45 results on '"Mazzarelli LL"'
Search Results
2. Espressione placentare di fattori della coagulazione in placente di gravidanze complicate da ipertensione
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MARUOTTI, GIUSEPPE MARIA, MARTINELLI, PASQUALE, GRANDONE E, AGANTI A, MAZZARELLI LL, QUAGLIA F, PECORAIO M, CHINNI E, COALIZZO D, Maruotti, GIUSEPPE MARIA, Grandone, E, Aganti, A, Mazzarelli, Ll, Quaglia, F, Pecoraio, M, Chinni, E, Coalizzo, D, and Martinelli, Pasquale
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- 2006
3. Prenatal diagnosis of hemifacial microsomia and ipsilateral cerebellar hypoplasia in a fetus with oculoauriculovertebral spectrum
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MARTINELLI, PASQUALE, BIFULCO, GIUSEPPE, PALADINI, DARIO, Maruotti GM, Agangi A, Mazzarelli LL, Martinelli, Pasquale, Maruotti, Gm, Agangi, A, Mazzarelli, Ll, Bifulco, Giuseppe, and Paladini, Dario
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Adult ,Fetal Diseases ,Goldenhar Syndrome ,Facial Asymmetry ,Pregnancy ,Cerebellum ,Humans ,Female ,Ultrasonography, Prenatal - Abstract
Oculoauriculovertebral spectrum, or Goldenhar syndrome, is characterized by varying degrees of prevalently unilateral underdevelopment of craniofacial structures (orbit, ear, mandible) and spinal anomalies. We report the prenatal ultrasonographic diagnosis made at 24 weeks' gestation in a family with a negative history. The prenatal diagnosis was suspected due to the presence of marked hemifacial microsomia and moderate ipsilateral cerebellar hemisphere hypoplasia in the absence of facial clefting.
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- 2004
4. Prenatal 2D and 3D ultrasound diagnosis of diprosopus: case report with post-mortem magnetic resonance images (MRI) and review of the literature
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Maruotti, GM, Paladini, D, Napolitano, R, Mazzarelli, LL, Russo, T, Quarantelli, M, D'Armiento, MR, and Martinelli, P
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No abstract available
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- 2009
5. La refertazione
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Niola Massimo, Di Lorenzo Pierpaolo, Claudia Casella, Di Meglio A, Casella C, Di Lorenzo P, Di Meglio L, Di Meglio L, Fontana P, Lonardo F, Mazzarelli LL, Niola M, Sica C, Lettieri A, Riccardi C, Ruffo G, Sica G, Toscano P, Battaglia V., Di Meglio Aniello, Niola, Massimo, DI LORENZO, Pierpaolo, and Casella, Claudia
- Published
- 2021
6. Il dubbio: riconoscimento o accuratezza diagnostica
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Niola Massimo, Di Lorenzo Pierpaolo, Claudia Casella, Di Meglio A, Casella C, Di Lorenzo P, Di Meglio L, Di Meglio L, Fontana P, Lonardo F, Mazzarelli LL, Niola M, Sica C, Lettieri A, Riccardi C, Ruffo G, Sica G, Toscano P, Battaglia V., Di Meglio A, Niola, Massimo, DI LORENZO, Pierpaolo, and Casella, Claudia
- Published
- 2021
7. Aspetti medico legali nella diagnostica ecografica di osteopatologia fetale
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Niola Massimo, Di Lorenzo Pierpaolo, Claudia Casella, Di Meglio A, Casella C, Di Lorenzo P, Di Meglio L, Di Meglio L, Fontana P, Lonardo F, Mazzarelli LL, Niola M, Sica C, Lettieri A, Riccardi C, Ruffo G, Sica G, Toscano P, Battaglia V., Aniello Di Meglio, Niola, Massimo, DI LORENZO, Pierpaolo, and Casella, Claudia
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- 2021
8. Absent ductus venosus: case series from two tertiary centres
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M. D. Pasquale Martinelli, Gabriele Saccone, Giuseppe Maria Maruotti, Vincenzo Berghella, L. L. Mazzarelli, M. D. Andrea Ciardulli, Maruotti, Gm, Saccone, G, Ciardulli, A, Mazzarelli, Ll, Berghella, V, and Martinelli, P
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Adult ,medicine.medical_specialty ,Vascular Malformations ,Tertiary Care Center ,Venous circulation ,Chromosome Disorders ,Prenatal diagnosis ,030204 cardiovascular system & hematology ,Ultrasonography, Prenatal ,Vascular anomaly ,Tertiary Care Centers ,03 medical and health sciences ,0302 clinical medicine ,Fetal Heart ,Pregnancy ,Retrospective Studie ,Humans ,Medicine ,Ductus venosus agenesi ,Abnormalities, Multiple ,Retrospective Studies ,Absent ductus venosus ,Fetus ,prenatal diagnosi ,030219 obstetrics & reproductive medicine ,Vascular Malformation ,business.industry ,Obstetrics ,Infant, Newborn ,Gestational age ,Obstetrics and Gynecology ,ultrasonography ,medicine.disease ,Chromosome Disorder ,Karyotyping ,Pediatrics, Perinatology and Child Health ,cardiovascular system ,Female ,business ,Ductus venosus ,Ductus Venosus Agenesis ,Human - Abstract
Introduction: Congenital absence of the ductus venosus (ADV) is a rare vascular anomaly often associated with fetal cardiac and extracardiac anomalies, aneuploidies, and hydrops. The prognosis depends on the patterns of abnormal venous circulation, on the associated malformations and on chromosomal aberrations.Methods: We performed a retrospective audit of all consecutive cases with ADV referred in our centres and analysed the outcomes.Results: A total of six cases with prenatally diagnosed ADV were identified. The gestational age at diagnosis ranged from 15 to 35 weeks. Karyotyping was performed in all cases. Normal karyotype was found in five out of the six cases. Overall, four neonates survived at 28 days follow-up. The other two died 48 h after delivery: both of them had extrahepatic ADV.Discussion: Absence of the ductus venosus may be compatible with normal fetal development without relevant disturbance of circulation and oxygenation independently from type of abnormal venous circulation.
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- 2018
9. Preeclampsia in women with chronic kidney disease
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A. Capuano, Laura Sarno, L. L. Mazzarelli, Pasquale Martinelli, F. Quaglia, Raffaele Napolitano, Angela Capone, Giuseppe Maria Maruotti, Maruotti, GIUSEPPE MARIA, Sarno, Laura, Napolitano, R, Mazzarelli, Ll, Quaglia, F, Capone, A, Capuano, A, and Martinelli, Pasquale
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Adult ,HELLP Syndrome ,medicine.medical_specialty ,Renal function ,Gestational Age ,Infant, Newborn, Diseases ,Preeclampsia ,Cohort Studies ,chemistry.chemical_compound ,Pre-Eclampsia ,Pregnancy ,Risk Factors ,medicine ,Birth Weight ,Humans ,Renal Insufficiency, Chronic ,reproductive and urinary physiology ,Gynecology ,Creatinine ,Obstetrics ,business.industry ,Incidence (epidemiology) ,Infant, Newborn ,Pregnancy Outcome ,Obstetrics and Gynecology ,Gestational age ,medicine.disease ,female genital diseases and pregnancy complications ,chemistry ,Pediatrics, Perinatology and Child Health ,Premature Birth ,Female ,business ,Kidney disease ,Cohort study - Abstract
Women with chronic kidney disease have an increased risk of developing preeclampsia and its severe complications. Currently, there are no assessments available in order to quantify such risk. The aim of the study is to establish the incidence of superimposed preeclampsia in women with chronic kidney disease according to Serum creatinine (SCr) level.Pregnant women with chronic kidney disease were retrospectively identified from January 2000 to July 2010. We defined two groups according to SCr: Group 1: SCr ≤ 125 µmol/l; Group 2: SCr125 µmol/l. Incidence of preeclampsia, early preeclampsia (delivery34 weeks), gestational age (GA) at diagnosis and delivery outcome were assessed.Ninety-three nephropatic women were considered for the analysis. Group 2 (n = 14) compared with Group 1 (n = 79) had an increased incidence of preeclampsia (78.6% vs. 25.3%; p0.0001), an increased rate of pregnancy complications as early preeclampsia (82% vs. 38%; p0.03), a lower GA at diagnosis (29 ± 2 vs. 33 ± 1 weeks; p0.04) and a lower GA at delivery (30 ± 2 weeks vs. 34 ± 1; p0.04).Women with chronic kidney disease and an increased creatinine threshold have a high risk of developing preeclampsia and delivering preterm.
