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Article ; Online: Placental fetal vascular malperfusion, neonatal neurologic morbidity, and infant neurodevelopmental outcomes: a systematic review and meta-analysis.

Spinillo, Arsenio / Dominoni, Mattia / Mas, Francesca Dal / Cesari, Stefania / Fiandrino, Giacomo / Gardella, Barbara

American journal of obstetrics and gynecology

2023 Volume 229, Issue 6, Page(s) 632–640.e2

Abstract: Objective: This study aimed to evaluate the association of placental fetal vascular malperfusion lesions with neonatal brain injury and adverse infant neurodevelopmental outcomes.: Data sources: PubMed and Medline, Scopus, and Cochrane databases were ...

Abstract	Objective: This study aimed to evaluate the association of placental fetal vascular malperfusion lesions with neonatal brain injury and adverse infant neurodevelopmental outcomes. Data sources: PubMed and Medline, Scopus, and Cochrane databases were searched from inception to July 2022. Study eligibility criteria: We included cohort and case-control studies reporting the associations of fetal vascular malperfusion lesions with neonatal encephalopathy, perinatal stroke, intracranial hemorrhage, periventricular leukomalacia, and infant neurodevelopmental and cognitive outcomes. Methods: Data were analyzed by including fetal vascular malperfusion lesions as an exposure variable and brain injuries or neurodevelopmental impairment as outcomes using random-effects models. The effect of moderators, such as gestational age or study type, was assessed by subgroup analysis. Study quality and risk of bias were assessed by applying the Observational Study Quality Evaluation method. Results: Out of the 1115 identified articles, 26 were selected for quantitative analysis. The rates of neonatal central nervous system injury (neonatal encephalopathy or perinatal stroke) in term or near-term infants were more common among fetal vascular malperfusion cases (n=145) than among controls (n=1623) (odds ratio, 4.00; 95% confidence interval, 2.72-5.90). In premature deliveries, fetal vascular malperfusion lesions did not influence the risk of intracranial hemorrhage or periventricular leukomalacia (odds ratio, 1.40; 95% confidence interval, 0.90-2.18). Fetal vascular malperfusion-associated risk of abnormal infant neurodevelopmental outcome (314 fetal vascular malperfusion cases and 1329 controls) was modulated by gestational age being higher in term infants (odds ratio, 5.02; 95% confidence interval, 1.59-15.91) than in preterm infants (odds ratio, 1.70; 95% confidence interval, 1.13-2.56). Abnormal infant cognitive development and mental development were more common among fetal vascular malperfusion cases (n=241) than among controls (n=2477) (odds ratio, 2.14; 95% confidence interval, 1.40-3.27). The type of study (cohort vs case-control) did not influence the association between fetal vascular malperfusion and subsequent infant brain injury or abnormal neurodevelopmental outcome. Conclusion: The findings of cohort and case-control studies indicate a considerable association between fetal vascular malperfusion placental lesions and increased risk of brain injury in term neonates, and neurodevelopmental impairment in both term and preterm infants. A diagnosis of placental fetal vascular malperfusion should be taken into consideration by both pediatricians and neurologists during the follow-up of infants at risk of adverse neurodevelopmental outcomes.
MeSH term(s)	Infant, Newborn ; Infant ; Pregnancy ; Female ; Humans ; Placenta/pathology ; Infant, Premature ; Leukomalacia, Periventricular/epidemiology ; Leukomalacia, Periventricular/pathology ; Intracranial Hemorrhages ; Infant, Newborn, Diseases ; Stroke ; Brain Injuries/pathology ; Morbidity ; Observational Studies as Topic
Language	English
Publishing date	2023-06-12
Publishing country	United States
Document type	Meta-Analysis ; Systematic Review ; Journal Article ; Review
ZDB-ID	80016-8
ISSN	1097-6868 ; 0002-9378
ISSN (online)	1097-6868
ISSN	0002-9378
DOI	10.1016/j.ajog.2023.06.014
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Article ; Online: The role of neutrophil-lymphocytes ratio (NLR) in the prognosis of CIN2+ 2 recurrence after excisional treatment.

