19 results on '"Bertucci, Emma"'
Search Results
2. First-trimester prediction model for placental vascular disorders: An observational prospective study
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Monari, Francesca, Spano' Bascio, Ludovica, Banchelli, Federico, Neri, Isabella, Bertucci, Emma, Ferrari, Francesca, Menichini, Daniela, D'Amico, Roberto, and Facchinetti, Fabio
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- 2022
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3. Outcome of fetal congenital pulmonary malformations: a systematic review and meta-analysis.
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Sileo, Filomena Giulia, Alameddine, Sara, Iaccarino, Daniela Anna, Di Mascio, Daniele, Giuliani, Giulia Andrea, Bertucci, Emma, Khalil, Asma, and D'Antonio, Francesco
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MEDICAL information storage & retrieval systems ,PRENATAL diagnosis ,LUNGS ,PREGNANCY outcomes ,META-analysis ,DESCRIPTIVE statistics ,LUNG abnormalities ,SYSTEMATIC reviews ,MEDLINE ,MEDICAL databases ,ONLINE information services ,PREGNANCY complications ,FETUS - Abstract
To report the outcome of fetuses with a prenatal diagnosis of congenital lung malformation (CLM) diagnosed on ultrasound by performing a comprehensive assessment of these outcomes through a systematic review and meta-analysis. CLMs are a heterogeneous group of anomalies that involve the lung parenchyma and its bronchovascular structures. Their presentation and evolution are variable, from entirely asymptomatic lesions with sonographic regression in utero to hydropic fetuses requiring fetal therapy, intrauterine death or neonatal morbidity. A systematic review was conducted in Medline, Embase and Cochrane databases including studies on fetuses with CLM diagnosed prenatally in order to report the in-utero natural history of these lesions. Thirty-nine studies (2,638 fetuses) were included in the final review. Regression/reduction in size of the lung lesion during pregnancy was reported in 31 % of cases, while its increase in 8.5 % of cases. Intra-uterine death complicated 1.5 % of pregnancies with fetal CLM, while neonatal and perinatal death were 2.2 and 3 %, respectively. Neonatal morbidity occurred in 20.6 % of newborns with CLM; 46 % had surgery, mainly elective. In fetuses with CLM and hydrops, fetal/perinatal loss occurred in 42 %. Assessment of the role of fetal therapy in improving the outcomes of pregnancies complicated by CLM was hampered by the small number of included cases and heterogeneity of type of interventions. Fetuses with CLM prenatally diagnosed have a generally favorable outcome. Conversely, there is a low quality of evidence on the actual role of fetal therapy in improving the outcome of fetuses presenting with these anomalies. [ABSTRACT FROM AUTHOR]
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- 2024
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4. Isthmocele diagnosis: The optimal timing for detection.
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Bertucci, Emma, Sileo, Filomena Giulia, Longo, Maria, Tarozzi, Giulia, Benuzzi, Martina, and La Marca, Antonio
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MEDICAL sciences , *CESAREAN section , *DIAGNOSTIC ultrasonic imaging , *TRANSVAGINAL ultrasonography , *MENSTRUAL cycle , *UTERINE hemorrhage , *UTERINE rupture , *VAGINAL birth after cesarean , *HYSTEROSCOPY - Abstract
This article discusses the diagnosis of isthmocele, a uterine defect that occurs at the site of a previous cesarean section or other uterine surgeries. It affects up to 70% of women with a history of cesarean sections and can cause symptoms such as abnormal uterine bleeding and abdominal pain. Accurate diagnosis is important as isthmocele has been linked to complications in future pregnancies. Transvaginal ultrasonography is the primary diagnostic method, and the study suggests that performing the ultrasound during the secretive phase of the menstrual cycle provides clearer visualization of the isthmocele. Surgical correction can be done depending on the size of the defect. [Extracted from the article]
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- 2024
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5. Prenatal ultrasound signs of Aarskog‐Scott syndrome in a twin pregnancy: A case report.
