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These guidelines follow the mission of the World Association of Perinatal Medicine, in collaboration with the Perinatal Medicine Foundation, which brings together groups and individuals worldwide, with the aim to improve prenatal detection of central nervous system anomalies and the appropriate referral of pregnancies with suspected fetal anomalies. In addition, this document provides further guidance for healthcare practitioners with the goal of standardizing the description of ultrasonographic abnormal findings., (© 2024 S. Karger AG, Basel.)

Objective: To assess the role of the choroid plexus (CP) of the fourth ventricle (4V) in fetuses with an open 4V and a normal cerebellar vermis., Methods: Two groups of patients were recruited in two fetal medicine referral centers. The prospectively collected control group included singleton pregnancies with a normal sonographic examination after first-trimester combined screening for chromosomal abnormalities and normal outcome, recruited in the period between 2019 and 2022. The study group was selected retrospectively by searching our databases to identify all cases with an isolated open 4V and normal anatomy and size of the cerebellar vermis. The inclusion criteria of the study group were: (1) gestational age between 20 and 22 weeks; (2) a brainstem-vermis angle ≥ 18° in the midsagittal plane with an otherwise normal cerebellum and vermis; (3) 4V-CP visible and seen separately from the vermis; (4) absence of other intra- and extracranial anomalies; and (5) available prenatal and/or postnatal magnetic resonance imaging (MRI) data., Results: In 169 cases of the control group, the 4V-CP was seen separately from the cerebellar vermis and was noticed to progressively fill the space caudal to the 4V, between the vermis and brainstem. From 12 to 22 weeks, the surface areas of the vermis and medial portion of the 4V-CP increased progressively with advancing gestation (P < 0.0001). Intra- and interobserver correlation analysis showed good reproducibility for the measurements. Among the cases with an open 4V and a normal vermis, it was retrospectively feasible to visualize the 4V-CP separately from the inferior part of the vermis in 41 fetuses. In five of these cases, the open 4V was due to a small CP. In all 41 fetuses, the diagnosis on MRI was isolated upward rotation of the cerebellar vermis, and no additional anomaly was found., Conclusions: Closure of the 4V is dependent on the 4V-CP and not only the cerebellar vermis. In fact, a small CP may represent another cause of an open 4V. Therefore, separate visualization of the 4V-CP and cerebellar vermis is crucial to improve discrimination between the different causes of an open 4V at the anomaly scan and its clinical implications. © 2023 International Society of Ultrasound in Obstetrics and Gynecology., (© 2023 International Society of Ultrasound in Obstetrics and Gynecology.)

Elderly people are at high risk of suffering from infection and being affected by severe forms of disease because their immunosystem suffers from aging. The alteration of normal immune functions causes the increase of pro-inflammatory cytokines which can expose these people to increased risk of developing pathologies as cancer, diabetes, and/or arthritis. Some supplements could be helpful for restoring normal immune functions. We conducted a case-control study to evaluate the efficacy of a supplement containing Sambucus nigra, zinc, tyndallized Lactobacillus acidophilus (HA122), arabinogalactans, vitamin D, vitamin E, and vitamin C to improve the inflammatory levels (IL-6 and CRP) and to modulate the lymphocytes growth. Additionally, we analyzed wellness by self-questionnaire. This study had two control group: a young group and an elderly one. Our study showed that treating elderly patients with the supplement for 30 days improved IL-6, CRP, and lymphocytes levels; the result was independent from the dosage of the supplements used. Elderly patients, despite the improvement, were not able to reach the same conditions of young patients; however, most of the patients (>70%) claimed to “feel better” after the use of the supplement. The use of this supplement should be considered at a low dosage for a prolonged period to reduce inflammation and modulate immune senescence in patients over 60 years old.

This recommendation document follows the mission of the World Association of Perinatal Medicine in collaboration with the Perinatal Medicine Foundation. We aim to bring together groups and individuals throughout the world for precise standardization to implement the ultrasound evaluation of the fetus in the first trimester of pregnancy and improve the early detection of anomalies and the clinical management of the pregnancy. The aim is to present a document that includes statements and recommendations on the standard evaluation of the fetal anatomy in the first trimester, based on quality evidence in the peer-reviewed literature as well as the experience of perinatal experts around the world., (© 2022 Walter de Gruyter GmbH, Berlin/Boston.)