Dominoni, Mattia / Barcellini, Amelia / Pasquali, Marianna Francesca / De Silvestri, Annalisa / Ferretti, Virginia Valeria / Cesari, Stefania / Fiandrino, Giacomo / Orlandi, Ester / Gardella, Barbara

Gynecologic and obstetric investigation

2024

Abstract: Objectives: The main risk factor involved in CIN2+ recurrence after treatment is the HPV persistent infection. The dysregulation of the immune system permits only HR-HPVs to become persistent infections, to promote cancer development and to increase the ...

Abstract	Objectives: The main risk factor involved in CIN2+ recurrence after treatment is the HPV persistent infection. The dysregulation of the immune system permits only HR-HPVs to become persistent infections, to promote cancer development and to increase the risk of recurrence after treatment. Therefore, there is a shift to a Th2-type cytokine pattern during the carcinogenesis pathway; for this reason, the neutrophil-lymphocytes ratio (NLR) could be a marker of this immunological change. The study aims to analyse the predictive role of NLR in the recurrence of High-grade CIN (CIN2+) after excisional treatment in a real-world life setting of patients treated for CIN2+ Design: cross-sectional study Participants/Materials, Setting, Methods: We examined a retrospective database of 444 patients, who attended the Colposcopy Service of our Department from 2011 to 2020 due to an abnormal screening pap smear and we compared the clinical characteristics to NLR performed at the time of diagnosis. All analysed patients were treated according to an established protocol (colposcopy every 6 months for the first two years, and every year for the over three years,) and HPV-DNA test and cervical biopsy were performed at entry and the end of follow-up. All patients underwent a blood sample examination, including complete white blood cell counts and collecting neutrophil and lymphocyte values expressed as 103/ml. Results The sensitivity (SE) and specificity (SP) of the NLR cut-off point of 1.34 for the diagnosis of CIN2+ recurrence were 0.76 and 0.67, respectively. We found that CIN2+ recurrences were significantly higher in patients with NLR < 1.34 (3.7% vs. 0.6%, p = 0.033) and the 5-year recurrence-free survival was higher in patients with NLR ≥ 1.34 (97% vs. 93%, p=0.030). Limitations First, the retrospective analysis and low incidence of recurrence may limit the conclusions. Second, for the retrospective design of the study, we did not take into consideration the patient's comorbidities and habits (smoking), that may influence the NLR. On the other hand, the median duration of follow-up in our study was 26 months (IQR 22-31), which fully reflects the incidence of recurrences. Conclusions It is well known that CIN2+ lesions are sustained by deregulation of the immune system caused by persistent HPV infection, which may lead to cervical cancer. Among the actors underlying dysregulation of immunity, lymphocytes are involved in the permission of persistent infection and for this reason, NRL could be a reliable and cost-effective biomarker in predicting the risk of recurrence, especially for high-grade cervical lesions.
Language	English
Publishing date	2024-03-18
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	800003-7
ISSN	1423-002X ; 0378-7346
ISSN (online)	1423-002X
ISSN	0378-7346
DOI	10.1159/000534790
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Article: Erosive Pustular Dermatosis of the Scalp: A Clinicopathologic Study of Fifty Cases.

Michelerio, Andrea / Vassallo, Camilla / Fiandrino, Giacomo / Tomasini, Carlo Francesco

Dermatopathology (Basel, Switzerland)

2021 Volume 8, Issue 4, Page(s) 450–462

Abstract: Erosive pustular dermatosis of the scalp (EPDS) is an uncommon, pustular, idiopathic disorder typically occurring on the scalp of the elderly, whose diagnosis requires close clinicopathologic correlations. Recently, the primary histopathologic ... ...