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Bertucci, Emma, Giulini, Simone, Sighinolfi, Giovanna, Benuzzi, Martina, and Lugli, Licia
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MULTIPLE pregnancy , *FETOFETAL transfusion , *ULTRASONIC imaging , *SYNDROMES - Abstract
Synopsis: We describe the case of Aarskog‐Scott syndrome in a twin pregnancy with the prenatal finding of shortened fetal long bones. [ABSTRACT FROM AUTHOR]
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- 2024
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6. Role of fetal magnetic resonance imaging in fetuses with congenital cytomegalovirus infection: multicenter study
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Di Mascio, D., Rizzo, G., Khalil, A., D'Antonio, F., Di Mascio, Daniele, Rizzo, Giuseppe, Khalil, Asma, Giancotti, Antonella, Manganaro, Lucia, Visentin, Silvia, Cosmi, Erich, Prefumo, Federico, Stampalija, Tamara, D'Ambrosio, Valentina, Brunelli, Roberto, Liberati, Marco, Buca, Danilo, Matarrelli, Barbara, D'Amico, Alice, Oronzii, Ludovica, Tinari, Sara, Caulo, Massimo, Gentile, Luigia, Fantasia, Ilaria, Mappa, Ilenia, Maruotti, Giuseppe Maria, Saccone, Gabriele, Carbone, Luigi, Sarno, Laura, Bracalente, Gabriella, Bertucci, Emma, Sileo, Filomena Giulia, Pellegrino, Marcella, De Santis, Marco, Lanzone, Antonio, Pinelli, Lorenzo, Murru, Flora, Trincia, Elena, Pajno, Cristina, Sorrenti, Sara, Vasciaveo, Lorenzo, Nappi, Luigi, Greco, Pantaleo, D'Antonio, Francesco, Di Mascio, D., Rizzo, G., Khalil, A., D'Antonio, F., Di Mascio, Daniele, Rizzo, Giuseppe, Khalil, Asma, Giancotti, Antonella, Manganaro, Lucia, Visentin, Silvia, Cosmi, Erich, Prefumo, Federico, Stampalija, Tamara, D'Ambrosio, Valentina, Brunelli, Roberto, Liberati, Marco, Buca, Danilo, Matarrelli, Barbara, D'Amico, Alice, Oronzii, Ludovica, Tinari, Sara, Caulo, Massimo, Gentile, Luigia, Fantasia, Ilaria, Mappa, Ilenia, Maruotti, Giuseppe Maria, Saccone, Gabriele, Carbone, Luigi, Sarno, Laura, Bracalente, Gabriella, Bertucci, Emma, Sileo, Filomena Giulia, Pellegrino, Marcella, De Santis, Marco, Lanzone, Antonio, Pinelli, Lorenzo, Murru, Flora, Trincia, Elena, Pajno, Cristina, Sorrenti, Sara, Vasciaveo, Lorenzo, Nappi, Luigi, Greco, Pantaleo, and D'Antonio, Francesco
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Radiological and Ultrasound Technology ,CMV ,MRI ,cytomegalovirus ,hearing loss ,infection ,neurosonography ,ultrasound ,Obstetrics and Gynecology ,General Medicine ,Reproductive Medicine ,Settore MED/40 ,Radiology, Nuclear Medicine and imaging - Abstract
To investigate the role of fetal brain magnetic resonance imaging (MRI) in detecting associated anomalies in fetuses with congenital cytomegalovirus (CMV) infection and normal neurosonography.This was a multicenter, retrospective cohort study of patients examined between 2012 and 2021 in 11 referral fetal medicine centers in Italy. Inclusion criteria were fetuses with congenital CMV infection diagnosed by polymerase chain reaction analysis of amniotic fluid, pregnancies that underwent detailed multiplanar ultrasound assessment of the fetal brain as recommended by the International Society of Ultrasound in Obstetrics and Gynecology, maternal age ≥ 18 years, normal fetal karyotype and MRI performed within 3 weeks after the last ultrasound examination. The primary outcome was the rate of central nervous system (CNS) anomalies detected exclusively on MRI and confirmed after birth or autopsy in fetuses with a prenatal diagnosis of congenital CMV infection and normal neurosonography at diagnosis. Additional CNS anomalies were classified into anomalies of the ventricular and the periventricular zone, intracranial calcifications in the basal ganglia or germinal matrix, destructive encephalopathy in the white matter, malformations of cortical development, midline anomalies, posterior fossa anomalies and complex brain anomalies. We evaluated the relationship between the incidence of structural CNS malformations diagnosed exclusively on fetal MRI and a number of maternal and gestational characteristics. Univariate and multivariate logistic regression analyses were used to identify and adjust for potential independent predictors of the MRI diagnosis of fetal anomalies.The analysis included 95 fetuses with a prenatal diagnosis of congenital CMV infection and normal neurosonography referred for prenatal MRI. The rate of structural anomalies detected exclusively at fetal MRI was 10.5% (10/95). When considering the type of anomaly, malformations of cortical development were detected on MRI in 40.0% (4/10) of fetuses, destructive encephalopathy in 20.0% (2/10), intracranial calcifications in the germinal matrix in 10.0% (1/10) and complex CNS anomalies in 30.0% (3/10). On multivariate logistic regression analysis, only CMV viral load in the amniotic fluid, expressed as a continuous variable (odds ratio (OR), 1.16 (95% CI, 1.02-1.21); P = 0.02) or categorical variable ( 100 000 copies/mL) (OR, 12.0 (95% CI, 1.2-124.7); P = 0.04), was independently associated with the likelihood of detecting fetal anomalies on MRI. Associated anomalies were detected exclusively at birth and missed by both prenatal neurosonography and fetal MRI in 3.8% (3/80) of fetuses with congenital CMV infection.Fetal brain MRI can detect additional anomalies in a significant proportion of fetuses with congenital CMV infection and negative neurosonography. Viral load in the amniotic fluid was an independent predictor of the risk of associated anomalies in these fetuses. The findings of this study support a longitudinal evaluation using fetal MRI in congenital CMV infection, even in cases with negative neurosonography at diagnosis. © 2022 International Society of Ultrasound in Obstetrics and Gynecology.