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- 2012
10. Prenatal diagnosis of congenital rubella infection and ultrasonography: a preliminary study
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Migliucci A, Di Fraja D, Laura Sarno, Acampora E, Ll, Mazzarelli, Quaglia F, Mallia Milanes G, Buffolano W, Napolitano R, Simioli S, Gm, Maruotti, Martinelli P, Migliucci, A, Di Fraja, D, Sarno, Laura, Acampora, E, Mazzarelli, Ll, Quaglia, F, Mallia Milanes, G, Buffolano, W, Napolitano, R, Simioli, S, Maruotti, Gm, and Martinelli, Pasquale
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Pregnancy ,Rubella Syndrome, Congenital ,Humans ,Female ,Pregnancy Complications, Infectious ,Rubella ,Ultrasonography, Prenatal ,Retrospective Studies - Abstract
The aim of this study was to analyze the role of ultrasonography in the prenatal diagnosis of women with confirmed rubella infection in pregnancy.We performed a retrospective, population-based study on 175 women referred to our Centre of Infectious Disease in Pregnancy of AOU Federico II for rubella infection, in the period between January 1999 and December 2009. In confirmed cases of infection we performed periodic ultrasonographic assessment of fetal anatomy looking for prenatal findings of rubeovirus infection. Neonatal outcomes were collected.Among 175 women, 48 (27.4%) were confirmed cases, in 83 (47.4%) cases rubella infection remain suspected. The remaining 44 (25.1%) women were excluded to having rubella infection in pregnancy. No defined probable cases were found. Among children born to mother with confirmed rubella infection, 9 (18.7%) resulted infected by rubella virus. In particular 6 newborns (66% of the affected) were asymptomatic, two babies showed incomplete congenital rubella syndrome (CRS), due to the presence of deafness in the absence of other congenital abnormalities without showing any USG findings. Only one baby showed a complete CRS: USG prenatal rubella infection findings were IUGR, polydramnios, cardiomegaly, defects of atrial septum, hepatosplenomegaly, ascites, echogenic bowel, placentomegaly. USG specificity and sensitivity was 100% and 11% respectively.USG has an important role in the detection rubella intrauterine infection in case of severe abnormalities. The obstetricians should understand the limitations of ultrasound in detection of deafness and minor abnormalities.
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- 2011
11. Trisomy 18 caused by isochromosome 18p and 18q formation: Is there a milder phenotype?
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Raffaele Napolitano, Anna Conti, Floriana Fabbrini, L. L. Mazzarelli, Giuseppe Maria Maruotti, Giovanna Mallia Milanes, Rita Genesio, Pasquale Martinelli, Maruotti, Gm, Fabbrini, F, Napolitano, R, Genesio, R, Conti, A, Mallia Milanes, G, Mazzarelli, Ll, and Martinelli, Pasquale
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Genetics ,Adult ,business.industry ,Isochromosome ,Trisomy ,medicine.disease ,Phenotype ,Chromosome Banding ,Isochromosomes ,Text mining ,Fetus ,Prenatal Diagnosis ,Medicine ,Humans ,Female ,business ,Chromosomes, Human, Pair 18 ,Genetics (clinical) ,In Situ Hybridization, Fluorescence - Published
- 2009
12. Prenatal diagnosis of ulbright-hodes syndrome
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F. Quaglia, Giuseppe Maria Maruotti, Maria D'Armiento, Raffaele Napolitano, Ilma Floriana Carbone, A. Agangi, Pasquale Martinelli, L. L. Mazzarelli, Maruotti, Gm, Agangi, A, Napolitano, R, Mazzarelli, Ll, Quaglia, F, Carbone, If, D'Armiento, Maria, and Martinelli, Pasquale
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Pediatrics ,medicine.medical_specialty ,Pregnancy ,Radiological and Ultrasound Technology ,business.industry ,Limb reduction ,Limb Deformities, Congenital ,Prenatal diagnosis ,Syndrome ,medicine.disease ,Ulbright Hodes syndrome ,Renal dysplasia ,Ultrasonography, Prenatal ,Mesomelia ,medicine ,Humans ,Gestation ,Abnormalities, Multiple ,Female ,Kidney Diseases ,Radiology, Nuclear Medicine and imaging ,Differential diagnosis ,business - Abstract
lbright-Hodes syndrome, or limb reduction defects and renal dysplasia, is an unusual lethal congenital malformation that consists of mesomelia, radiohumeral fusion, and renal dysplasia. We report the successful prenatal diagnosis of the condition at 21 weeks’ gestation in a family with a negative history, which to our knowledge has not been reported previously. Sonographic findings, new and atypical features, the differential diagnosis, and counseling of the couple are reported.
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- 2009
13. Fetal borderline cerebral ventriculomegaly: clinical significance and management
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Simioli, S., Raffaele Napolitano, Quaglia, F., Mazzarelli, L. L., Agangi, A., Mallia Milanes, G., Tessitore, G., Iannaccone, A., Maruotti, G. M., Martinelli, P., Simioli, S, Napolitano, R, Quaglia, F, Mazzarelli, Ll, Agangi, A, Milanes, Gm, Tessitore, G, Iannaccone, A, Maruotti, Gm, and Martinelli, Pasquale
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Adult ,Pregnancy Trimester, Third ,Pregnancy Outcome ,Risk Assessment ,Severity of Illness Index ,Ultrasonography, Prenatal ,Cerebral Ventricles ,Predictive Value of Tests ,Pregnancy ,Lateral Ventricles ,Pregnancy Trimester, Second ,Prenatal Diagnosis ,Abortion, Legal ,Humans ,Abnormalities, Multiple ,Female ,Hydrocephalus ,Retrospective Studies - Abstract
The aim of this study was to evaluate the clinical significance and the management of fetal borderline lateral cerebral ventriculomegaly.Fetuses with a sonographic diagnosis of lateral cerebral ventriculomegaly isolated or associated to other fetal malformations were followed monthly and a review of the English-language literature was made.Of 86 fetuses analyzed, 30 suffered from hydrocephaly (monolateral, bilateral), 56 showed also several other malformations . Chromosomal aberrations is possible also in case of isolated hydrocephaly. Neurological sequelae, mostly a mild to moderate delay in cognitive and/or motor development, is present in 10% of the cases.In most cases, isolated borderline lateral cerebral ventriculomegaly has no consequence. However, the risk of cerebral maldevelopment, delayed neurological development and, possibly, chromosomal aberrations is increased. The optimum management of these cases remains uncertain.
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- 2009
14. Is uterine artery embolization for cervical ectopic pregnancy always safe?
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Giuseppe Maria Maruotti, A. Agangi, Rosamaria Oppedisano, Mario Quarantelli, L. L. Mazzarelli, Carmela Votino, Vittorio Iaccarino, Pasquale Martinelli, Martinelli, Pasquale, Maruotti, Gm, Oppedisano, R, Agangi, A, Mazzarelli, Ll, Votino, C, Quarantelli, M, and Iaccarino, Vittorio
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Adult ,medicine.medical_specialty ,medicine.medical_treatment ,Cervical pregnancy ,Cervix Uteri ,Hysterectomy ,Dilatation and Curettage ,Uterine artery embolization ,Obstetrics and gynaecology ,Pregnancy ,medicine ,Electrocoagulation ,Humans ,Embolization ,Ectopic pregnancy ,Obstetrics ,business.industry ,Uterus ,Obstetrics and Gynecology ,Myoma ,Arteries ,medicine.disease ,Embolization, Therapeutic ,Surgery ,Pregnancy, Ectopic ,Female ,business - Abstract
The study objective was to assess the feasibility and the efficacy of bilateral uterine artery embolization (BUAE) for the treatment of cervical pregnancy. The design was a series of 3 cases of viable cervical pregnancy diagnosed by transvaginal ultrasonography and treated by means of BUAE and subsequent uterine curettage. Three women with viable cervical pregnancy underwent BUAE and subsequent uterine curettage in the department of obstetrics and gynecology, High Risk Pregnancy Center, University "Federico II" of Naples. Measurements included surgical outcomes and preservation of fertility. The treatment was effective in all cases. Two patients resumed normal menstruation about 1 month after the procedure, whereas 1 patient underwent a hysterectomy 2 weeks after embolization because of acute ischemic degeneration of a concomitant myoma. The conservative management of cervical pregnancy with angiographic BUAE is a feasible and effective option, even if subsequent hysterectomy may be required. Counseling is necessary.