Abstract	Erosive pustular dermatosis of the scalp (EPDS) is an uncommon, pustular, idiopathic disorder typically occurring on the scalp of the elderly, whose diagnosis requires close clinicopathologic correlations. Recently, the primary histopathologic characteristic of EPDS has been identified in some biopsies from hair-bearing scalp lesions as a sterile, vesiculo-pustule involving the infundibulum of hair follicles. To further delineate the clinicopathologic spectrum of the disease, we led a retrospective study of 50 patients (36 males and 14 females) with a diagnosis of EPDS between 2011 and 2021, reviewing clinical and histopathological data. Androgenetic alopecia was present in 32 patients. Triggering factors were present in 21 patients. The vertex was the most common location; one patient also had leg involvement. Two cases were familial. Disease presentation varied markedly from tiny, erosive, scaly lesions to crusted and hemorrhagic plaques, mimicking pustular pyoderma gangrenosum (PPG). Biopsies of patients with severe androgenetic or total baldness produced specimens showing nonspecific pathologic changes (39/50), while in 11 patients with a hair-bearing scalp histopathologic examination, changes were specific. The clinicopathologic similarities between EPDS and PPG suggest that EPDS should be included in the spectrum of autoinflammatory dermatoses. Clinicians could consider the possibility of associated disorders rather than managing EPDS as a sui generis skin disorder.
Language	English
Publishing date	2021-09-23
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2777118-0
ISSN	2296-3529
ISSN	2296-3529
DOI	10.3390/dermatopathology8040048
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Article: Low-Grade Cervical Intraepithelial Neoplasia (CIN1) Evolution: Analysis of Opportunistic Preventive Vaccination Role.

Gardella, Barbara / Dominoni, Mattia / Pasquali, Marianna Francesca / Melito, Chiara / Fiandrino, Giacomo / Cesari, Stefania / La Verde, Marco / Spinillo, Arsenio

Vaccines

2023 Volume 11, Issue 2

Abstract: Background: Low-grade cervical lesions have a high percentage of clearance in young women, even if 71-82% of low-grade intraepithelial lesion/atypical squamous cells of undetermined significance (LSIL/ASCUS) reported a High-Risk Human Papillomavirus (HR- ...

Abstract	Background: Low-grade cervical lesions have a high percentage of clearance in young women, even if 71-82% of low-grade intraepithelial lesion/atypical squamous cells of undetermined significance (LSIL/ASCUS) reported a High-Risk Human Papillomavirus (HR-HPV) infection, which correlates with an increased risk of Cervical Intraepithelial Neoplasia (CIN)2+. The immunogenic effect of the anti-HPV vaccine appears to be significant. The aim of the study is to evaluate the effect, two years after the diagnosis, of the anti-HPV preventive vaccination on patients with low-grade cervical lesions. Methods: We collected clinical, colposcopic, histological, and virological data from patients aged 21-45 years who attended the colposcopy service of the department of Obsetrics and Gynecology of IRCCS Foundation Policlinico San Matteo, Pavia, Italy. In the 2005-2019 period and had a low-grade pap-smear. Results: We enrolled 422 women consecutively, divided into two groups (vaccinated and not vaccinated) for the retrospective analysis. The rate of persistence and progression of CIN were higher in the not-vaccinated group ( Conclusions: We reported in a retrospective study the benefit of anti-HPV vaccination in promoting negativity and increasing low-grade cervical lesions regression.
Language	English
Publishing date	2023-01-28
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2703319-3
ISSN	2076-393X
ISSN	2076-393X
DOI	10.3390/vaccines11020284
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Article ; Online: Placental pathologic features in obesity.

Beneventi, Fausta / Bellingeri, Camilla / De Maggio, Irene / Cavagnoli, Chiara / Fumanelli, Silvia / Ligari, Elisa / Fiandrino, Giacomo / Cesari, Stefania / Spinillo, Arsenio

Placenta

2023 Volume 144, Page(s) 1–7

Abstract: Introduction: Obesity in pregnancy is associated with adverse long-term consequences both in the mother and in offspring. Maternal obesity induces a metabolic-inflammatory state that could impact on placental function and could mediate the adverse ... ...