Objective: The Coronavirus disease 2019 (COVID-19) pandemic has posed significant problems for patients who have undergone total laryngectomy (TL). The lack of specific guidelines and paucity of information available to the public on this topic has clearly emerged during the ongoing pandemic. The aim of the present study is to investigate our personal experience in managing the stoma in TL patients during the COVID-19 pandemic., Methods: A questionnaire was administered by phone to laryngectomised patients who had previously been seen at the outpatient otolaryngology clinics of Vittorio Veneto and Barletta Hospitals from January to December 2020., Results: A total of 92 patients were included. Twenty-five patients (27%) had been tested for SARS-CoV-2. Among these, 19 (76%) had been investigated with a nasal swab, 5 (20%) with a tracheal swab and 1 with a serological assay. Five patients were positive for SARS-CoV-2 (in 4 cases as a result of the nasal swab, in one case with the bronchial aspirate). Eighty-four patients (91%) used a heat moisture exchanger over the stoma every day, but 6 patients (6.5%) were unaware of the importance of protecting the stoma., Conclusions: We conclude that TL patients should always be adequately informed by healthcare staff about how to manage their stoma. Specific guidelines are needed for testing TL patients for SARS-CoV-2., (Copyright © 2022 Società Italiana di Otorinolaringoiatria e Chirurgia Cervico-Facciale, Rome, Italy.)

Objective: To describe the sonographic appearance and position of the choroid plexus of the fourth ventricle (4V-CP) between 12 and 21 weeks' gestation in normal fetuses and in fetuses with Dandy-Walker malformation (DWM) or Blake's pouch cyst (BPC)., Methods: The study population comprised 90 prospectively recruited normal singleton pregnancies and 41 pregnancies identified retrospectively from our institutional database that had a suspected posterior fossa anomaly at 12-13 weeks' gestation based on the ultrasound finding of abnormal hindbrain spaces. In all cases the final diagnosis was confirmed by prenatal and/or postnatal magnetic resonance imaging or postmortem examination. All pregnancies underwent a detailed ultrasound assessment, including a dedicated examination of the posterior fossa, at 12-13 weeks, 15-16 weeks and 20-21 weeks of gestation. Two-dimensional ultrasound images of the midsagittal and coronal views of the brain through the posterior fontanelle and three-dimensional volume datasets were obtained. Multiplanar orthogonal image correlation with volume contrast imaging was used as the reference visualization mode. Two independent operators, blinded to the fetal outcome, were asked to classify the 4V-CP as visible or not visible in both normal and abnormal cases, and to assess if the 4V-CP was positioned inside or outside the cyst in fetuses with DWM and BPC., Results: Of the 41 fetuses with apparently isolated cystic posterior fossa anomaly in the first trimester, eight were diagnosed with DWM, 29 were diagnosed with BPC and four were found to be normal in the second trimester. The position of the 4V-CP differed between DWM, BPC and normal cases in the first- and second-trimester ultrasound examinations. In particular, in normal fetuses, no cyst was present and, in the midsagittal and coronal planes of the posterior fossa, the 4V-CP appeared as an echogenic oval-shaped structure located inside the 4V apparently attached to the cerebellar vermis. In fetuses with DWM, the 4V-CP was not visible in the midsagittal view because it was displaced inferolaterally by the cyst. In contrast, in the coronal view of the posterior brain, the 4V-CP was visualized in all cases with DWM at 12-13 weeks, with a moderate decrease in the visualization rate at 15-16 weeks (87.5%) and at 20-21 weeks (75%). In the coronal view, the 4V-CP was classified as being outside the cyst in all DWM cases at 12-13 weeks and in 87.5% and 75% of cases at 15-16 and 20-21 weeks, respectively. In fetuses with BPC, the 4V-CP was visualized in all cases in both the midsagittal and coronal views at 12-13 weeks and in 100% and 96.6% of cases, respectively, at 15-16 weeks. In the coronal view, the 4V-CP was classified as being inside the cyst in 28 (96.6%), 27 (93.1%) and 25 (86.2%) cases at 12-13, 15-16 and 20-21 weeks, respectively. The medial segment of the 4V-CP was visualized near the inferior part of the vermis., Conclusions: Our study shows that longitudinal ultrasound assessment of the 4V-CP and its temporal changes from 12 to 21 weeks is feasible. The 4V-CP is located inside the cyst, just below the vermis, in BPC and outside the cyst, inferolaterally displaced and distant from the vermian margin, in DWM, consistent with the pathogenesis of the two conditions. The position of the 4V-CP is a useful sonographic marker that can help differentiate between DWM and BPC as early as in the first trimester of pregnancy. © 2021 International Society of Ultrasound in Obstetrics and Gynecology., (© 2021 International Society of Ultrasound in Obstetrics and Gynecology.)