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- 2023
7. Healthy preterm newborns: Altered innate immunity and impaired monocyte function.
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De Biasi, Sara, Neroni, Anita, Nasi, Milena, Lo Tartaro, Domenico, Borella, Rebecca, Gibellini, Lara, Lucaccioni, Laura, Bertucci, Emma, Lugli, Licia, Miselli, Francesca, Bedetti, Luca, Neri, Isabella, Ferrari, Fabrizio, Facchinetti, Fabio, Berardi, Alberto, and Cossarizza, Andrea
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NATURAL immunity ,NEWBORN infants ,KILLER cells ,NEONATAL infections ,DISEASE susceptibility - Abstract
Birth prior to 37 completed weeks of gestation is referred to as preterm (PT). Premature newborns are at increased risk of developing infections as neonatal immunity is a developing structure. Monocytes, which are key players after birth, activate inflammasomes. Investigations into the identification of innate immune profiles in premature compared to full‐term infants are limited. Our research includes the investigation of monocytes and NK cells, gene expression, and plasma cytokine levels to investigate any potential differences among a cohort of 68 healthy PT and full‐term infants. According to high‐dimensional flow cytometry, PT infants have higher proportions of CD56+/−CD16+NK cells and immature monocytes, and lower proportions of classical monocytes. Gene expression revealed lower proportions of inflammasome activation after in vitro monocyte stimulation and the quantification of plasma cytokine levels expressed higher concentrations of alarmin S100A8. Our findings suggest that PT newborns have altered innate immunity and monocyte functional impairment, and pro‐inflammatory plasmatic profile. This may explain PT infants' increased susceptibility to infectious disease and should pave the way for novel therapeutic strategies and clinical interventions. [ABSTRACT FROM AUTHOR]
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- 2023
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8. Perinatal and 2-year neurodevelopmental outcome in late preterm fetal compromise: the TRUFFLE 2 randomised trial protocol
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Mylrea-Foley, Bronacha, Thornton, Jim G, Mullins, Edward, Marlow, Neil, Hecher, Kurt, Ammari, Christina, Arabin, Birgit, Berger, Astrid, Bergman, Eva, Bhide, Amarnath, Bilardo, Caterina, Binder, Julia, Breeze, Andrew, Brodszki, Jana, Calda, Pavel, Cannings-John, Rebecca, Černý, Andrej, Cesari, Elena, Cetin, Irene, Dall'Asta, Andrea, Diemert, Anke, Ebbing, Cathrine, Eggebø, Torbjørn, Fantasia, Ilaria, Ferrazzi, Enrico, Frusca, Tiziana, Ghi, Tullio, Goodier, Jenny, Greimel, Patrick, Gyselaers, Wilfried, Hassan, Wassim, Von Kaisenberg, Constantin, Kholin, Alexey, Klaritsch, Philipp, Krofta, Ladislav, Lindgren, Peter, Lobmaier, Silvia, Marsal, Karel, Maruotti, Giuseppe M, Mecacci, Federico, Myklestad, Kirsti, Napolitano, Raffaele, Ostermayer, Eva, Papageorghiou, Aris, Potter, Claire, Prefumo, Federico, Raio, Luigi, Richter, Jute, Sande, Ragnar Kvie, Schlembach, Dietmar, Schleußner, Ekkehard, Stampalija, Tamara, Thilaganathan, Basky, Townson, Julia, Valensise, Herbert, Visser, Gerard Ha, Wee, Ling, Wolf, Hans, Lees, TRUFFLE 2 Collaborators List: Andrea Smith, Christoph C., Andrew, Sharp, Andy, Simm, Angela, Ramoni, Barry, Lloyd, Bianca, Masturzo, Christine, Morfeld, Christopher, Lloyd, Claudia, Seidig, Danielle, Thornton, Elena, Mantovani, Emanuela, Taricco, Bertucci, Emma, Erich, Cosmi, Eva, Ostermayer, Ferenc, Macsali, Ferrari, Francesca, Francesco, D'Antonio, Francesco, Picciotto, Gareth, Waring, Georgios, Rembouskos, Giuseppe, Cali, Giuseppe, Rizzo, Grazia Maria Tiralongo, Ilaria, Fantasia, Ilaria Giuditta