Abstract	Introduction: Obesity in pregnancy is associated with adverse long-term consequences both in the mother and in offspring. Maternal obesity induces a metabolic-inflammatory state that could impact on placental function and could mediate the adverse outcomes. The purpose of this study was to compare the major placental histological characteristics of non-diabetic obese women to lean controls, focusing on uncomplicated pregnancies. Methods: Prospective case-control study comparing placental histopathological features between 122 non-diabetic obese women and 185 non-obese controls. The analysis was performed on overall subjects, then uncomplicated pregnancies from both groups were analyzed. Placenta pathologic findings were recorded according to standard classification. Results: Both in overall analysis and among the subset of subjects with an uncomplicated pregnancy, obese subjects had higher risks of maternal vascular malperfusion (MVM) (respectively OR=2.2, 95%CI =1.3-3.7 and OR=4.2, 95%CI=2.1-8.5), fetal vascular malperfusion (FVM) (respectively OR=6.3, 95%CI=3.1-12.5 and OR=7.2, 95%CI=3-17.2), maternal and fetal inflammatory response placental lesions and villitis (VUE) (respectively OR=2.5, 95%CI=1.1-5.6 and OR=10.8, 95%CI=3.3-35.3) compared to controls. Among uncomplicated pregnancies and after adjustment for confounders, first trimester BMI was significantly associated with overall MVM, overall FVM, maternal inflammatory, fetal inflammatory response and VUE. Discussion: Placentas from obese women showed a significantly higher risk of maternal and fetal vascular and inflammatory placental lesions, both in overall population and in the subgroup with uncomplicated pregnancies. The metabolic and inflammatory dysfunctions typical of obesity could have an impact on placental development and function, which could be a mediator of the detrimental effects of obesity on pregnancy outcome and on future health of the offspring.
MeSH term(s)	Pregnancy ; Female ; Humans ; Placenta/pathology ; Case-Control Studies ; Pregnancy Outcome ; Placenta Diseases/pathology ; Obesity/pathology
Language	English
Publishing date	2023-10-30
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	603951-0
ISSN	1532-3102 ; 0143-4004
ISSN (online)	1532-3102
ISSN	0143-4004
DOI	10.1016/j.placenta.2023.10.011
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Article ; Online: Retrospective Investigation of Human Papillomavirus Cervical Infection and Lymphoma Incidence: A Clinical and Pathological Evaluation.

Gardella, Barbara / Dominoni, Mattia / Pasquali, Marianna Francesca / Gotti, Manuel / Fraticelli, Sara / Lucioni, Marco / Cesari, Stefania / Fiandrino, Giacomo / De Silvestri, Annalisa / Zerbi, Caterina / Lazic, Tanja / Arcaini, Luca / Paulli, Marco / Spinillo, Arsenio

Gynecologic and obstetric investigation

2024 Volume 89, Issue 2, Page(s) 95–102

Abstract: Objective: Human papillomavirus (HPV) persistence is considered the main risk factor for neoplastic progression, and evidence suggests that regulatory T cells play an important role in the failure of viral elimination. Regulatory T cells may be involved ...