Background: It has still to be ascertained whether severe acute respiratory syndrome coronavirus 2 infection in pregnancy is associated with worse maternal and fetal outcomes compared to low risk gestations., Objective: This study aimed to evaluate maternal and perinatal outcomes in high- and low-risk pregnancies complicated by severe acute respiratory syndrome coronavirus 2 infection., Study Design: This was a multinational retrospective cohort study involving women with laboratory-confirmed severe acute respiratory syndrome coronavirus 2 infection from 76 centers from 25 countries in Europe, the United States, South America, Asia, and Australia from April 4, 2020, to October 28, 2020. The primary outcome was a composite measure of maternal mortality and morbidity, including admission to the intensive care unit, use of mechanical ventilation, or death. The secondary outcome was a composite measure of adverse perinatal outcome, including miscarriage, fetal loss, neonatal and perinatal death, and admission to the neonatal intensive care unit. All outcomes were assessed in high- and low-risk pregnancies. Pregnancies were considered high risk in case of either preexisting chronic medical conditions in pregnancy or obstetrical disorders occurring in pregnancy. The Fisher exact test and logistic regression analysis were used to analyze the data., Results: A total of 887 singleton pregnancies who tested positive for severe acute respiratory syndrome coronavirus 2 infection using reverse transcription-polymerase chain reaction of nasal and pharyngeal swab specimens were included in the study. The risk of composite adverse maternal outcomes was higher in high-risk pregnancies than in low-risk pregnancies (odds ratio, 1.52; 95% confidence interval, 1.03-2.24; P=.035). In addition, women carrying high-risk pregnancies were at higher risk of hospital admission (odds ratio, 1.48; 95% confidence interval, 1.07-2.04; P=.002), presence of severe respiratory symptoms (odds ratio, 2.13; 95% confidence interval, 0.41-3.21; P=.001), admission to the intensive care unit (odds ratio, 2.63; 95% confidence interval, 1.42-4.88), and invasive mechanical ventilation (odds ratio, 2.65; 95% confidence interval, 1.19-5.94; P=.002). When exploring perinatal outcomes, high-risk pregnancies were at high risk of adverse perinatal outcomes (odds ratio, 1.78; 95% confidence interval, 0.15-2.72; P=.009). However, such association was mainly because of the higher incidence of miscarriage in high-risk pregnancies compared with that in low-risk pregnancies (5.3% vs 1.6%, P=.008); furthermore, there was no difference in other explored outcomes between the 2 study groups. At logistic regression analysis, maternal age (odds ratio, 1.12; 95% confidence interval, 1.02-1.22; P=.023) and high-risk pregnancy (odds ratio, 4.21; 95% confidence interval, 3.90-5.11; P<.001) were independently associated with adverse maternal outcomes., Conclusion: High-risk pregnancies complicated by severe acute respiratory syndrome coronavirus 2 infection were at higher risk of adverse maternal outcomes than low-risk pregnancies complicated by severe acute respiratory syndrome coronavirus 2 infection., (Copyright © 2021. Published by Elsevier Inc.)

These practice guidelines follow the mission of the World Association of Perinatal Medicine in collaboration with the Perinatal Medicine Foundation, bringing together groups and individuals throughout the world, with the goal of improving the ultrasound assessment of the fetal Central Nervous System (CNS) anatomy. In fact, this document provides further guidance for healthcare practitioners for the evaluation of the fetal CNS during the mid-trimester ultrasound scan with the aim to increase the ability in evaluating normal fetal anatomy. Therefore, it is not intended to establish a legal standard of care. This document is based on consensus among perinatal experts throughout the world, and serves as a guideline for use in clinical practice., (© 2021 Walter de Gruyter GmbH, Berlin/Boston.)