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- 2007
15. Prenatal diagnosis of placental chorioangioma: our experience
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Napolitano R, Giuseppe Maruotti, Ll, Mazzarelli, Quaglia F, Tessitore G, Pecoraro M, Agangi A, Mallia Milanes G, Martinelli P, Napolitano, R, Maruotti, Gm, Mazzarelli, Ll, Quaglia, F, Tessitore, G, Pecoraro, M, Agangi, A, Mallia Milanes, G, and Martinelli, Pasquale
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Adult ,Placenta Diseases ,Pregnancy ,Humans ,Female ,Hemangioma ,Ultrasonography, Prenatal - Abstract
Placental chorioangioma is the most common benign tumor of placenta. The relationship of vascularized chorioangiomas to adverse pregnancy outcome is well recognized. We report 3 cases of placental chorioangioma. Hypervascularization of the lesions in all patients and the immune hydrops with adverse fetal outcome in 2 cases are the complications of our mini-series. Ultrasonography and Doppler ultrasonography findings were useful in establishing the prenatal diagnosis and the prognosis.
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- 2005
16. Prenatal diagnosis of arthrogryposis
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Mallia Milanes G, Napolitano R, Quaglia F, Ll, Mazzarelli, Agangi A, Tessitore G, Sansone M, Simioli S, Giuseppe Maruotti, Martinelli P, Mallia Milanes, G, Napolitano, R, Quaglia, F, Mazzarelli, Ll, Agangi, A, Tessitore, G, Sansone, M, Simioli, S, Maruotti, Gm, and Martinelli, Pasquale
17. Desensitization therapy in pregnant women with syphilis reporting allergy to penicillin: A case series.
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Carlea A, Angelino A, Mazzarelli LL, Maruotti GM, Fulgione C, Orlandi G, Donadono V, Spadaro G, Guida M, and Sarno L
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Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.
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- 2024
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18. A systematic review of prenatally diagnosed vein of Galen malformations: prenatal predictive markers and management from fetal life to childhood.
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Di Meglio L, Sica G, Toscano P, Orlandi G, Manzo L, Mazzarelli LL, Sica C, and Di Meglio A
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Introduction: Vein of Galen malformations (VGMs) account for less than 1% of all intracranial vascular malformations. However, in fetal and pediatric populations, they represent the most common vascular malformation of the brain. For the effective management of this condition, an optimal knowledge of its prenatal and postnatal clinical features is mandatory., Methods: Articles published between 1 January 2003 and 31 January 2024, reported in PubMed and EMBASE, were evaluated for a systematic review analyzing the prenatal and postnatal features and management of fetal VGMs., Results: Thirty-one papers reporting information on 51 prenatally diagnosed VGMs were included. The most common prenatal features were fetal hydrocephalus (39%) and cardiomegaly (56%). Postnatal data for 43 VGM cases are described. The overall mortality was 58.14%. In total, 77.78% of the survivors had normal development., Conclusions: Close follow-up and a multidisciplinary approach are mandatory to manage this condition. Our study aimed to provide a guide for gynecologists, neonatologists, cardiologists, and neuroradiologists., Competing Interests: CS, LLM, and ADM are employed at Diagnositica Ecografia e Prenatale di A. Di Meglio, Naples, Italy. ADM is the Scientific Director of the center. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (© 2024 Di Meglio, Sica, Toscano, Orlandi, Manzo, Mazzarelli, Sica and Di Meglio.)
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- 2024
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19. Early prenatal diagnosis of a recurrent case of short-rib thoracic dysplasia 3 due to compound heterozygosity for variations in the DYNC2H1 gene: an "ultrasound first" approach.
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Fontana P, Agolini E, Cocciadiferro D, Mazzarelli LL, Di Meglio A, Novelli A, Scarano G, Lombardi C, Ciavarella M, and Lonardo F
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- Pregnancy, Female, Humans, Prenatal Diagnosis, Ultrasonography, Ribs, Ultrasonography, Prenatal, Cytoplasmic Dyneins genetics, Short Rib-Polydactyly Syndrome diagnosis, Short Rib-Polydactyly Syndrome genetics, Osteochondrodysplasias diagnostic imaging, Osteochondrodysplasias genetics
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Short-rib thoracic dysplasia 3 with or without polydactyly (OMIM # 613091) represents a clinical spectrum encompassing a heterogeneous group of skeletal dysplasias associated with homozygous or compound heterozygous mutations of DYNC2H1. We describe the case of a couple with two consecutive therapeutic abortions due to a diagnosis of short-rib thoracic dysplasia mutations. In the first pregnancy, the diagnosis has been made at 21 weeks. In the second one, an accurate and early ultrasound examination allowed a diagnosis at 12 weeks. DYNC2H1 mutations were confirmed in both cases. In this report, we underline the importance of an ultrasound evaluation at the end of the first trimester of pregnancy in the detection of early signs of skeletal dysplasias. An early prenatal diagnosis of a short-rib skeletal dysplasia, such as for other severe skeletal dysplasias, is critical to offer a couple the chance of a weighted, informed, and less traumatic decision about the continuation of the pregnancy.
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- 2023
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20. The unpredictable clinical course of an abdominal cyst diagnosed in the prenatal period: A case report.
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Sica C, Orlandi G, Schiattarella A, Sica G, Toscano P, Lettieri A, Gabrielli O, Manzo L, Mazzarelli LL, Di Meglio L, Di Meglio L, Gulino FA, Incognito GG, Tuscano A, Ieno L, Palumbo M, Guida M, and Di Meglio A
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Enteric duplication cysts are rare congenital malformations of the gastrointestinal tract. Prenatal diagnosis can be achieved through ultrasound, which may reveal a cystic mass, though the differential diagnosis is broad. We report a case in which the prenatal ultrasound detection of an abdominal cystic mass prompted postnatal magnetic resonance imaging, leading to the diagnosis of an enteric duplication cyst. At 6 weeks of age, the infant developed an obstruction of the small bowel, requiring urgent surgical intervention. This case underscores the difficulties in differentiating abdominal cysts prenatally. Thorough prenatal and neonatal follow-up is crucial, and postnatal magnetic resonance imaging is sometimes essential for accurate diagnosis. The clinical course can be unpredictable, and complications that may arise could necessitate urgent surgical treatment., (© 2023 The Authors.)
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- 2023
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21. Congenital cytomegalovirus infection: the state of the art and future perspectives.
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Salomè S, Corrado FR, Mazzarelli LL, Maruotti GM, Capasso L, Blazquez-Gamero D, and Raimondi F
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Congenital cytomegalovirus (cCMV) infection is the most common congenital infection, with an estimated incidence of approximately one in 200 infants in high-income settings. Approximately one in four children may experience life-long consequences, including sensorineural hearing loss and neurodisability. Knowledge regarding prevention, diagnosis, and treatment increased in the recent years, but some challenges remain. In this review, we tried to summarize the current knowledge on both the obstetrical and pediatric areas, while also highlighting controversial aspects and future perspectives. There is a need to enhance awareness among the general population and pregnant women through specific information programs. Further research is needed to better define the classification of individuals at birth and to have a deeper understanding of the long-term outcomes for so defined children. Finally, the availability of valaciclovir medication throughout pregnancy, where appropriate, has prompted the assessment of a universal serological antenatal screening. It is recommended to establish a dedicated unit for better evaluation and management of both mothers and children., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The authors declared that they were an editorial board member of Frontiers, at the time of submission. This had no impact on the peer review process and the final decision., (© 2023 Salomè, Corrado, Mazzarelli, Maruotti, Capasso, Blazquez-Gamero and Raimondi.)