Ramezzana, Ilenia, Mappa, Ioannis, Kyvernitakis, Iris, Derwig, Iris, Dressler-Steinbach, Jiří, Vojěch, Jørgen, Linde, Julia, Binder, Karen, Melchiorre, Kate, Walker, Kinga, Chalubinski, Kristiina, Rull, Kristina, Kernell, Lars, Brodowski, Laura, Sarno, Ligita, Jokibkiene, Liina, Rajasalu, Lina-Ana, Fryszer, Louisa, Jones, Magdalena, Bednarek-Jędrzejek, Makrina, Savvidou, Maria, Stefopoulou, Marianna, Rambaldi, Mark, Kilby, Nia, Jones, Nicola, Fratelli, Nishigandh, Deole, Patrick, Greimel, Petra, Pateisky, Pilar, Palmrich, Ralf, Schild, Roland, Devlieger, Sabina, Ondrová, Sarah, Gumpert, Sasha, Taylor, Saskia, Schmidt, Sebastian, Kwiatkowski, Serena, Caterina, Serena, Ottanelli, Serena, Simeone, Sergio, Ferrazzani, Silvia, Salvi, Silvia, Visentin, Sofia, Amylidi-Mohr, Spyros, Bakalis, Stefan, Verlohren, Susanne, Dargel, Sven, Kehl, Tanja, Groten, Tatjana, Radaelli, Tinne, Mesens, Tiziana, Fanelli, Torbjørn, Eggebø, Tullio, Ghi, Tuuli, Haabpiht, Wassim, Hassan, Yvonne, Heiman, Zulfiya, Khodzhaeva, Baskaran, Thilaganathan, Christoph, Brezinka, Sanne, Gordijn, Wessel, Ganzevoort, Abin Thomas Andrea Smith, Abin, Thomas, Mylrea-Foley, Bronacha, Thornton, Jim G, Mullins, Edward, Marlow, Neil, Hecher, Kurt, Ammari, Christina, Arabin, Birgit, Berger, Astrid, Bergman, Eva, Bhide, Amarnath, Bilardo, Caterina, Binder, Julia, Breeze, Andrew, Brodszki, Jana, Calda, Pavel, Cannings-John, Rebecca, Černý, Andrej, Cesari, Elena, Cetin, Irene, Dall'Asta, Andrea, Diemert, Anke, Ebbing, Cathrine, Eggebø, Torbjørn, Fantasia, Ilaria, Ferrazzi, Enrico, Frusca, Tiziana, Ghi, Tullio, Goodier, Jenny, Greimel, Patrick, Gyselaers, Wilfried, Hassan, Wassim, Von Kaisenberg, Constantin, Kholin, Alexey, Klaritsch, Philipp, Krofta, Ladislav, Lindgren, Peter, Lobmaier, Silvia, Marsal, Karel, Maruotti, Giuseppe M, Mecacci, Federico, Myklestad, Kirsti, Napolitano, Raffaele, Ostermayer, Eva, Papageorghiou, Ari, Potter, Claire, Prefumo, Federico, Raio, Luigi, Richter, Jute, Sande, Ragnar Kvie, Schlembach, Dietmar, Schleußner, Ekkehard, Stampalija, Tamara, Thilaganathan, Basky, Townson, Julia, Valensise, Herbert, Visser, Gerard Ha, Wee, Ling, Wolf, Han, Lees, Christoph C, Obstetrics and gynaecology, Amsterdam Reproduction & Development (AR&D), and National Institute for Health Research
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fetal medicine ,Cardiotocography ,PREDICTION ,610 Medicine & health ,Reproduktionsmedicin och gynekologi ,TRUFFLE 2 Collaborators List ,Ultrasonography, Prenatal ,1117 Public Health and Health Services ,Fetal ,Medicine, General & Internal ,AGE ,Heart Rate ,Pregnancy ,Obstetrics, Gynecology and Reproductive Medicine ,General & Internal Medicine ,GROWTH RESTRICTION ,Humans ,Prenatal ,Child ,Randomized Controlled Trials as Topic ,maternal medicine ,Obstetrics and gynaecology ,ultrasonography ,Science & Technology ,Fetal Growth Retardation ,Infant, Newborn ,Infant ,1103 Clinical Sciences ,General Medicine ,Heart Rate, Fetal ,Newborn ,ddc ,DOPPLER ,Fetal Weight ,Settore MED/40 ,Female ,Premature Birth ,Life Sciences & Biomedicine ,1199 Other Medical and Health Sciences ,Human - Abstract
IntroductionFollowing the detection of fetal growth restriction, there is no consensus about the criteria that should trigger delivery in the late preterm period. The consequences of inappropriate early or late delivery are potentially important yet practice varies widely around the world, with abnormal findings from fetal heart rate monitoring invariably leading to delivery. Indices derived from fetal cerebral Doppler examination may guide such decisions although there are few studies in this area. We propose a randomised, controlled trial to establish the optimum method of timing delivery between 32 weeks and 36 weeks 6 days of gestation. We hypothesise that delivery on evidence of cerebral blood flow redistribution reduces a composite of perinatal poor outcome, death and short-term hypoxia-related morbidity, with no worsening of neurodevelopmental outcome at 2 years.Methods and analysisWomen with non-anomalous singleton pregnancies 32+0 to 36+6 weeks of gestation in whom the estimated fetal weight or abdominal circumference is Ethics and disseminationThe Study Coordination Centre has obtained approval from London-Riverside Research Ethics Committee (REC) and Health Regulatory Authority (HRA). Publication will be in line with NIHR Open Access policy.Trial registration numberMain sponsor: Imperial College London, Reference: 19QC5491. Funders: NIHR HTA, Reference: 127 976. Study coordination centre: Imperial College Healthcare NHS Trust, Du Cane Road, London, W12 0HS with Centre for Trials Research, College of Biomedical & Life Sciences, Cardiff University. IRAS Project ID: 266 400. REC reference: 20/LO/0031. ISRCTN registry: 76 016 200.