Objective: This prospective, non-randomised study documents our initial experience using the Flex ® Surgical System for transoral surgery in Italy., Methods: All patients who underwent transoral robotic surgery using the Medrobotics ® Flex ® Robotic System (Raynham, MA, USA) between March 2018 and April 2019 were reviewed. Rates of successful surgery, surgical time and complications were evaluated. 43 surgical procedures were performed in the study. The average age was 62.56 years (range 36-90 years). The Flex ® system was used successfully in surgery of the base of the tongue, palatine tonsils, supraglottis, hypopharynx and glottis, which was the most frequent target., Results: All procedures were successfully completed. There were no intraoperative or serious postoperative complications, with no cases of intraoperative haemorrhage., Conclusions: This is the first study in Italy evaluating the use of the Flex ® system to safely resect lesions in the oral cavity, larynx and pharynx., (Copyright © 2021 Società Italiana di Otorinolaringoiatria e Chirurgia Cervico-Facciale, Rome, Italy.)

Objectives To evaluate the strength of association between maternal and pregnancy characteristics and the risk of adverse perinatal outcomes in pregnancies with laboratory confirmed COVID-19. Methods Secondary analysis of a multinational, cohort study on all consecutive pregnant women with laboratory-confirmed COVID-19 from February 1, 2020 to April 30, 2020 from 73 centers from 22 different countries. A confirmed case of COVID-19 was defined as a positive result on real-time reverse-transcriptase-polymerase-chain-reaction (RT-PCR) assay of nasal and pharyngeal swab specimens. The primary outcome was a composite adverse fetal outcome, defined as the presence of either abortion (pregnancy loss before 22 weeks of gestations), stillbirth (intrauterine fetal death after 22 weeks of gestation), neonatal death (death of a live-born infant within the first 28 days of life), and perinatal death (either stillbirth or neonatal death). Logistic regression analysis was performed to evaluate parameters independently associated with the primary outcome. Logistic regression was reported as odds ratio (OR) with 95% confidence interval (CI). Results Mean gestational age at diagnosis was 30.6±9.5 weeks, with 8.0% of women being diagnosed in the first, 22.2% in the second and 69.8% in the third trimester of pregnancy. There were six miscarriage (2.3%), six intrauterine device (IUD) (2.3) and 5 (2.0%) neonatal deaths, with an overall rate of perinatal death of 4.2% (11/265), thus resulting into 17 cases experiencing and 226 not experiencing composite adverse fetal outcome. Neither stillbirths nor neonatal deaths had congenital anomalies found at antenatal or postnatal evaluation. Furthermore, none of the cases experiencing IUD had signs of impending demise at arterial or venous Doppler. Neonatal deaths were all considered as prematurity-related adverse events. Of the 250 live-born neonates, one (0.4%) was found positive at RT-PCR pharyngeal swabs performed after delivery. The mother was tested positive during the third trimester of pregnancy. The newborn was asymptomatic and had negative RT-PCR test after 14 days of life. At logistic regression analysis, gestational age at diagnosis (OR: 0.85, 95% CI 0.8-0.9 per week increase; p<0.001), birthweight (OR: 1.17, 95% CI 1.09-1.12.7 per 100 g decrease; p=0.012) and maternal ventilatory support, including either need for oxygen or CPAP (OR: 4.12, 95% CI 2.3-7.9; p=0.001) were independently associated with composite adverse fetal outcome. Conclusions Early gestational age at infection, maternal ventilatory supports and low birthweight are the main determinants of adverse perinatal outcomes in fetuses with maternal COVID-19 infection. Conversely, the risk of vertical transmission seems negligible.