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- 2023
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22. Treatment with valacyclovir during pregnancy for prevention of congenital cytomegalovirus infection: a real-life multicenter Italian observational study.
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Zammarchi L, Tomasoni LR, Liuzzi G, Simonazzi G, Dionisi C, Mazzarelli LL, Seidenari A, Maruotti GM, Ornaghi S, Castelli F, Abbate I, Bordi L, Mazzotta S, Fusco P, Torti C, Calò Carducci FI, Baccini M, Modi G, Galli L, Lilleri D, Furione M, Zavattoni M, Ricciardi A, Arossa A, Vimercati A, Lovatti S, Salomè S, Raimondi F, Sarno L, Sforza A, Fichera A, Caforio L, Trotta M, and Lazzarotto T
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Background: Valacyclovir is the only treatment demonstrated to be effective for the prevention of vertical transmission of cytomegalovirus within a clinical randomized, placebo-controlled trial and has been reimbursed by the Italian National Health System since December 2020., Objective: This study reported the results of a real-life Italian multicenter observational study on cytomegalovirus infection in pregnancy evaluating the effect of the introduction of valacyclovir in the clinical practice for the prevention of vertical transmission of cytomegalovirus., Study Design: The outcomes of women who received valacyclovir treatment and their fetuses or newborns were compared with those of a retrospective cohort observed between 2010 and 2020 who did not receive the antiviral treatment. The inclusion criterion was the diagnosis of cytomegalovirus primary infection occurring in the periconceptional period or up to 24 weeks of gestation. The primary outcome was the transmission by the time of amniocentesis. The secondary outcomes were termination of pregnancy, transmission at birth, symptomatic infection at birth, and a composite outcome (termination of pregnancy or transmission at birth)., Results: A total of 447 pregnant women from 10 centers were enrolled, 205 women treated with valacyclovir (called the valacyclovir group, including 1 twin pregnancy) and 242 women not treated with valacyclovir (called the no-valacyclovir group, including 2 twin pregnancies). Valacyclovir treatment was significantly associated with a reduction of the diagnosis of congenital cytomegalovirus infection by the time of amniocentesis (weighted odds ratio, 0.39; 90% confidence interval, 0.22-0.68; P=.005; relative reduction of 61%), termination of pregnancy (weighted odds ratio, 0.36; 90% confidence interval, 0.17-0.75; P=.0021; relative reduction of 64%), symptomatic congenital cytomegalovirus infection at birth (weighted odds ratio, 0.17; 90% confidence interval, 0.06-0.49; P=.006; relative reduction of 83%). The treatment had no significant effect on the rate of diagnosis of congenital cytomegalovirus infection at birth (weighted odds ratio, 0.85; 90% confidence interval, 0.57-1.26; P=.500), but the composite outcome (termination of pregnancy or diagnosis of congenital cytomegalovirus infection at birth) occurred more frequently in the no-valacyclovir group (weighted odds ratio, 0.62; 90% confidence interval, 0.44-0.88; P=.024). Of note, the only symptomatic newborns with congenital cytomegalovirus infection in the valacyclovir group (n=3) were among those with positive amniocentesis. Moreover, 19 women (9.3%) reported an adverse reaction to valacyclovir treatment, classified as mild in 17 cases and moderate in 2 cases. Lastly, 4 women (1.9%) presented renal toxicity with a slight increase in creatinine level, which was reversible after treatment suspension., Conclusion: Our real-life data confirm that valacyclovir significantly reduces the rate of congenital cytomegalovirus diagnosis at the time of amniocentesis with a good tolerability profile and show that the treatment is associated with a reduction of termination of pregnancy and symptomatic congenital cytomegalovirus infection at birth., (Copyright © 2023 The Author(s). Published by Elsevier Inc. All rights reserved.)
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- 2023
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23. Ectrodactyly-ectodermal dysplasia-clefting syndrome. Prenatal prospective ultrasound diagnosis.
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Orlandi G, Di Girolamo R, Carbone L, Sarno L, Maresca A, Fulgione C, Mazzarelli LL, D'antonio F, Mappa I, Pietrolucci ME, Rizzo G, and Maruotti GM
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Objective: Prenatal diagnosis of the Ectrodactyly-Ectodermal dysplasia-clefting (EEC) syndrome has been based upon the detection of ectrodactyly, in association with facial clefting and/or positive family history. Our aim is to describe other ultrasonographic features indicating the presuntive diagnosis, regardless of genetic diagnosis, especially in cases of negative family history., Materials and Methods: A case report and a review of the literature was assessed., Results: Our case report showed a singleton foetus "lobster claw" deformities of hands and feet. Paternal history revealed bilateral agenesia of two fingers. Through literature, 15 case reports of prenatal diagnosis of EEC syndrome were found, 14 of which were eligible for our systematic review. The 33% of cases (5/15) had a familiar history of EEC, thus, we found one case of consanguinity of parents. Anomalies EEC-related were recognized in the 40% of cases (6/15). An association with genitourinary anomalies was found in 30% (5/15) of them., Conclusions: A strong suspicion of final diagnosis of EEC may be done in the presence of ectrodactyly, facial clefting and urinary malformation especially in cases of negative family history. More attention should be given to a genetic counseling, especially to understand a possible relation to other genetic syndromes., (© 2023 Wiley Periodicals LLC.)
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- 2023
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24. Fetal Cerebellar Area: Ultrasound Reference Ranges at 13-39 Weeks of Gestation.
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Manzo L, Orlandi G, Gabrielli O, Toscano P, Di Lella E, Lettieri A, Mazzarelli LL, Sica G, Di Meglio L, Di Meglio L, Ruffo G, Sica C, Gulino FA, Incognito GG, Tuscano A, Giorno A, and Di Meglio A
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Background and Objectives: The present study aims to provide prenatal 2-dimensional ultrasonographic (2D-US) nomograms of the normal cerebellar area., Materials and Methods: This is a prospective cross-sectional analysis of 252 normal singleton pregnancies, ranging from 13 to 39 weeks of gestation. The operator performed measurements of the fetal cerebellar area in the transverse plane using 2D-US. The relationship between cerebellar area and gestational age (GA) was determined through regression equations., Results: A significant, strong positive correlation was investigated between the cerebellar area with GA (r-value = 0.89), and a positive correlation indicates that with increasing GA, the cerebellar area increased in all the participants of the study. Several 2D-US nomograms of the normal cerebellar area were provided, and an increase of 0.4% in the cerebellar area each week of GA was reported., Conclusions: We presented information on the typical dimensions of the fetal cerebellar area throughout gestation. In future studies, it could be evaluated how the cerebellar area changes with cerebellar abnormalities. It should be established if calculating the cerebellar area in addition to the routine transverse cerebellar diameter may help in discriminating posterior fossa anomalies or even help to identify anomalies that would otherwise remain undetected.
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- 2023
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25. Prenatal Diagnosis of an Intrathoracic Left Kidney Associated with Congenital Diaphragmatic Hernia: Case Report and Systematic Review.