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- 2022
9. How adenomyosis changes throughout pregnancy: A retrospective cohort study.
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Bertucci, Emma, Sileo, Filomena G., Diamanti, Marialaura, Alboni, Carlo, Facchinetti, Fabio, and La Marca, Antonio
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ENDOMETRIOSIS , *MANN Whitney U Test , *COHORT analysis , *MATERNAL age , *PREGNANCY - Abstract
Objective: To study how adenomyosis changes during pregnancy and to possibly correlate these changes to maternal and fetal outcomes. Methods: Retrospective exploratory cohort study including 254 women with a pre‐conceptional/first‐trimester scan to document adenomyosis and known obstetric outcome. If visible, adenomyosis signs were documented in each trimester and postpartum. Mann–Whitney U tests or χ2 tests were used for continuous and categorical variables, respectively. Results: A globular uterus was reported in 79% (n = 52) of women with adenomyosis in the first trimester, in 38% (n = 20) and 2% (n = 1) of women in the second and third trimesters, respectively, and postpartum in 77% (n = 34) of women. Asymmetrical thickening (n = 20, 30%) and cysts (n = 15, 23%) were only visible in 1st trimester. Adenomyosis was associated with miscarriage (odds ratio [OR] 5.9, 95% confidence interval [CI] 2.4–14.9, P < 0.001) also in normal conception only (OR 5.1, 95% CI 1.8–14.2, P = 0.002) or adjusting for maternal age (adjusted OR 5.9, 95% CI 2.3–15.2, P < 0.001). Gestational age at delivery was lower in adenomyosis (P = 0.004); the cesarean section rate was higher than in controls (OR 2.5, 95% CI 1.3–4.8, P = 0.007) also adjusting for age (adjusted OR 2.07, 95% CI 1.06–4.08, P = 0.035). Conclusions: Signs of adenomyosis were visible but progressively disappeared in pregnancy; adenomyosis was associated with an increased risk of early miscarriage. Prospective studies are needed to confirm our results. Synopsis: Sonographic signs of adenomyosis are visible in pregnancy although they progressively disappear; adenomyosis was associated with an increased risk of early miscarriage. [ABSTRACT FROM AUTHOR]
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- 2023
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10. Human Neuromuscular Junction on a Chip: Impact of Amniotic Fluid Stem Cell Extracellular Vesicles on Muscle Atrophy and NMJ Integrity.
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Gatti, Martina, Dittlau, Katarina Stoklund, Beretti, Francesca, Yedigaryan, Laura, Zavatti, Manuela, Cortelli, Pietro, Palumbo, Carla, Bertucci, Emma, Van Den Bosch, Ludo, Sampaolesi, Maurilio, and Maraldi, Tullia
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MUSCULAR atrophy ,MYONEURAL junction ,AMNIOTIC liquid ,EXTRACELLULAR vesicles ,STEM cells - Abstract
Neuromuscular junctions (NMJs) are specialized synapses, crucial for the communication between spinal motor neurons (MNs) and skeletal muscle. NMJs become vulnerable in degenerative diseases, such as muscle atrophy, where the crosstalk between the different cell populations fails, and the regenerative ability of the entire tissue is hampered. How skeletal muscle sends retrograde signals to MNs through NMJs represents an intriguing field of research, and the role of oxidative stress and its sources remain poorly understood. Recent works demonstrate the myofiber regeneration potential of stem cells, including amniotic fluid stem cells (AFSC), and secreted extracellular vesicles (EVs) as cell-free therapy. To study NMJ perturbations during muscle atrophy, we generated an MN/myotube co-culture system through Xona
TM microfluidic devices, and muscle atrophy was induced in vitro by Dexamethasone (Dexa). After atrophy induction, we treated muscle and MN compartments with AFSC-derived EVs (AFSC-EVs) to investigate their regenerative and anti-oxidative potential in counteracting NMJ alterations. We found that the presence of EVs reduced morphological and functional in vitro defects induced by Dexa. Interestingly, oxidative stress, occurring in atrophic myotubes and thus involving neurites as well, was prevented by EV treatment. Here, we provided and validated a fluidically isolated system represented by microfluidic devices for studying human MN and myotube interactions in healthy and Dexa-induced atrophic conditions—allowing the isolation of subcellular compartments for region-specific analyses—and demonstrated the efficacy of AFSC-EVs in counteracting NMJ perturbations. [ABSTRACT FROM AUTHOR]- Published
- 2023
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11. De novo variants and recombination at 4q35: Hints for preimplantation genetic testing in facioscapulohumeral muscular dystrophy.