Objective: To examine the incidence and type of chromosomal abnormalities in fetuses with first trimester ultrasound anomalies and a low-risk cfDNA test for common trisomies., Methods: In 486 singleton pregnancies undergoing invasive testing after combined screening, a detailed first trimester ultrasound assessment was carried out and a maternal blood sample was sent for cfDNA analysis. Ultrasound and cfDNA data were analyzed in relation to fetal karyotype., Results: Invasive testing demonstrated a chromosomal abnormality in 157 (32.3%) of 486 fetuses. In 348 cases with a low-risk cfDNA test for common trisomies, NT ≥ 3.5 mm and/or a major structural defect were observed in 92 (26.4%) fetuses. A chromosomal abnormality was found in 17 (18.5%; 95%CI 10.55-26.41) of these pregnancies, including 1 (1.1%) case of trisomy 21 and 16 (17.4%) fetuses with abnormalities different from common trisomies. The respective incidence in the 256 cases with a low-risk cfDNA test result and no ultrasound anomalies was 2.3% (95% CI 0.49-4.20; n = 6)., Conclusions: In fetuses with first trimester ultrasound anomalies and a low-risk cfDNA result for trisomy 21, 18 and 13, diagnostic testing should be offered with the main objective to detect chromosomal abnormalities beyond common trisomies., (© 2020 John Wiley & Sons Ltd.)

The standard treatment of Sudden Sensorineural Hearing Loss is based on oral steroids. In addition, intratympanic steroid is currently used in patients who fail to respond to oral treatment. The aim of the present study was to evaluate, in patients affected by SSHL, factors that influence the response to systemic and intratympanic steroid treatment. A retrospective analysis was conducted on 149 patients, all treated with systemic steroids. Moreover, patients not responsive to systemic therapy were treated with intratympanic steroids as salvage therapy. Auditory gain was assessed through the recovery rate at the discharge and after 30 days. Statistical analysis demonstrated that patients with delayed treatment and down-sloping auditory curve presented a poor recovery. Linear and stepwise regression showed that hypertriglyceridemia and hyperglycemia were negative prognostic factors. The prognosis of SSHL is affected by hyperglycemia and hypertriglyceridemia suggesting that a microvascular dysfunction within the cochlea could impair hearing recovery. Intratympanic steroid treatment was used as salvage treatment, however in patients with poor prognostic factors or at risk for side effects, it could be used in association with systemic treatment., Competing Interests: Conflict of interest: the authors declare no potential conflict of interests., (©Copyright: the Author(s).)

Objectives: To examine the evolution of tetralogy of Fallot (TOF) and outlet ventricular septal defect (VSD) with anterior malalignment (am) from the initial diagnosis at early fetal echocardiography through the gestation and to evaluate the impact of the first-trimester scan on the outcome., Methods: We identified cases of TOF or outlet VSD with am diagnosed before 16 weeks' gestation. For all cases, prenatal data and pregnancy outcomes were evaluated. In continuing pregnancies, the evolution in severity of the disease was assessed., Results: Fifty-one fetuses with TOF or outlet VSD with am were diagnosed at early fetal echocardiography. Parents opted for termination of pregnancy in all 23 cases associated with additional anomalies. In 2 of 28 continuing pregnancies, there was an intrauterine death. In the remaining 26, there was progression in severity in 7 (by 20-22 weeks in 3 cases and during the third trimester in the remaining 4)., Conclusions: TOF and outlet VSD with am diagnosed before 16 weeks' gestation can progress in severity throughout pregnancy in over one-quarter of cases. In addition, a high proportion of cases diagnosed in the first trimester may have associated extracardiac anomalies, with a significant impact on clinical management and on the rate of early termination of pregnancy., (© 2020 S. Karger AG, Basel.)

Purpose: The evaluation of Health-Related Quality of Life (HRQoL) in patients with chronic otitis media COM has gained attention over the past years and several questionnaires have been developed to evaluate it in affected patients. The Chronic Otitis Media Questionnaire 12 (COMQ-12) is a widely used disease-specific tool that evaluates the severity of symptoms, the specific impact on work and lifestyle, the effects on the health service, and general impact of the disease in patients with COM. The COMQ-12 questionnaire has been translated and validated into different languages; however, an Italian version is not yet available. The aim of this original study was to translate the COMQ-12 questionnaire into the Italian language and validate this new Italian language version in Italian-speaking patients with COM., Methods: The COMQ-12 was translated into Italian (COMQ-12-It) following international guidelines. Validation was performed comparing and correlating COMQ-12-It with (1) a question that addresses HRQoL, and (2) the results of a generic questionnaire assessing HRQoL, namely the EQ-5D-5L questionnaire., Results: Forty-eight patients with COM were included in the study. Cronbach's alpha was 0.80 indicating a high reliability. There was a strong positive correlation between the question that directly addressed HRQoL and total score (correlation coefficient = 0.62), while the regression analysis between total score of COMQ-12-It and EQ-5D-5L showed a positive relation but only a weak positive correlation (correlation coefficient 0.36)., Conclusions: Our study showed evidence that the Italian version of the COMQ-12 questionnaire is a valid and reliable tool to evaluate HRQoL in Italian-speaking patients with COM.

