, Christoph; Volpe, Paolo; Buca, Danilo; Oronzi, Ludovica; D'Amico, Alice; Tinari, Sara; Stampalija, Tamara; Fantasia, Ilaria; Pasquini, Lucia; Masini, Giulia; Brunelli, Roberto; D'Ambrosio, Valentina; Muzii, Ludovico; Manganaro, Lucia; Antonelli, Amanda; Ercolani, Giada; Ciulla, Sandra; Saccone, Gabriele; Maruotti, Giuseppe Maria; Carbone, Luigi; Zullo, Fulvio; Olivieri, Claudiana; Ghi, Tullio; Frusca, Tiziana; Dall'Asta, Andrea; Visentin, Silvia; Cosmi, Erich; Forlani, Francesco; Galindo, Alberto; Villalain, Cecilia; Herraiz, Ignacio; Sileo, Filomena Giulia; Quintero, Olivia Mendez; Salsi, Ginevra; Bracalente, Gabriella; Morales-Roselló, José; Loscalzo, Gabriela; Pellegrino, Marcella; De Santis, Marco; Lanzone, Antonio; Parazzini, Cecilia; Lanna, Mariano; Ormitti, Francesca; Toni, Francesco; Murru, Flora; Di Maurizio, Marco; Trincia, Elena; Garcia, Raquel; Petersen, Olav Bennike Bjørn; Neerup, Lisa; Sandager, Puk; Prefumo, Federico; Pinelli, Lorenzo; Mappa, Ilenia; Martellucci, Cecilia Acuti; Flacco, Maria Elena; Manzoli, Lamberto; Giangiordano, Ilaria; Nappi, Luigi; Scambia, Giovanni; Berghella, Vincenzo; D'Antonio, Francesc
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