Abstract	Objective: Human papillomavirus (HPV) persistence is considered the main risk factor for neoplastic progression, and evidence suggests that regulatory T cells play an important role in the failure of viral elimination. Regulatory T cells may be involved in maintaining a microenvironment favourable for viral persistence and neoplasticity, through a deregulation of the local immune response. The association between altered immune function and the development of chronic infections, cancer (solid and haematological), and autoimmune diseases is documented in the literature. The purpose of this retrospective analysis was to evaluate the possible correlation between HPV cervical infection and lymphoma incidence in women attending colposcopy due to an abnormal Pap smear during a period of 15 years. Design: This is a cross-sectional study. Participants: We investigated retrospectively the incidence of haematological diseases in women aged 21-84 with an abnormal Pap smear who referred to our centre between 2004 and 2019. Setting: This study was conducted at the university hospital. Methods: In our analysis, we included women with diagnoses of HL and NHL after the detection of abnormal Pap smears and HPV infections. We excluded patients with a diagnosis of lymphoma preceding the date of the abnormal Pap smear and HPV test. Results: We divided the patients into two groups in order to analyse the standard incidence ratio (SIR): HL patients (19/7,064, 0.26%) and NHL patients (22/7,064, 0.31%). In our sample, we reported a significant risk of developing lymphoma compared to the general population, both for HL and NHL disease, at age <45 years. Regarding HL, the SIR of disease in women <45 years was 4.886 (95% CI 2.775-9.6029) and in women between 45 and 59 years was 2.612 (95% CI 0.96-7.108804). On the other hand, for NHL in women <45 years, we reported an SIR of about 3.007 (95%, CI 1.273-7.101575), in women aged 45-59 years, the SIR was 4.291 (95% CI 2.444-7.534399), and in women aged 60-74 years, the SIR was 3.283 (95% CI 1.054-10.22303). Limitations: This retrospective analysis was conducted in a single centre in Northern Italy and did not consider all interregional differences existing in the country in terms of HPV genotypes, ethnicity, and population characteristics. Regarding the analysis of SIR for HL and NHL, we did not divide the disease into subtypes because of the small sample of cases. Finally, we considered in our analysis only women with an abnormal Pap smear and not the general population. Conclusions: Women with chronic and persistent HPV infections may have a higher relative risk of developing lymphoma. This possible association may be caused by the deregulation of the immune system response against HPV and the failure of viral clearance, especially in younger women.
MeSH term(s)	Humans ; Female ; Middle Aged ; Papillomavirus Infections/complications ; Papillomavirus Infections/epidemiology ; Papillomavirus Infections/diagnosis ; Vaginal Smears ; Retrospective Studies ; Papanicolaou Test ; Uterine Cervical Neoplasms/pathology ; Cross-Sectional Studies ; Papillomaviridae/genetics ; Human Papillomavirus Viruses ; Lymphoma/epidemiology ; Uterine Cervical Dysplasia/pathology ; DNA, Viral/analysis ; Tumor Microenvironment
Chemical Substances	DNA, Viral
Language	English
Publishing date	2024-01-23
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	800003-7
ISSN	1423-002X ; 0378-7346
ISSN (online)	1423-002X
ISSN	0378-7346
DOI	10.1159/000535592
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Article: What is known about neuroplacentology in fetal growth restriction and in preterm infants: A narrative review of literature.

Gardella, Barbara / Dominoni, Mattia / Scatigno, Annachiara Licia / Cesari, Stefania / Fiandrino, Giacomo / Orcesi, Simona / Spinillo, Arsenio

Frontiers in endocrinology

2022 Volume 13, Page(s) 936171

Abstract: The placenta plays a fundamental role during pregnancy for fetal growth and development. A suboptimal placental function may result in severe consequences during the infant's first years of life. In recent years, a new field known as neuroplacentology ... ...

Abstract	The placenta plays a fundamental role during pregnancy for fetal growth and development. A suboptimal placental function may result in severe consequences during the infant's first years of life. In recent years, a new field known as neuroplacentology has emerged and it focuses on the role of the placenta in fetal and neonatal brain development. Because of the limited data, our aim was to provide a narrative review of the most recent knowledge about the relation between placental lesions and fetal and newborn neurological development. Papers published online from 2000 until February 2022 were taken into consideration and particular attention was given to articles in which placental lesions were related to neonatal morbidity and short-term and long-term neurological outcome. Most research regarding the role of placental lesions in neurodevelopment has been conducted on fetal growth restriction and preterm infants. Principal neurological outcomes investigated were periventricular leukomalacia, intraventricular hemorrhages, neonatal encephalopathy and autism spectrum disorder. No consequences in motor development were found. All the considered studies agree about the crucial role played by placenta in fetal and neonatal neurological development and outcome. However, the causal mechanisms remain largely unknown. Knowledge on the pathophysiological mechanisms and on placenta-related risks for neurological problems may provide clues for early interventions aiming to improve neurological outcomes, especially among pediatricians and child psychiatrists.
MeSH term(s)	Autism Spectrum Disorder/pathology ; Female ; Fetal Growth Retardation/pathology ; Humans ; Infant ; Infant, Newborn ; Infant, Premature ; Placenta/pathology ; Placenta Diseases/pathology ; Pregnancy
Language	English
Publishing date	2022-08-19
Publishing country	Switzerland
Document type	Journal Article ; Review ; Research Support, Non-U.S. Gov't
ZDB-ID	2592084-4
ISSN	1664-2392
ISSN	1664-2392
DOI	10.3389/fendo.2022.936171
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Article ; Online: Clinical Correlates of Placental Pathologic Features in Early-Onset Fetal Growth Restriction.