Background: The role of the first-trimester scan has expanded from aneuploidy screening to the diagnosis of fetal malformations. Abnormal appearance of the posterior brain at 11-14 weeks gestation is a marker of cerebral anomalies; in fact an increased amount of fluid, particularly when the choroid plexus of the fourth ventricle is not visible and only 2 brain spaces instead of 3 are seen, may indicate the presence of cystic or cyst-like posterior fossa anomalies, such as Blake's pouch cyst or Dandy-Walker malformation., Objective: The purpose of this study was to assess the role of ultrasound scanning in the identification of cystic posterior fossa anomalies at 11-14 weeks gestation., Study Design: A prospective cohort study of fetuses with cystic appearance of the posterior fossa at 11-14 weeks gestation was performed. In all cases and in a control group of 40 normal fetuses, the brainstem-tentorium angle was also measured. The presence or absence of cystic posterior anomalies was determined at birth or at postmortem evaluation., Results: In the period 2014-2018, 32 fetuses with an increased brainstem-occipital bone distance and/or failure to visualize the choroid plexus of fourth ventricle (2 brain spaces) were seen. Of these, 18 fetuses were terminated in the first trimester because of associated anomalies and were excluded from the study because of unavailable autoptic findings. The remaining 14 fetuses eventually were found to have a Dandy-Walker malformation in 4 cases, a Blake's pouch cyst in 8 cases, and normal brain anatomy in 2 cases. Two brain spaces were seen in all cases with Dandy-Walker malformation and in 2 of 8 cases with Blake's pouch cyst. Both brainstem-occipital bone measurement and brainstem-tentorium angle were significantly different in fetuses with Dandy-Walker malformation, Blake's pouch cyst, and control subjects (P<.0001). The brainstem-occipital bone z-scores of fetuses with Dandy-Walker malformation and Blake's pouch cyst were always +3 or more and +1.7 or more, respectively. The brainstem-tentorium angle z-scores were always -5 or less and -0.1 or less, respectively., Conclusion: Our study confirms that sonography of the posterior brain at 11-14 weeks gestation allows the identification of cystic posterior fossa anomalies. A large brainstem-occipital bone predicts Dandy-Walker malformation or Blake's pouch cyst. The presence of 2 brain spaces and a small brainstem-tentorium angle are correlated significantly with the presence of Dandy-Walker malformation., (Copyright © 2019 Elsevier Inc. All rights reserved.)

Objective: There are no instruments available to comprehensively assess health-related quality of life (HRQoL) in chronic otitis media (COM) in Italian-speaking countries. The Zurich chronic middle ear inventory (ZCMEI-21) is a well-established instrument for the assessment of HRQoL in COM. The objective of this study was to translate and cross-culturally adapt the ZCMEI-21 into Italian and validate this questionnaire for measuring HRQoL in patients with COM., Study Design: Prospective multicenter study., Setting: Three University hospitals (northern Italy, central Italy, southern Italy)., Patients: Adult patients suffering from COM (n = 128)., Intervention: Following international guidelines, the ZCMEI-21 was translated into Italian (ZCMEI-21-It). Validation was performed by psychometric test statistics. Moreover, ZCMEI-21-It total and subscale scores were compared and correlated with 1) the scores of the original validation study, 2) to a question that directly addresses HRQoL, and 3) to the scores of the EQ-5D-5L, a generic questionnaire assessing HRQoL., Results: From three study centers, a total of 128 patients with COM were included. Cronbach's α was 0.86 indicating a high reliability. Between the ZCMEI-21-It total score and the question that directly addresses HRQoL, we found a strong correlation (r = 0.62, p < 0.0001). Between the ZCMEI-21-It total score and the EQ-5D-5L scores, we expectedly found moderate correlations (descriptive system score: r = 0.39, p < 0.0001; visual analog scale: r = 0.30, p = 0.008)., Conclusion: We translated the ZCMEI-21 questionnaire into Italian and validated the ZCMEI-21-It in a prospective multicenter study. The ZCMEI-21-It is the first instrument that comprehensively assesses relevant dimensions of HRQoL in Italian-speaking patients affected by COM.