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Pini, Sara, Napoli, Floriana Maria, Tagliafico, Enrico, La Marca, Antonio, Bertucci, Emma, Salsi, Valentina, and Tupler, Rossella
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FACIOSCAPULOHUMERAL muscular dystrophy ,GENETIC testing ,CHORIONIC villi ,DNA analysis - Abstract
Facioscapulohumeral muscular dystrophy (FSHD) has been associated with the deletion of an integral number of 3.3 kb units of the polymorphic D4Z4 repeat array at 4q35. The prenatal identification of this defect can be carried out on chorionic villi or amniocytes, whereas preimplantation genetic testing for monogenic disorders (PGT‐M) requires molecular markers linked to the D4Z4 allele of reduced size. In this context the reliability of this association is crucial. To test the informativeness of the nearby polymorphic markers we investigated recombination at 4q35 using the polymorphic markers D4S1523, D4S163 and D4S139 positioned at 0.55, 0.5 and 0.21 Mb proximal to the D4Z4 array respectively. We determined the probability of recombination events to occur in the D4Z4‐D4S1523 interval considering 86 subjects belonging to 12 FSHD families and found a recombination frequency of 14% between D4Z4 and D4S1523. Our study also revealed the occurrence of de novo variants and germline mosaicism. These findings highlight the recombinogenic nature of the 4q subtelomere and indicate that caution should be taken when interpreting PGT‐M results. It is advisable that a woman who underwent a PGT‐M cycle undertakes a prenatal DNA analysis to confirm the size of the D4Z4 alleles carried by the fetus. [ABSTRACT FROM AUTHOR]
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- 2023
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12. Effect of the Enrichment in c-Kit Stem Cell Potential of Foetal Human Amniotic Fluid Cells: Characterization from Single Cell Analysis to the Secretome Content.
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Casciaro, Francesca, Beretti, Francesca, Gatti, Martina, Persico, Giuseppe, Bertucci, Emma, Giorgio, Marco, and Maraldi, Tullia
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AMNIOTIC liquid ,C-kit protein ,STEM cells ,MULTIPOTENT stem cells ,CELL analysis - Abstract
Human amniotic fluid cells (hAFSCs) are a fascinating foetal cell-type that have important stem cell characteristics; however, they are a heterogeneous population that ranges from totally differentiated or progenitor cells to highly multipotent stem cells. There is no single approach to isolating the stem cell component, but the selection of a subpopulation of hAFSCs expressing c-Kit is widely employed, while a deep characterization of the two populations is still lacking. Here we performed single-cell and bulk RNAseq analysis to compare the gene expression profiles of adherent amniotic fluid cells and their subpopulation c-Kit
+ . Information deriving from this high throughput technology on the transcriptome was then confirmed for specific targets with protein expression experiments and functional analysis. In particular, transcriptome profiling identified changes in cellular distribution among the different clusters that correlated with significant differential expression in pathways related to stemness, proliferation, and cell cycle checkpoints. These differences were validated by RT-PCR, immunofluorescence, WB, and cell cycle assays. Interestingly, the two populations produced secretomes with different immune-modulating and pro-regenerative potentials. Indeed, the presence of TGFβ, HGF, IDO was higher in EVs deriving from c-Kit+ cells, unlike IL-6. These results suggest the existence of deep intra-population differences that can influence the stemness profile of hAFSCs. This study represents a proof-of-concept of the importance of selecting c-Kit positive fractions with higher potential in regenerative medicine applications. [ABSTRACT FROM AUTHOR]- Published
- 2023
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13. Fetal hepatic calcification in severe KAT6A (Arboleda-Tham) syndrome
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Di Caprio, Antonella, Rossi, Cecilia, Bertucci, Emma, Bedetti, Luca, Bertoncelli, Natascia, Miselli, Francesca, Corso, Lucia, Bondi, Carolina, Iughetti, Lorenzo, Berardi, Alberto, and Lugli, Licia
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- 2024
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14. Ultrasound screening for fetal anomalies in a single center: diagnostic performances twenty years after the Eurofetus Study.