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Orlandi G, Toscano P, Gabrielli O, Di Lella E, Lettieri A, Manzo L, Mazzarelli LL, Sica C, Di Meglio L, Di Meglio L, Gulino FA, Incognito GG, Tuscano A, Cianci S, and Di Meglio A
- Abstract
Introduction: A congenital intrathoracic kidney (ITK) is a rare anomaly that is recognized to have four causes: renal ectopia with an intact diaphragm, diaphragmatic eventration, diaphragmatic hernia, and traumatic diaphragmatic rupture. We report a case of a prenatal-diagnosed ITK related to a congenital diaphragmatic hernia (CDH) and conducted a systematic review of all cases of the prenatal diagnosis of this association., Case Presentation: A fetal ultrasound scan at 22 gestational weeks showed left CDH and ITK, hyperechoic left lung parenchyma, and mediastinal shift. The fetal echocardiography and karyotype were normal. Magnetic resonance imaging at 30 gestational weeks confirmed the ultrasound suspicion of left CDH in association with bowel and left kidney herniation. The fetal growth, amniotic fluid, and Doppler indices remained within the normal range over time. The woman delivered the newborn via an at-term spontaneous vaginal delivery. The newborn was stabilized and underwent non-urgent surgical correction; the postoperative course was uneventful., Conclusions: CDH is the rarest cause of ITK; we found only eleven cases describing this association. The mean gestational age at diagnosis was 29 ± 4 weeks and 4 days. There were seven cases of right and four cases of left CDH. There were associated anomalies in only three fetuses. All women delivered live babies, the herniated kidneys showed no functional damage after their surgical correction, and the prognosis was favorable after surgical repair. The prenatal diagnosis and counseling of this condition are important in planning adequate prenatal and postnatal management in order to improve neonatal outcomes.
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- 2023
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26. Congenital syphilis in the twenty-first century: an area-based study.
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Salomè S, Cambriglia MD, Scarano SM, Capone E, Betts I, Pacella D, Sansone M, Mazzarelli LL, Lo Vecchio A, Ranucci G, Marinosci GZ, Capasso L, Salvatore P, and Raimondi F
- Subjects
- Pregnancy, Infant, Female, Child, Infant, Newborn, Humans, Retrospective Studies, Mothers, Syphilis, Congenital diagnosis, Syphilis, Congenital epidemiology, Syphilis, Congenital prevention & control, Syphilis diagnosis, Syphilis epidemiology, Syphilis drug therapy, Pregnancy Complications, Infectious diagnosis, Pregnancy Complications, Infectious epidemiology, Pregnancy Complications, Infectious drug therapy
- Abstract
The resurgence of syphilis and subsequent risk for newborns has been described worldwide; however, European data on this congenital infection is lacking. We report the activity of a multidisciplinary specialized unit assisting a large area in the Southern Italy. A retrospective cohort study has been conducted at the Perinatal and Pediatric Infectious Diseases Units of the Federico II University of Naples, enrolling all newborns and children referred from January 2010 to June 2022 exposed to Treponema pallidum in utero and/or congenitally infected. A total of 323 patients were included in the analysis. Twenty (6.2%) received a diagnosis of confirmed congenital syphilis (CS) and one died. Fifteen CS cases had typical clinical features. Since 2017, the number of referred neonates tripled while the rate of late maternal diagnoses did not significantly differ. When compared with mothers of exposed infants, mothers of CS cases were younger (25 ± 7.2 vs 29.9 ± 6 years, p = 0.041), had less previous pregnancies (0.64 vs 1.11, p = 0.044), and received a diagnosis of syphilis at a later stage of pregnancy (86% vs 20%, from third trimester or later on; p < 0.001). Appropriate maternal therapy was protective against vertical transmission (- 1.2; - 1.4, - 1 95% CI; p < 0.001). Paternal syphilis status was known in 36% of cases., Conclusion: CS has still a significant impact. Prevention should be implemented towards specific maternal risk profiles. A specialized unit is the preferable model to improve surveillance and healthcare for this neglected population., What Is Known: • The resurgence of syphilis and subsequent risk for newborns has been described worldwide. • European data on this congenital infection is lacking., What Is New: • Congenital syphilis has a significant impact still in Europe and prevention should be implemented towards specific maternal risk profiles. • A specialized unit is the preferable model to improve surveillance and healthcare for this neglected population., (© 2022. The Author(s).)
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- 2023
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27. Bleeding epulis gravidarum: what to evaluate?
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Iorio GG, Carbone L, Donadono V, Rovetto MY, Sarno L, Saccone G, Mazzarelli LL, Sirico A, Esposito G, Buonfantino C, DI Girolamo R, Arduino B, D'Alessandro P, and Maruotti GM
- Subjects
- Cesarean Section adverse effects, Female, Hemorrhage, Humans, Infant, Newborn, Pain, Pregnancy, Gingival Diseases, Pregnancy, Triplet
- Abstract
Introduction: Hormonal changes during pregnancy may induce modifications in oral mucosa. Epulis gravidarum (EG) is an oral disease arising during pregnancy, usually regressing after delivery. A case of EG managed at our department is described and those previously reported in literature are reviewed in order to define EG clinical features for stratifying the risk of complications and the need of surgery during pregnancy as well as which factors should be considered more relevant in EG management., Evidence Acquisition: Electronic databases (Medline, Embase, Web of Sciences, Scopus and Cochrane Library) were searched from inception of each databases until May 2021 to identify clinical studies on management of EG diagnosed during pregnancy. The aim of this review was to identify factors influencing the need and timing of surgical management., Evidence Synthesis: A woman with a triplet pregnancy suffering from EG, complicated by profuse bleeding, required Caesarean section (CS) given the triplet pregnancy and the impending preterm labor. The surgical removal of EG was not performed because it spontaneously regressed without consequences 40 days after delivery. Review analysis indicated that EG clinical management is dependent on types of symptoms and their severity. Multilinear regression analysis showed that operative management strategy was associated with bone loss on X-ray (t=4.23, P=0.003), while EG surgical treatment during pregnancy was associated with pain (t=-2.91, P=0.03). No significant differences were found in management strategy, according to pain (P=0.12), interference with mastication (P=0.98) and speech (P=0.36). A poor oral hygiene was described in 71% of patients as hypothetical trigger., Conclusions: EG management strategy depends on bleeding, pain and bone loss on X-ray. A multidisciplinary approach is useful to perform a rapid and appropriate diagnosis and to better evaluate pros and cons of surgery during pregnancy and following management.
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- 2022
- Full Text
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28. Association between lymphadenopathy after toxoplasmosis seroconversion in pregnancy and risk of congenital infection.
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Donadono V, Saccone G, Sarno L, Esposito G, Mazzarelli LL, Sirico A, Guida M, Martinelli P, Zullo F, and Maruotti GM
- Subjects
- Adult, Female, Humans, Infant, Infant, Newborn, Infant, Newborn, Diseases parasitology, Infectious Disease Transmission, Vertical, Lymphadenopathy diagnosis, Lymphadenopathy parasitology, Male, Pregnancy, Pregnancy Complications, Infectious diagnosis, Pregnancy Complications, Infectious parasitology, Pregnancy Outcome, Prenatal Exposure Delayed Effects parasitology, Retrospective Studies, Seroconversion, Toxoplasmosis diagnosis, Toxoplasmosis parasitology, Toxoplasmosis transmission, Toxoplasmosis, Congenital parasitology, Young Adult, Antibodies, Protozoan blood, Infant, Newborn, Diseases diagnosis, Lymphadenopathy blood, Pregnancy Complications, Infectious blood, Prenatal Exposure Delayed Effects diagnosis, Toxoplasmosis blood, Toxoplasmosis, Congenital diagnosis
- Abstract
The aim of the study was to describe the pregnancy outcome of a large cohort of women with toxoplasmosis seroconversion in pregnancy and to investigate the relation between maternal lymphadenopathy and risk of congenital toxoplasmosis (CT). This was a retrospective study involving women with confirmed toxoplasmosis seroconversion in pregnancy between 2001 and 2017. Women were clinically evaluated for lymphadenopathy and classified as follows: lymphadenopathy absent (L-) or lymphadenopathy present (L+). The mothers were treated and followed-up according to local protocol, and neonates were monitored at least for 1 year in order to diagnose CT. A total of 218 women (one twin pregnancy) were included in the analysis. Pregnancy outcome was as follows: 149 (68%) of children not infected, 62 (28.3%) infected, 4 (1.8%) first trimester termination of pregnancy, 2 (0.9%) first trimester miscarriages, and 3 (1.4%) stillbirths (of which one already counted in the infected cohort). 13.8% of women were L+ , and they were nearly three times more likely to have a child with CT compared to L- women (aOR, 2.90; 95%CI, 1.28-6.58). Moreover, the result was still statistically significant when the analysis was restricted to 81 children whose mothers were clinically examined and received treatment within 5 weeks from estimated time of infection. In conclusion, there is a positive association between L+ status in pregnant women, and risk of CT also confirmed when restricting the analysis to women with early diagnosis of seroconversion and treatment. This data could be very useful in counselling pregnant women with toxoplasmosis seroconversion and lead to direct a more specific therapeutic and diagnostic protocol., (© 2021. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)
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- 2022
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29. Prenatal diagnosis of a novel pathogenic variation in the ACAN gene presenting with isolated shortening of fetal long bones in the second trimester of gestation: a case report.