Objective: To evaluate the presence of maxillary gap (MG) and abnormal retronasal triangle (RT) as markers of cleft palate (CP) with and without cleft lip in the first trimester and to assess their association with the type of orofacial cleft (OC)., Methods: The RT and the mid-sagittal view of the face were evaluated retrospectively by two operators in 26 fetuses with OC and in 80 normal controls to detect abnormal RT and/or MG. The agreement between operators was calculated., Results: Amongst the 26 fetuses, there were 15 cases of bilateral, 6 cases of unilateral, and 4 cases of median cleft lip and palate, and 1 case of CP alone. The MG was observed in 18 cases by operator 1 and in 17 cases by operator 2; an abnormal RT was detected in 21 cases by operator 1 and in 22 cases by operator 2. Great agreement between operators was obtained. In controls, MG or abnormal RT was suspected in 6 and 2-4% of cases, respectively., Conclusions: RT seems to be more sensitive compared to MG; however, the latter showed an additional diagnostic ability when the secondary palate was involved. Both approaches in combination could be useful in detecting OC in the first trimester., (© 2019 S. Karger AG, Basel.)

Summary: In case of cholesteatoma with intact ossicular chain, the primary aims of surgery are complete removal of the cholesteatoma matrix and reconstruction of a dry and safe middle ear; if possible, ossicular chain continuity and therefore the preoperative hearing must be preserved. The aim of this retrospective study is to present the experience of the U.O.C. Otorinolaringoiatria Universitaria of University of Bari "Aldo Moro" in treatment of intact ossicular chain cholesteatoma with Bondy modified radical mastoidectomy (BMRM) and canal wall up tympanoplasty (CWUT). The study group was composed of 65 subjects affected by cholesteatoma with intact ossicular chain. Mean age was 40.7 years (range 6-79), with 42 males and 23 females. 30 patients were treated by a BMRM and 35 by CWUT, in 22 cases without mastoidectomy and in 13 cases with mastoidectomy. Mean follow-up was 24.25 months. In the BMRM group, no cases of residual cholesteatoma located in the middle ear space were detected; at follow-up, 1 patient developed a retraction pocket (3.33%), 1 patient showed a small epidermal cysts of the tympanic membrane (3.33%) and 3 patients (10%) experienced otorrhoea. In CWUT, residual cholesteatoma was detected in 2 cases (5.7%); at follow-up, 3 patients presented recurrent cholesteatoma (8.57%; 2, 6 and 8 years after surgery), 3 cases a retraction pocket (8.57%) and one case otorrhoea (2.86%). Statistical analysis showed a significant higher number of residual cholesteatoma in CWUT (p 0.005) and differences in terms of long-term complications. No significant changes in hearing occurred post-operatively or at 1 year follow-up in either group. The current trend in our centre is to perform BMRM when indicated and CWUT preferably without mastoidectomy in case of mesotympanic cholesteatoma with normal OC., (Copyright © 2018 Società Italiana di Otorinolaringologia e Chirurgia Cervico-Facciale, Rome, Italy.)

Objective: The aim of the study was to evaluate the feasibility of obtaining the three-vessel and trachea view (3VTV) in an unselected population undergoing first trimester screening for aneuploidy, and to investigate its role in the early detection of congenital heart defects (CHD)., Methods: Cardiac examination was performed by expert sonographers. Abnormal findings of 3VTV were classified in three different subgroups: number, size and spatial relationship of the vessels., Results: We enrolled 6350 consecutive singleton pregnancies and included 5343 cases. Examination of 3VTV was feasible in 94% of cases. Fifty-seven (1%) CHD were present in the study period; 24 cases were excluded because parents opted for termination of pregnancy. Of the remaining 33 cases, 25 were suspected at the first trimester and eight were detected only at the mid-trimester. An abnormal 3VTV was suspected in 22 cases, and it was confirmed in 21. Five cases that were erroneously classified in the subgroup of abnormal vessel number were actually characterized by a diminutive size of one of the great arteries. The detection rate for CHD, including 4-CV and 3VTV, was 75.8%., Conclusions: Our study demonstrates that 3VTV is an easy plane to obtain by expert sonographers in an unselected population during first trimester. Typical suspicions include detection of abnormal number, size or spatial relationship of the vessels. © 2017 John Wiley & Sons, Ltd., (© 2017 John Wiley & Sons, Ltd.)