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Sileo, Filomena G., Finarelli, Alessandra, Contu, Giannina, Lugli, Licia, Dipace, Vincenza, Ballarini, Michela, Guidi, Cristina, Facchinetti, Fabio, and Bertucci, Emma
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FETAL abnormalities ,FETAL ultrasonic imaging ,ABORTION ,HUMAN abnormalities ,PRENATAL diagnosis ,POSTMORTEM changes - Abstract
Purpose: To establish the accuracy of ultrasound in detecting fetal anomalies looking at the concordance between prenatal and postnatal diagnosis. Materials and methods: Retrospective analysis of concordance between prenatal and postnatal/autoptic diagnosis of fetuses with congenital abnormalities. Data are from a single center (Policlinico di Modena); all fetuses included were born between 2017 and 2018 and with a follow-up of at least 6 months. We included all deliveries (including perinatal deaths) and termination of pregnancy (TOP) for fetal indication. We calculated sensibility, sensitivity, Positive and Negative Likelihood Ratio, positive and negative predictive value of ultrasound. Results: During the study period 5920 deliveries, including perinatal deaths, and 28 TOP for fetal indication were registered at our center. The prevalence of congenital malformations was 2.6% (153/5920). At least one ultrasound was performed in our center in 1250 women delivering in our unit. All 28 TOP had the anomaly scan performed in our center. Among the total 1278 women scanned in our unit, there were 128 (10%) suspicious scans. In 5/128 (3.9%) cases we diagnosed a false alarm; in 8/128 (6.2%) cases an evolutive malformation with in-utero regression. The prenatal diagnosis was confirmed in 77 (60.2%) cases at birth and in 28/128 (21.9%) at postmortem analysis while there were 10/128 false positive (7.8%). Among the 153 congenital malformations diagnosed at birth, the anomaly scan was performed in our Prenatal Medicine Unit in 92 (60.1%) fetuses. Among these, there were 15 false negatives (9.8%) while in 77/92 (83.7%) the malformation at birth agreed with the sonographic diagnosis. Sensitivity and specificity of ultrasound were 87.5% (IC95 80.2-92.8%) and 99.1% (IC95 98.4-99.6%) respectively with a Positive Likelihood Ratio and Negative Likelihood Ratio of 101.3 (IC95 54.5-188.5) and 0.13 (IC95 0.08-0.2); Positive Predictive Value and Negative Predictive Value were 91.3% (IC95 85-95.1%) and 98.7(IC95 98-99.2%). Conclusion: Anomaly scan in pregnancy allows the diagnosis of congenital malformations with a sensibility of 87.5% and specificity of 99.1%. The main limitations of this study are its retrospective design and that it was conducted in a single referral center. [ABSTRACT FROM AUTHOR]
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- 2022
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15. Diagnostic performance of cerebroplacental and umbilicocerebral ratio in appropriate for gestational age and late growth restricted fetuses attempting vaginal delivery: a multicenter, retrospective study.
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Villalain, Cecilia, Galindo, Alberto, Di Mascio, Daniele, Buca, Danilo, Morales-Rosello, Jose, Loscalzo, Gabriela, Sileo, Filomena Giulia, Finarelli, Alessandra, Bertucci, Emma, Facchinetti, Fabio, Rizzo, Giuseppe, Brunelli, Roberto, Giancotti, Antonella, Muzii, Ludovico, Maruotti, Giuseppe Maria, Carbone, Luigi, D’Amico, Alice, Tinari, Sara, Morelli, Roberta, and Cerra, Chiara
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DELIVERY (Obstetrics) ,GESTATIONAL age ,FETAL development ,PLACENTAL growth factor ,NEONATAL intensive care units ,FETAL growth retardation - Abstract
Background Cerebroplacental Doppler studies have been advocated to predict the risk of adverse perinatal outcome (APO) irrespective of fetal weight. Objective To report the diagnostic performance of cerebroplacental (CPR) and umbilicocerebral (UCR) ratios in predicting APO in appropriate for gestational age (AGA) fetuses and in those affected by late fetal growth restriction (FGR) attempting vaginal delivery. Study design Multicenter, retrospective, nested case-control study between 1 January 2017 and January 2020 involving five referral centers in Italy and Spain. Singleton gestations with a scan between 36 and 40 weeks and within two weeks of attempting vaginal delivery were included. Fetal arterial Doppler and biometry were collected. The AGA group was defined as fetuses with an estimated fetal weight and abdominal circumference >10th and <90th percentile, while the late FGR group was defined by Delphi consensus criteria. The primary outcome was the prediction of a composite of perinatal adverse outcomes including either intrauterine death, Apgar score at 5 min <7, abnormal acid-base status (umbilical artery pH < 7.1 or base excess of more than −11) and neonatal intensive care unit (NICU) admission. Area under the curve (AUC) analysis was performed. Results 646 pregnancies (317 in the AGA group and 329 in the late FGR group) were included. APO were present in 12.6% AGA and 24.3% late FGR pregnancies, with an odds ratio of 2.22 (95% CI 1.46–3.37). The performance of CPR and UCR for predicting APO was poor in both AGA [AUC: 0.44 (0.39–0.51)] and late FGR fetuses [AUC: 0.56 (0.49–0.61)]. Conclusions CPR and UCR on their own are poor prognostic predictors of APO irrespective of fetal weight. [ABSTRACT FROM AUTHOR]
- Published
- 2022
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16. Implementation of guidelines about women with previous cesarean section through educational/motivational interventions.