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Toscano P, Di Meglio L, Lonardo F, Di Meglio L, Mazzarelli LL, Sica C, and Di Meglio A
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- Adult, Amniocentesis, Female, Fetal Growth Retardation genetics, Fetus, Humans, Pregnancy, Ultrasonography, Prenatal, Aggrecans, Bone Diseases, Developmental genetics, Mutation genetics, Pregnancy Trimester, Second, Prenatal Diagnosis
- Abstract
Background: Heterozygous mutations of the ACAN gene are a major cause of different evolutive growth defects in the pediatric population, but were never described as a cause of fetal skeletal dysplasia., Case Presentation: A G1 at 21w + 3d came to our institution for the second-trimester ultrasound and a skeletal dysplasia with prevalent involvement of limb's rhizomelic tracts was suspected. Amniocentesis followed by CGH-array was performed, with normal results. An examination by NGS of some genes associated with skeletal dysplasias showed a novel pathogenic variant of the ACAN gene: c.2677delG., Conclusion: Sequence variations of ACAN were never described as a possible cause of fetal skeletal anomalies to date. In this case report, we describe the first prenatal diagnosis of skeletal dysplasia associated with a pathogenic variant of ACAN.
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- 2021
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30. Prenatal ultrasound diagnosis of duplication gallbladder: a multicenter study.
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Di Meglio L, Toscano P, Saccone G, Di Meglio L, Mazzarelli LL, Zullo F, Raffone A, Travaglino A, Locci M, and Di Meglio A
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- Adult, Female, Gallbladder diagnostic imaging, Humans, Pregnancy, Retrospective Studies, Gallbladder abnormalities, Gallbladder Diseases diagnostic imaging, Prenatal Diagnosis methods, Ultrasonography, Prenatal methods
- Abstract
Background: Gallbladder duplication is a rare anatomic anomaly characterized by the presence of an accessory gallbladder., Objective: To appraise the prevalence and significance of prenatal diagnosis of duplication of gallbladder in a multicenter study., Methods: This was a multicenter case series with literature review. Clinical records of all consecutive pregnant women with a prenatal diagnosis of duplication of gallbladder, who were referred to our Centers were included in this study. The diagnosis of duplication of gallbladder was based on the evidence of double gallbladder in the standard abdominal circumference plane using grey scale. Postnatal magnetic resonance cholangiopancreatography (MRCP) 3D and postnatal neonatal abdominal ultrasound scan were offered soon after birth to confirm the diagnosis of double gallbladder. The systematic review was conducted using electronic databases from inception of each database through December 2019., Results: Five studies, including a total of seven cases, were identified as relevant and included in the systematic review. Gestational age at diagnosis ranged from 20 to 32 weeks of gestation. Associated findings were reported in only one case, where the fetus presented with a left-sided gallbladder, and bilateral renal agenesis with Potter sequence. None of the included cases reported abnormal karyotype. Our cases series included nine cases (0.03%) of double gallbladder with postnatal confirmation, with an overall incidence of this anomaly of 0.03%.Associated findings were reported in only two cases, one with IUGR and omphalocele, that opted for I-TOP, and one with single umbilical artery. Except for the I-TOP, neonatal outcome was favorable in all cases., Conclusions: Duplication of the gallbladder is a very rare malformation with only seven cases reported in the literature diagnosed prenatally. This anomaly is not associated with abnormal karyotype, and the neonatal outcome is favorable if there are no other associated abnormalities.
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- 2020
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31. Incidence of toxoplasmosis in pregnancy in Campania: A population-based study on screening, treatment, and outcome.
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Donadono V, Saccone G, Maruotti GM, Berghella V, Migliorini S, Esposito G, Sirico A, Tagliaferri S, Ward A, Mazzarelli LL, Sarno L, Agangi A, Quaglia F, Zullo F, and Martinelli P
- Subjects
- Adult, Female, Humans, Incidence, Infant, Newborn, Italy epidemiology, Mass Screening, Neonatal Screening, Pregnancy, Pregnancy Outcome, Seroconversion, Toxoplasmosis, Congenital epidemiology, Infectious Disease Transmission, Vertical, Pregnancy Complications, Infectious epidemiology, Toxoplasmosis epidemiology
- Abstract
Introduction: The aim of this study was to evaluate the incidence of toxoplasmosis infection during pregnancy and to describe the characteristics of the serological status, management, follow-up and treatment., Material and Methods: This is a population-based cohort study of women referred for suspected toxoplasmosis during pregnancy from January, 2001 to December, 2012. Suspected toxoplasmosis was defined as positive IgM antibody during pregnancy. Women with suspected toxoplasmosis during pregnancy were classified into three groups: seroconversion, suspected infection, or no infection in pregnancy. Women in the first and second group were treated according to local protocol, and amniocentesis with toxoplasmosis PCR detection and serial detailed ultrasound scans were offered. Neonates were investigated for congenital toxoplasmosis at birth and were monitored for at least one year after birth., Results: During the study period, there were 738,588 deliveries in Campania. Of them 1159 (0.2%) were referred to our Institution for suspected toxoplasmosis during pregnancy: 183 (15.8%) women were classified as seroconversion, 381 (32.9%) were suspected infection, and 595 (51.3%) were not infected in pregnancy. Neonatal outcome was available for 476 pregnancies, including 479 neonates (3 twins, 473 singletons), out of the 564 pregnancies with seroconversion or suspected infection. 384 (80.2%) babies were not infected at birth and at follow-up, 67 (14.0%) had congenital toxoplasmosis, 10 (2.1%) were voluntary induced termination of pregnancy, 15 (3.1%) were spontaneous miscarriage, and 4 (0.8%) were stillbirth (of which one counted already in the infected cohort). Considering cases of congenital toxoplasmosis, the transmission rate in women with seroconversion was 32.9% (52/158), and in women with suspected infection was 4.7% (15/321)., Conclusions: Toxoplasmosis is uncommon in pregnancy with overall incidence of seroconversion and suspected infection in pregnancy of 0.8 per 1000 live births and incidence of congenital toxoplasmosis 0.1 per 1000 live births when applying a strict protocol of screening, follow-up, and treatment. 51.3% (595/1159) of women referred to our center for suspected infection were actually considered not infected., (Copyright © 2019. Published by Elsevier B.V.)
- Published
- 2019
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32. Absent ductus venosus: case series from two tertiary centres.
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Maruotti GM, Saccone G, Ciardulli A, Mazzarelli LL, Berghella V, and Martinelli P
- Subjects
- Abnormalities, Multiple diagnosis, Abnormalities, Multiple epidemiology, Adult, Chromosome Disorders diagnosis, Chromosome Disorders epidemiology, Female, Fetal Heart diagnostic imaging, Humans, Infant, Newborn, Karyotyping, Pregnancy, Retrospective Studies, Tertiary Care Centers statistics & numerical data, Ultrasonography, Prenatal, Fetal Heart abnormalities, Vascular Malformations diagnosis, Vascular Malformations epidemiology
- Abstract
Introduction: Congenital absence of the ductus venosus (ADV) is a rare vascular anomaly often associated with fetal cardiac and extracardiac anomalies, aneuploidies, and hydrops. The prognosis depends on the patterns of abnormal venous circulation, on the associated malformations and on chromosomal aberrations., Methods: We performed a retrospective audit of all consecutive cases with ADV referred in our centres and analysed the outcomes., Results: A total of six cases with prenatally diagnosed ADV were identified. The gestational age at diagnosis ranged from 15 to 35 weeks. Karyotyping was performed in all cases. Normal karyotype was found in five out of the six cases. Overall, four neonates survived at 28 days follow-up. The other two died 48 h after delivery: both of them had extrahepatic ADV., Discussion: Absence of the ductus venosus may be compatible with normal fetal development without relevant disturbance of circulation and oxygenation independently from type of abnormal venous circulation.