Objective: To assess the risk of 22q11.2 deletion in fetuses with a prenatal diagnosis of right aortic arch without intracardiac anomalies (RAA-no ICA)., Methods: This was a retrospective study of all fetuses with RAA-no ICA diagnosed prenatally at three referral centers, between 2004 and 2014. A detailed sonographic examination was performed in each case, including visualization of the thymus and of the head and neck vessels to identify the presence of an aberrant left subclavian artery (ALSA). Karyotyping and fluorescence in situ hybridization analysis for diagnosis of 22q11.2 deletion were always offered either prenatally or postnatally. Clinical and echocardiographic examinations were performed in livebirths and a postmortem examination in cases of termination of pregnancy., Results: During the study period, 85 fetuses were diagnosed prenatally with RAA-no ICA. Genetic or clinical data were not available for three cases and these were excluded from analysis. 22q11.2 deletion was found in 7/82 cases (8.5% (95% CI, 3.8-17.3%)). The thymus was small or non-visualized in all seven cases and additional abnormal sonographic findings were present in four., Conclusion: 22q11.2 deletion is present in a clinically significant proportion of fetuses with a prenatal diagnosis of RAA-no ICA. In such cases, a detailed sonographic examination, with assessment of the thymus in particular, may be useful to further define the level of risk for 22q11.2 deletion. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd., (Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd.)

Objective: The objective of this study was to investigate a strategy for clinical implementation of cell-free DNA (cfDNA) testing in high-risk pregnancies after first-trimester combined screening., Methods: In 259 singleton pregnancies undergoing invasive testing after first-trimester combined screening, a maternal blood sample was sent to the laboratory Natera for cfDNA testing using a single-nucleotide polymorphism-based methodology., Results: The cfDNA test provided a result in 249 (96.1%) pregnancies and, among these, identified as being at high risk 35 of 36 cases of trisomy 21, 13 of 13 with trisomy 18, five of five with trisomy 13 and three of four with sex chromosome aneuploidies. A policy of performing an invasive test in women with a combined risk of ≥1 in 10 or NT ≥4 mm and offering cfDNA testing to the remaining cases would detect all cases of trisomy 21, 18 or 13, 80% of sex aneuploidies and 62.5% of other defects and would avoid an invasive procedure in 82.4% of euploid fetuses., Conclusion: In high-risk pregnancies after combined screening, a policy of selecting a subgroup for invasive testing and another for cfDNA testing would substantially reduce the number of invasive procedures and retain the ability to diagnose most of the observed aneuploidies., (© 2016 John Wiley & Sons, Ltd.)

Objective: The aim of this retrospective study was to describe the sonographic appearance of the posterior brain anatomy in normal fetuses at 11 to 14 weeks of pregnancy and to determine the fetal outcome when one of the posterior brain anatomical space is not recognized., Methods: Two groups of patients were included in the study: a control group of consecutive 311 healthy fetuses with a normal sonogram and a study group of 21 fetuses with absence of one of the three posterior brain spaces. In each fetus, images of the mid-sagittal view of the fetal face and brain at 11 to 14 weeks of gestation were obtained., Results: In all fetuses with absence of one of the three posterior brain spaces, a severe anomaly, including open spina bifida, cephalocele, Dandy-Walker complex, and chromosomal aberrations, was associated., Conclusion: Our study indicates that the sonographic finding characterized by the absence of one of the three posterior brain spaces seems to facilitate not only the detection of open spina bifida, as previously reported, but also of other neural tube defects, such as cephalocele, and is an important risk factor for cystic posterior brain anomalies, and/or chromosomal abnormalities. Thus it seems a poor prognostic finding for major fetal abnormalities., (© 2015 John Wiley & Sons, Ltd.)