Spinillo, Arsenio / Meroni, Anna / Melito, Chiara / Scatigno, Annachiara Licia / Tzialla, Chryssoula / Fiandrino, Giacomo / Cesari, Stefania / Gardella, Barbara

Fetal diagnosis and therapy

2022 Volume 49, Issue 5-6, Page(s) 215–224

Abstract: Introduction: The purpose of this study was to evaluate the association between placental pathologic features of maternal (MVM) or fetal (FVM) vascular malperfusion and clinical characteristics, sonographic findings and neonatal outcome in a cohort of ... ...

Abstract	Introduction: The purpose of this study was to evaluate the association between placental pathologic features of maternal (MVM) or fetal (FVM) vascular malperfusion and clinical characteristics, sonographic findings and neonatal outcome in a cohort of pregnancies complicated by early-onset (diagnosed before 32 weeks of gestational age) fetal growth restriction (FGR). Methods: A prospective cohort study included 250 singleton early-onset FGR pregnancies diagnosed, followed up and delivered at a single center. Placental pathologic lesions were classified according to standard recommendations. Logistic regression and Cox analysis were used to evaluate outcomes adjusting for confounders. Results: Overall features of severe placental MVM and FVM were observed in 29.6% (74/250) and 12.8% (32/250) of the subjects, respectively. Severe placental MVM lesions were more common among subjects with umbilical artery Doppler Pulsatility Index >95th than ≤95th percentile (50/120 as opposed to 24/130, Adj odds ratio [OR] = 3, 95% CI = 1.6-5.4) and Cerebroplacental ratio <5th than ≥5th percentile (48/115 as opposed to 26/135, Adj OR = 2.7, 95% CI = 1.5-4.9). Mean time from FGR diagnosis to delivery was shorter among subjects with severe MVM (25.5 days, 95% CI = 20.6-30.2, Adj. OR = 1.9, 95% CI = 1.9, 95% CI = 1.4-2.5) when compared to both those with mild/moderate MVM (36.5 days [95% CI = 27.2-45, p = 0.04]) or no MVM (39.4, 95% CI = 35.4-43.4, p < 0.001). Finally, severe FVM was associated with an increased risk of perinatal/neonatal death or severe brain lesions (9/28 in subjects with perinatal/neonatal death/brain lesions as compared to 23/222 in controls, Adj OR = 3, 95% CI = 1.05-8.6) or severe adverse neonatal outcomes (13/46 in subjects with severe adverse outcome as compared to 19/204 among controls, Adj OR = 3.2, 95% CI = 1.2-8.5). Conclusions: In early-onset FGR, placental pathologic features of MVM and FVM are, in different regards, associated to severity of clinical picture, abnormal Doppler markers of placental and fetal circulation and of neonatal outcome, respectively.
MeSH term(s)	Female ; Fetal Growth Retardation/pathology ; Humans ; Infant, Newborn ; Perinatal Death ; Placenta/blood supply ; Pregnancy ; Pregnancy Outcome ; Prospective Studies ; Retrospective Studies
Language	English
Publishing date	2022-02-14
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	1066460-9
ISSN	1421-9964 ; 1015-3837
ISSN (online)	1421-9964
ISSN	1015-3837
DOI	10.1159/000522202
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Article ; Online: SCN2A and arrhythmia: A potential correlation? A case report and literature review.

Tzialla, Chryssoula / Arossa, Alessia / Mannarino, Savina / Orcesi, Simona / Veggiotti, Pierangelo / Fiandrino, Giacomo / Zuffardi, Orsetta / Errichiello, Edoardo

European journal of medical genetics

2022 Volume 65, Issue 12, Page(s) 104639

Abstract: Variants in SCN2A, encoding the voltage-gated sodium channel Nav1.2, are commonly associated with developmental and epileptic encephalopathy. Although animal studies demonstrated a role for Nav1.2 in intraventricular conduction, heart anomalies have been ...