- Published
- 2018
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33. Pregnancy outcome in proteinuria-onset and hypertension-onset preeclampsia.
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Sarno L, Maruotti GM, Saccone G, Sirico A, Mazzarelli LL, and Martinelli P
- Subjects
- Adult, Female, Humans, Infant, Newborn, Male, Pregnancy, Pregnancy Outcome, Prognosis, Retrospective Studies, Risk Factors, Time Factors, Hypertension, Pregnancy-Induced diagnosis, Pre-Eclampsia diagnosis, Proteinuria diagnosis
- Abstract
Objective: To evaluate pregnancy outcome in preeclampsia (PE), according to the timing of onset of proteinuria and hypertension., Methods: Preeclamptic women were retrospectively divided into proteinuria-onset and hypertension-onset PE according to the first symptom. Maternal and perinatal outcome were assessed in both the groups., Results: One hundred and ninety five single pregnancies complicated by PE were included. According to the first symptom, they were divided into two groups: proteinuria-onset PE (n = 49, 25.1%) and hypertension-onset PE (n = 146, 74.9%). Pregnancy and neonatal outcome was significantly worse in proteinuria-onset PE., Conclusion: Proteinuria-onset PE is associated with an increased risk of adverse pregnancy outcome than hypertension-onset PE.
- Published
- 2015
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34. Congenital megaurethra in a fetus with Meckel syndrome and in a fetus with female pseudoermanphroditism. The first report of these occurrences.
- Author
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Di Meglio L, Mazzarelli LL, Boscaino A, Cancemi D, Morelli F, Lonardo MC, Lonardo V, Friso P, Spampanato C, Urciuoli M, Ventruto M, and Ventruto V
- Abstract
Objective: the purpose of this paper is to report the first case of megaurethra in a fetus with Meckel syndrome and in a fetus with femal pseudoermaphroditism., Results: the former case refers to a fetus of 13 weeks gestation with the three following prominent anomalies, observed by transonic scan and confirmed by autopsy: congenital megaurethra, anal atresia, single umbelical artery. The latter case refers to a fetus of 18 weeks gestation. Autopsy confirmed penile malformation and revealed ovaries in the abdomen. The karyotype was 46,XX with normal molecular karytype. The megaurethra was discovered by sonography at 18 weeks gestation. Autopsy confirmed penile malformation and revealed ovaries in the abdomen. The karyotype was 46,XX with normal molecular karyotype (Array-CGH, 1 Mb of resolution)., Methods: transonic scan, autopsy, karyotype, array-CGH., Conclusions: the first prenatal cases of two genetic syndromes with megaurethra have been reported, concening respectively a fetus with Meckel syndrome and a fetus with femal pseudoermaphroditism. The latter was confirmed by both autopsy and the normal female 46,XX karyotype.
- Published
- 2014
35. Anesthetic management of a parturient with spinal muscular atrophy type II.
- Author
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Maruotti GM, Anfora R, Scanni E, Rispoli M, Mazzarelli LL, Napolitano R, Morlando M, Sarno L, Milanes GM, Simioli S, Migliucci A, Martinelli P, and Mastronardi P
- Subjects
- Adult, Female, Humans, Magnetic Resonance Imaging, Pregnancy, Treatment Outcome, Anesthesia, Obstetrical methods, Anesthesia, Spinal methods, Pregnancy Complications physiopathology, Spinal Muscular Atrophies of Childhood physiopathology
- Abstract
In the past, pregnancy was contraindicated in patients with spinal muscular atrophy. Recently, more cases are occurring because of improvement in survival and functional status. The goals for anesthetic management of these patients include satisfactory anesthesia during surgery and excellent postoperative analgesia with minimal compromise of respiratory function. Spinal anesthesia may be considered contraindicated due to spinal deformities, but successful spinal anesthesia was performed in a 37 year old parturient following magnetic resonance imaging of the spine., (Copyright © 2012 Elsevier Inc. All rights reserved.)
- Published
- 2012
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36. Preeclampsia in women with chronic kidney disease.
- Author
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Maruotti GM, Sarno L, Napolitano R, Mazzarelli LL, Quaglia F, Capone A, Capuano A, and Martinelli P
- Subjects
- Adult, Birth Weight physiology, Cohort Studies, Female, Gestational Age, HELLP Syndrome epidemiology, HELLP Syndrome etiology, Humans, Infant, Newborn, Infant, Newborn, Diseases epidemiology, Infant, Newborn, Diseases etiology, Pre-Eclampsia diagnosis, Pre-Eclampsia epidemiology, Pregnancy, Pregnancy Outcome epidemiology, Premature Birth epidemiology, Premature Birth etiology, Renal Insufficiency, Chronic diagnosis, Renal Insufficiency, Chronic epidemiology, Risk Factors, Pre-Eclampsia etiology, Renal Insufficiency, Chronic complications
- Abstract
Objective: Women with chronic kidney disease have an increased risk of developing preeclampsia and its severe complications. Currently, there are no assessments available in order to quantify such risk. The aim of the study is to establish the incidence of superimposed preeclampsia in women with chronic kidney disease according to Serum creatinine (SCr) level., Methods: Pregnant women with chronic kidney disease were retrospectively identified from January 2000 to July 2010. We defined two groups according to SCr: Group 1: SCr ≤ 125 µmol/l; Group 2: SCr > 125 µmol/l. Incidence of preeclampsia, early preeclampsia (delivery <34 weeks), gestational age (GA) at diagnosis and delivery outcome were assessed., Results: Ninety-three nephropatic women were considered for the analysis. Group 2 (n = 14) compared with Group 1 (n = 79) had an increased incidence of preeclampsia (78.6% vs. 25.3%; p < 0.0001), an increased rate of pregnancy complications as early preeclampsia (82% vs. 38%; p < 0.03), a lower GA at diagnosis (29 ± 2 vs. 33 ± 1 weeks; p < 0.04) and a lower GA at delivery (30 ± 2 weeks vs. 34 ± 1; p < 0.04)., Conclusion: Women with chronic kidney disease and an increased creatinine threshold have a high risk of developing preeclampsia and delivering preterm.
- Published
- 2012
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37. Trisomy 18 caused by isochromosome 18p and 18q formation: Is there a milder phenotype?
- Author
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Maruotti GM, Fabbrini F, Napolitano R, Genesio R, Conti A, Mallia Milanes G, Mazzarelli LL, and Martinelli P
- Subjects
- Adult, Chromosome Banding, Female, Fetus, Humans, In Situ Hybridization, Fluorescence, Prenatal Diagnosis, Trisomy pathology, Chromosomes, Human, Pair 18 genetics, Isochromosomes genetics, Phenotype, Trisomy genetics
- Published
- 2011
- Full Text
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38. Prevalence and characteristics of symptomatic and asymptomatic tuboovarian masses in women with HIV: an ultrasonographic study.
- Author
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Napolitano R, Sansone M, Floridia M, Cappelli C, Maruotti GM, Agangi A, Capone A, Mazzarelli LL, and Martinelli P
- Subjects
- Adolescent, Adult, Child, Early Detection of Cancer methods, Female, Humans, Middle Aged, Prevalence, Ultrasonography methods, Young Adult, Fallopian Tube Neoplasms epidemiology, Fallopian Tube Neoplasms pathology, HIV Infections complications, Ovarian Neoplasms epidemiology, Ovarian Neoplasms pathology
- Abstract
HIV-positive women with pelvic inflammatory disease have been reported to have an increased prevalence of tuboovarian masses (TOMs). The aim of this study was to assess the prevalence of asymptomatic ultrasonographic TOMs in women with HIV and to identify associated factors in order to formulate a selective ultrasonographic screening strategy. Two-hundred and four HIV outpatients underwent transvaginal ultrasonography. Eight (3.9%) had a diagnosis of TOM (5 were asymptomatic). Two profiles of patients at risk for TOM were identified who could be considered for selective screening strategies: the 'long-term infected' (age>35 years, diagnosis of HIV infection more than 5 years ago, HIV clinical category C, CD4 counts below 200/mm(3), >5 lifetime partners and on antiretroviral therapy) and the 'recently diagnosed with HIV' (African ethnicity, age 25-35, HIV diagnosis in the previous year, >5 lifetime partners, HIV clinical category C and not on antiretroviral therapy).
