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1. Surface Rendering of External Genitalia of a Fetus at the 32nd Week of Gestation Affected by Partial Androgen Insensitivity Syndrome.

Author

Mazza, Vincenzo, Bertucci, Emma, Latella, Silvia, Cani, Carlotta, Ceccarelli, Pierluca, Iughetti, Lorenzo, Baldinotti, Fulvia, and Percesepe, Antonio

Subjects
*VULVA, *FETUS, *GESTATIONAL age, *ANDROGEN-insensitivity syndrome, *PRENATAL diagnosis, *KARYOTYPES, *ULTRASONIC imaging
Abstract

Objectives. To demonstrate the feasibility of the prenatal diagnosis of partial androgen insensitivity syndrome by 3D-4D ultrasound. Methods. To report prenatal diagnosis of partial androgen insensitivity syndrome at 32nd week of gestation by 3D-4D ultrasound in a fetus with a 46XY karyotype, testing negative to the mutation analysis of SRY gene and the 5ɑ-reductase 2 gene (SRD5A2). Results. 3D-4D surface rendering allows the detection of external and internal genital malformations and can address the prenatal diagnosis of PAIS and can exclude associated complications. Conclusions. Prenatal diagnosis of PAIS allows an adequate parental counseling and an early optimal management of the condition, not only for the psychological and social reflections but also for the avoidance of complications and postnatal morbidity due to misdiagnosis or delays in the treatment of the genital ambiguity [ABSTRACT FROM AUTHOR]

Published
2013
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2. Role of prenatal magnetic resonance imaging in fetuses with isolated mild or moderate ventriculomegaly in the era of neurosonography: international multicenter study

Author

Vincenzo Berghella, Giuseppe Maria Maruotti, Francesco Toni, Gabriella Bracalente, José Morales-Roselló, Ilaria Fantasia, Karen Melchiorre, Ginevra Salsi, Giovanni Scambia, Gabriella Meccariello, Lucia Manganaro, Marco Di Maurizio, Federico Prefumo, Pierluigi Benedetti Panici, Tamara Stampalija, Christoph Lees, Giuseppe Rizzo, Giada Ercolani, Gianluigi Pilu, Paolo Volpe, Francesco D'Antonio, Basky Thilaganathan, Asma Khalil, Tullio Ghi, Alessandra Familiari, Luisa D'Oria, Luigi Nappi, Roberto Brunelli, Claudio Celentano, Marco De Santis, Ilaria Giangiordano, Danilo Buca, S. Buongiorno, Francesca Ormitti, Tiziana Frusca, Giulia Masini, Fulvio Zullo, Nicola Volpe, Luciana Mastricci, Laura Sarno, Lorenzo Vasciaveo, Massimo Caulo, Lucia Pasquini, Valentina D'Ambrosio, Maria Elena Flacco, Giulia Luise, Lamberto Manzoli, Gabriele Saccone, Antonio Lanzone, Filomena Giulia Sileo, Emma Bertucci, Antonella Giancotti, Amanda Antonelli, Gabriela Loscalzo, Luigi Carbone, Massimo Gregori, Daniele Di Mascio, Claudiana Olivieri, Marco Liberati, Andrea Dall'Asta, Lorenzo Pinelli, Di Mascio D., Khalil A., Thilaganathan B., Rizzo G., Buca D., Liberati M., Celentano C., Melchiorre K., Caulo M., Pilu G., Salsi G., Toni F., Stampalija T., Fantasia I., Luise G., Gregori M., Volpe P., Olivieri C., Giancotti A., D'Ambrosio V., Brunelli R., Panici P.B., Manganaro L., Antonelli A., Ercolani G., Pasquini L., Masini G., Di Maurizio M., Lees C., Bracalente G., Morales-Rosello J., Loscalzo G., Saccone G., Carbone L., Sarno L., Maruotti G.M., Zullo F., Ghi T., Frusca T., Dall'Asta A., Volpe N., Ormitti F., Buongiorno S., De Santis M., D'Oria L., Lanzone A., Prefumo F., Pinelli L., Bertucci E., Sileo F.G., Flacco M.E., Manzoli L., Giangiordano I., Mastricci L., Meccariello G., Vasciaveo L., Nappi L., Familiari A., Scambia G., Berghella V., D'Antonio F., Di Mascio, Daniele, Khalil, Asma, Thilaganathan, Basky, Rizzo, Giuseppe, Buca, Danilo, Liberati, Marco, Celentano, Claudio, Melchiorre, Karen, Caulo, Massimo, Pilu, Gianluigi, Salsi, Ginevra, Toni, Francesco, Stampalija, Tamara, Fantasia, Ilaria, Luise, Giulia, Gregori, Massimo, Volpe, Paolo, Olivieri, Claudiana, Giancotti, Antonella, D'Ambrosio, Valentina, Brunelli, Roberto, Benedetti Panici, Pierluigi, Manganaro, Lucia, Antonelli, Amanda, Ercolani, Giada, Pasquini, Lucia, Masini, Giulia, Di Maurizio, Marco, Lees, Christoph, Bracalente, Gabriella, Morales‐roselló, José, Loscalzo, Gabriela, Saccone, Gabriele, Carbone, Luigi, Sarno, Laura, Maruotti, GIUSEPPE MARIA, Zullo, Fulvio, Ghi, Tullio, Frusca, Tiziana, Dall'Asta, Andrea, Volpe, Nicola, Ormitti, Francesca, Buongiorno, Silvia, De Santis, Marco, D'Oria, Luisa, Lanzone, Antonio, Prefumo, Federico, Pinelli, Lorenzo, Bertucci, Emma, Giulia Sileo, Filomena, Elena Flacco, Maria, Manzoli, Lamberto, Giangiordano, Ilaria, Mastricci, Luciana, Meccariello, Gabriella, Vasciaveo, Lorenzo, Nappi, Luigi, Familiari, Alessandra, Scambia, Giovanni, Berghella, Vincenzo, D'Antonio, Francesco, Mascio, Daniele Di, Panici, Pierluigi Benedetti, Maruotti, Giuseppe Maria, Sileo, Filomena Giulia, and Flacco, Maria Elena

Subjects
Fetal magnetic resonance imaging, central nervous system, fetal magnetic resonance imaging, fetal ultrasound, MRI, neurosonography, prenatal diagnosis, ventriculomegaly, Adult, Cohort Studies, Europe, Female, Gestational Age, Humans, Hydrocephalus, Predictive Value of Tests, Pregnancy, Retrospective Studies, Magnetic Resonance Imaging, Prenatal Diagnosis, medicine.medical_specialty, Socio-culturale, Fetal brain, 03 medical and health sciences, 0302 clinical medicine, medicine, Radiology, Nuclear Medicine and imaging, 030212 general & internal medicine, Fetus, prenatal diagnosi, 030219 obstetrics & reproductive medicine, Radiological and Ultrasound Technology, medicine.diagnostic_test, business.industry, Ultrasound, Obstetrics and Gynecology, Magnetic resonance imaging, General Medicine, medicine.disease, Settore MED/40 - GINECOLOGIA E OSTETRICIA, Reproductive Medicine, Multicenter study, embryonic structures, Radiology, business, Ventriculomegaly
Abstract

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. Copyright © 2020 ISUOG. Published by John Wiley & Sons Ltd.

Published
2020

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