- Author
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Monari, Francesca, Menichini, Daniela, Bertucci, Emma, Neri, Isabella, Perrone, Enrica, and Facchinetti, Fabio
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- 2022
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17. Complete hydatidiform mole in higher-order multiple pregnancies.
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SILEO, Filomena G., GIULIANI, Giulia A., FACCHINETTI, Fabio, CONTU, Giannina, CHIOSSI, Giuseppe, and BERTUCCI, Emma
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TWINS ,MOLAR pregnancy ,CHORIOCARCINOMA ,HYPERTHYROIDISM ,X-rays - Published
- 2022
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18. Counseling and prenatal diagnosis in facioscapulohumeral muscular dystrophy: A retrospective study on a 13‐year multidisciplinary approach.
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Di Feo, Maria Francesca, Bettio, Cinzia, Salsi, Valentina, Bertucci, Emma, and Tupler, Rossella
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FACIOSCAPULOHUMERAL muscular dystrophy ,PRENATAL diagnosis ,GENETIC counseling ,COUNSELING ,CHORIONIC villus sampling - Abstract
Background and Aims: This is the first national population‐based report about prenatal diagnosis for families with a history of facioscapulohumeral muscular dystrophy (FSHD), a complex hereditary disease. The incomplete disease penetrance and the phenotypic heterogeneity observed in carriers of D4Z4 alleles of reduced size, the FSHD molecular hallmark, make the estimate of genetic risk problematic. Methods: We considered all requests of preconception counseling and prenatal diagnosis received between January 2008 and December 2020 by the genetic counseling service associated with the Italian National Registry for FSHD (INRF). A multidisciplinary team managed the clinical and molecular data of each family. Results: Between 2008 and 2020, 60 couples required preconception counseling (PC) for FSHD. In 52 couples was observed at least one partner carried a D4Z4 reduced allele (DRA). Out of these 52 couples, 47 had a follow‐up visit routine yearly. Out of these 47, 26 (55.3%) couples had children: eight asked for prenatal diagnosis (PND), two had assisted reproduction by heterologous in vitro fertilization (IVF), and 16 did not require further assistance. Regarding PND, 50 prenatal analyses were performed for 36 couples. The test resulted positive in 27 pregnancies, 12 (44.4%) were terminated, and 15 (55.6%) were carried to term. Conclusion: The different choices made by the couples show the importance of an integrated approach to support genetic counseling for FSHD. These results remark the relevance of the clinical and molecular investigation of the extended family, preferably before conception. [ABSTRACT FROM AUTHOR]
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- 2022
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19. The appropriate counseling on prenatal screening test for foreign women in Emilia-Romagna.
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Menichini D, Sciutti G, Miano MV, Ricchi A, Infante R, Molinazzi MT, Bertucci E, Facchinetti F, and Neri I
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- Cross-Sectional Studies, Female, Humans, Pregnancy, Pregnant Women, Prenatal Diagnosis, Counseling, Midwifery
- Abstract
Objective: The increase in the migratory phenomenon entails the need to adapt obstetric care to the population which includes foreign pregnant women. In this context, it emerged a little adherence to the prenatal screening test among foreign women compared to Italian women, which is assumed to be attributable to an inadequate counseling. This study aims to evaluate midwife's perception of the counseling effectiveness in foreign women for the combined test and subsequently assess its adequacy through an external evaluation., Methods: this is a cross-sectional study conducted from September to November 2019. An ad hoc questionnaire was administered to midwives working in the territorial district of the Emilia-Romagna Region, investigating their counseling skills. Then an external evaluation of the counseling was conducted by observing the interview between the midwives and the patients (N = 10), to analyze its appropriateness., Results: Seventy-five midwives completed the questionnaire with a positive response rate of 57.2%. In general, 69.3% of midwives are satisfied with the training received from the regional course, but 85% found many difficulties in counseling foreign women. The 14% of midwives state that they always have the cultural and linguistic mediator available and 44% of them state that they use brochures translated into several foreign languages. In the interviews observed, the counseling to foreign women was found to be shorter and more limited than that provided to Italian women., Conclusions: Most of the consulting midwives declare that they feel prepared to perform a correct prenatal counseling also for foreign women, but the external evaluation of the interviews, and the regional data on adherence to the antenatal screening of foreign women, show many critical points. It becomes necessary to carry out further studies that investigate not only the counseling skills of midwives, but also the needs of assisted women about prenatal diagnosis.
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- 2021
- Full Text
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