- Published
- 2010
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- View/download PDF
39. Prenatal 2D and 3D ultrasound diagnosis of diprosopus: case report with post-mortem magnetic resonance images (MRI) and review of the literature.
- Author
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Maruotti GM, Paladini D, Napolitano R, Mazzarelli LL, Russo T, Quarantelli M, D'Armiento MR, and Martinelli P
- Subjects
- Adult, Diagnosis, Female, Humans, Imaging, Three-Dimensional methods, Infant, Newborn, Male, Pregnancy, Pregnancy, Multiple, Stillbirth, Twins, Magnetic Resonance Imaging methods, Twins, Conjoined pathology, Ultrasonography, Prenatal methods
- Published
- 2009
- Full Text
- View/download PDF
40. Fetal borderline cerebral ventriculomegaly: clinical significance and management.
- Author
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Simioli S, Napolitano R, Quaglia F, Mazzarelli LL, Agangi A, Milanes GM, Tessitore G, Iannaccone A, Maruotti GM, and Martinelli P
- Subjects
- Abortion, Legal, Adult, Cerebral Ventricles abnormalities, Female, Humans, Predictive Value of Tests, Pregnancy, Pregnancy Outcome, Pregnancy Trimester, Second, Pregnancy Trimester, Third, Prenatal Diagnosis, Retrospective Studies, Risk Assessment, Severity of Illness Index, Abnormalities, Multiple diagnostic imaging, Hydrocephalus diagnostic imaging, Lateral Ventricles abnormalities, Ultrasonography, Prenatal
- Abstract
Aim: The aim of this study was to evaluate the clinical significance and the management of fetal borderline lateral cerebral ventriculomegaly., Methods: Fetuses with a sonographic diagnosis of lateral cerebral ventriculomegaly isolated or associated to other fetal malformations were followed monthly and a review of the English-language literature was made., Results: Of 86 fetuses analyzed, 30 suffered from hydrocephaly (monolateral, bilateral), 56 showed also several other malformations . Chromosomal aberrations is possible also in case of isolated hydrocephaly. Neurological sequelae, mostly a mild to moderate delay in cognitive and/or motor development, is present in 10% of the cases., Conclusions: In most cases, isolated borderline lateral cerebral ventriculomegaly has no consequence. However, the risk of cerebral maldevelopment, delayed neurological development and, possibly, chromosomal aberrations is increased. The optimum management of these cases remains uncertain.
- Published
- 2009
41. Prenatal diagnosis of Ulbright-Hodes syndrome.
- Author
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Maruotti GM, Agangi A, Napolitano R, Mazzarelli LL, Quaglia F, Carbone IF, D'Armiento MR, and Martinelli P
- Subjects
- Female, Humans, Pregnancy, Syndrome, Abnormalities, Multiple diagnostic imaging, Kidney Diseases congenital, Kidney Diseases diagnostic imaging, Limb Deformities, Congenital diagnostic imaging, Ultrasonography, Prenatal methods
- Published
- 2009
- Full Text
- View/download PDF
42. Is uterine artery embolization for cervical ectopic pregnancy always safe?
- Author
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Martinelli P, Maruotti GM, Oppedisano R, Agangi A, Mazzarelli LL, Votino C, Quarantelli M, and Iaccarino V
- Subjects
- Adult, Arteries surgery, Cervix Uteri pathology, Dilatation and Curettage, Electrocoagulation adverse effects, Electrocoagulation methods, Female, Humans, Hysterectomy, Pregnancy, Cervix Uteri blood supply, Embolization, Therapeutic, Pregnancy, Ectopic therapy, Uterus blood supply
- Abstract
The study objective was to assess the feasibility and the efficacy of bilateral uterine artery embolization (BUAE) for the treatment of cervical pregnancy. The design was a series of 3 cases of viable cervical pregnancy diagnosed by transvaginal ultrasonography and treated by means of BUAE and subsequent uterine curettage. Three women with viable cervical pregnancy underwent BUAE and subsequent uterine curettage in the department of obstetrics and gynecology, High Risk Pregnancy Center, University "Federico II" of Naples. Measurements included surgical outcomes and preservation of fertility. The treatment was effective in all cases. Two patients resumed normal menstruation about 1 month after the procedure, whereas 1 patient underwent a hysterectomy 2 weeks after embolization because of acute ischemic degeneration of a concomitant myoma. The conservative management of cervical pregnancy with angiographic BUAE is a feasible and effective option, even if subsequent hysterectomy may be required. Counseling is necessary.
- Published
- 2007
- Full Text
- View/download PDF
43. Prenatal diagnosis of arthrogryposis.
- Author
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Mallia Milanes G, Napolitano R, Quaglia F, Mazzarelli LL, Agangi A, Tessitore G, Sansone M, Simioli S, Maruotti GM, and Martinelli P
- Subjects
- Adult, Female, Humans, Pregnancy, Arthrogryposis diagnostic imaging, Ultrasonography, Prenatal
- Published
- 2007
44. Prenatal diagnosis of hemifacial microsomia and ipsilateral cerebellar hypoplasia in a fetus with oculoauriculovertebral spectrum.
- Author
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Martinelli P, Maruotti GM, Agangi A, Mazzarelli LL, Bifulco G, and Paladini D
- Subjects
- Adult, Cerebellum abnormalities, Cerebellum diagnostic imaging, Female, Humans, Pregnancy, Facial Asymmetry diagnostic imaging, Fetal Diseases diagnostic imaging, Goldenhar Syndrome diagnostic imaging, Ultrasonography, Prenatal methods
- Abstract
Oculoauriculovertebral spectrum, or Goldenhar syndrome, is characterized by varying degrees of prevalently unilateral underdevelopment of craniofacial structures (orbit, ear, mandible) and spinal anomalies. We report the prenatal ultrasonographic diagnosis made at 24 weeks' gestation in a family with a negative history. The prenatal diagnosis was suspected due to the presence of marked hemifacial microsomia and moderate ipsilateral cerebellar hemisphere hypoplasia in the absence of facial clefting., (Copyright 2004 ISUOG)
- Published
- 2004
- Full Text
- View/download PDF
45. [Pentalogy of Cantrell: first trimester prenatal diagnosis and association with multicistic dysplastic kidney].
- Author
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Pollio F, Sica C, Pacilio N, Maruotti GM, Mazzarelli LL, Cirillo P, Votino C, and Di Francesco D
- Subjects
- Abdominal Wall abnormalities, Abdominal Wall diagnostic imaging, Adult, Diaphragm abnormalities, Diaphragm diagnostic imaging, Female, Heart Defects, Congenital complications, Heart Defects, Congenital diagnostic imaging, Humans, Multicystic Dysplastic Kidney complications, Pericardium abnormalities, Pericardium diagnostic imaging, Pregnancy, Pregnancy Trimester, First, Sternum abnormalities, Sternum diagnostic imaging, Syndrome, Abnormalities, Multiple diagnostic imaging, Multicystic Dysplastic Kidney diagnostic imaging, Ultrasonography, Prenatal
- Abstract
Pentalogy of Cantrell is a rare congenital anomaly consisting of the following features: 1) midline supraumbilical abdominal wall defects; 2) deficiency of the anterior diaphragm; 3) defects in the diaphragmatic pericardium; 4) defects of the lower sternum; 5) congenital intracardiac defects. We report 3 cases of pentalogy of Cantrell diagnosed respectively at 13, 18 and 24 weeks of gestation. In case 1 Cantrell's pentalogy was diagnosed during the 1(st) trimester. Case 2 revealed the coexistence of cystic hygroma. Case 3 showed an association with dysplastic left kidney and mild pyelectasis of the right kidney. Our results confirm the possibility of an early detection of Cantrell's pentalogy and reveal the possibility of associations with other pathological findings.
- Published
- 2003
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