Abstract	Variants in SCN2A, encoding the voltage-gated sodium channel Nav1.2, are commonly associated with developmental and epileptic encephalopathy. Although animal studies demonstrated a role for Nav1.2 in intraventricular conduction, heart anomalies have been only occasionally described in patients with SCN2A variants. In this report we trace the prenatal and neonatal history of a fetus/newborn with a de novo pathogenic variant in the SCN2A gene identified by prenatal trio whole-exome sequencing (WES). In addition to more typically SCN2A-associated neurological manifestations, the patient showed sustained tachyarrhythmia, potentially expanding the phenotypic spectrum associated with SCN2A variants and raising the question of whether cardiological assessment and prompt pharmacological intervention in SCN2A channelopathies to avoid heart complications might be beneficial. To the best of our knowledge, this represents the first clinical description of a SCN2A phenotype in a prenatal setting, as well as the first SCN2A diagnosis achieved by prenatal trio-WES approach.
MeSH term(s)	Humans ; NAV1.2 Voltage-Gated Sodium Channel/genetics ; Phenotype ; Arrhythmias, Cardiac/genetics ; Mutation
Chemical Substances	NAV1.2 Voltage-Gated Sodium Channel ; SCN2A protein, human
Language	English
Publishing date	2022-10-04
Publishing country	Netherlands
Document type	Review ; Case Reports ; Journal Article
ZDB-ID	2184135-4
ISSN	1878-0849 ; 1769-7212
ISSN (online)	1878-0849
ISSN	1769-7212
DOI	10.1016/j.ejmg.2022.104639
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Article ; Online: Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature.

Trevisan, Valentina / Meroni, Anna / Leoni, Chiara / Sirchia, Fabio / Politano, Davide / Fiandrino, Giacomo / Giorgio, Valentina / Rigante, Donato / Limongelli, Domenico / Perri, Lucrezia / Sforza, Elisabetta / Leonardi, Francesca / Viscogliosi, Germana / Contaldo, Ilaria / Orteschi, Daniela / Proietti, Luca / Zampino, Giuseppe / Onesimo, Roberta

Genes

2024 Volume 15, Issue 3

Abstract: Background: Among aneuploidies compatible with life, trisomy 22 mosaicism is extremely rare, and only about 25 postnatal and 18 prenatal cases have been described in the literature so far. The condition is mainly characterized by facial and body ... ...

Abstract	Background: Among aneuploidies compatible with life, trisomy 22 mosaicism is extremely rare, and only about 25 postnatal and 18 prenatal cases have been described in the literature so far. The condition is mainly characterized by facial and body asymmetry, cardiac heart defects, facial dysmorphisms, growth failure, delayed puberty, and variable degrees of neurodevelopmental delay. Problem: The scattered information regarding the condition and the dearth of data on its natural history and developmental outcomes restrict genetic counseling, particularly in prenatal settings. Moreover, a prompt diagnosis is frequently delayed by the negative selection of trisomic cells in blood, with mosaicism percentage varying among tissues, which often entails the need for further testing. Purpose/topic: The aim of our work is to provide assistance in prenatal and postnatal genetic counseling by systematically delineating the current knowledge of the condition. This entails defining the prenatal and postnatal characteristics of the condition and presenting novel data from three cases, both prenatally and postnatally. Additionally, we report the developmental outcomes observed in two new patients.
MeSH term(s)	Pregnancy ; Female ; Humans ; Mosaicism ; Prenatal Diagnosis ; Trisomy/genetics ; Chromosomes, Human, Pair 22 ; Uniparental Disomy ; Chromosome Disorders
Language	English
Publishing date	2024-03-08
Publishing country	Switzerland
Document type	Systematic Review ; Journal Article ; Review
ZDB-ID	2527218-4
ISSN	2073-4425 ; 2073-4425
ISSN (online)	2073-4425
ISSN	2073-4425
DOI	10.3390/genes15030346
Database	MEDical Literature Analysis and Retrieval System OnLINE

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