Contraception during Coronavirus-Covid 19 pandemia. Recommendations of the Board of the Italian Society of Contraception.

Purpose: The Italian Society of Contraception identified as one of its priorities the need to give recommendations on management of contraception during Coronavirus-Covid 19 pandemiaMaterials and methods: A concise communication was produced which summarises in an easy-to-read format suitable for clinicians the management of the different contraceptives mostly used. Information how to manage contraception in different conditions is presented.Results: Women may, in general, continue to use either intrauterine and or hormonal contraceptives. The use of condom should be added to any hormonal contraceptive, when the contraceptive efficacy is reduced or when women stop the contraceptive method.Conclusion: At the present time, during the Coronavirus-Covid 19 pandemia, no data contraindicate the use of intrauterine or hormonal contraceptives. Conversely the use of an appropriate contraception is advocate to prevent unintended pregnancies.

Cost-effectiveness analysis of Daclatasvir/Sofosbuvir for the treatment of the HCV patients failed after the first line with second generation of DAAs in Italy.

BACKGROUND: Daclatasvir (DCV) combinated with Sofosbuvir (SOF) has shown good efficacy and safety profile for HCV patients. The aim was to evaluate the cost-effectiveness of DCV/SOF regimen versus HCV alternative treatments for patients who failed to achieve the SVR12 after a first DAA treatment from Italian perspective (PITER cohort). METHODS: A Markov model of HCV chronically infected patients was used to develop two scenarios: 1) DCV+ SOF versus Ledipasvir (LDV)+ SOF in Genotype (Gt)1 and Gt4; 2) DCV+ SOF versus no retreatment option in Gt1, Gt3, and Gt4. The percentage of patients who failed the first line with SOF/Simeprevir/Ribavirin (RBV) or SOF/RBV and were retreated or not according to evidences from PITER cohort, were used to populate the model. HCV resources consumption and SVR rates were quantified using PITER data. Transition probabilities and utility rates were derived from the literature. The outcomes were expressed in terms of Quality adjusted life years (QALYs). Probabilistic sensitivity analysis (PSA) was performed considering a cost-effectiveness threshold of € 30,000/QALY. RESULTS: In the base-case analysis, DCV+ SOF represents a cost-effectiveness therapy with ICERs lower than the threshold. The PSA showed robust results, ICERs remain below the threshold in 94% and 99% simulations in Scenario 1 and 2, respectively.

One-step transvaginal three-dimensional hysterosalpingo-foam sonography (3D-HyFoSy) confirmation test for Essure® follow-up: a multicenter study.

OBJECTIVE: To evaluate, in patients who underwent Fallopian-tube sterilization by hysteroscopic insertion of an Essure® device, the feasibility and accuracy of three-dimensional (3D) transvaginal sonography (TVS) to check the position of the device and 3D hysterosalpingo-foam sonography (3D-HyFoSy) using contrast-enhanced gel foam to assess consequent tubal occlusion. METHODS: This was a prospective multicenter study conducted from June 2012 to July 2014 in four Italian centers, which included 50 women who underwent hysteroscopic Essure microinsert placement in a total of 95 Fallopian tubes. Placement of the microinserts was performed in an outpatient setting following standard procedure recommendations. All patients underwent transvaginal 3D-HyFoSy and hysterosalpingography (HSG) approximately 12-14 weeks after the procedure. The position of the devices was first checked on 3D-TVS and classified according to specific criteria (Positions A, B, C and D). Then, 3D-HyFoSy with ExEm® gel foam as the ultrasound contrast agent was performed to confirm tubal occlusion by the absence of contrast agent within the tubes and/or around the ovaries. To evaluate the feasibility of 3D-HyFoSy, consecutive volume acquisitions were performed while injecting the gel foam. After sonographic evaluation, women underwent HSG to assess the success of sterilization, as standard methodology. Side effects and pain evoked during and after 3D-HyFoSy and HSG were evaluated using a numeric pain rating scale. RESULTS: On 3D-TVS, 10 devices (10.5%) were in Position A, two (2.1%) in Position B, 59 (62.1%) in Position C and 24 (25.3%) in Position D. During 3D-HyFoSy, tubal occlusion was observed in 89 of 95 tubes (93.7%). In the six cases in which the passage of the contrast was observed, one device (16.7%) was in Position B, one device (16.7%) in Position D and four devices (66.7%) were found to lie in Position C. Tubal patency was confirmed at HSG with a concordance rate of 100%. The mean pain score associated with 3D-HyFoSy was significantly lower than that on HSG. CONCLUSIONS: 3D-TVS with HyFoSy allows accurate assessment of the position of Essure microinserts and tubal occlusion. It can be considered a safe, reliable, non-invasive alternative to HSG. Copyright © 2017 ISUOG. Published by John Wiley & Sons Ltd.

Monurelle Biogel® vaginal gel in the treatment of vaginal dryness in postmenopausal women.

OBJECTIVES: To evaluate efficacy, tolerability and safety of Monurelle Biogel® vaginal gel for treatment of vaginal dryness. METHODS: Multicenter, national, randomized, controlled vs. no-treatment, open-label study. Ninety-five postmenopausal women were randomized (48 to Monurelle Biogel® and 47 to no treatment). Primary endpoint was the change of Verbal Rating Scale (VRS) total score of vaginal atrophy (VA) symptoms after 8-week treatment. The main secondary endpoints were VRS single-item score, Vaginal Health Index (VHI) score, Maturation Index (MI), Female Sexual Function Index (FSFI), and Female Sexual Distress Scale-Revised (FSDS-R). RESULTS: The VRS total score was statistically significant in favor of the treatment group on day 28 (p = 0.001) but not on day 56 (p = 0.064). By excluding women who were not sexually active, the total VRS scores reached the criteria for clinical success in 27/43 subjects (62.8%) in the control arm and in 38/46 subjects (82.6%) in the treatment arm (p = 0.035) on day 56. The VHI score significantly changed in the active arm (4.71 ± 4.85 vs. 0.28 ± 1.71) (p < 0.001) on day 56. Even the MI significantly improved, with an increase in the percentage of superficial cells (p = 0.01). The improvements in both VHI and MI were still present at the follow-up visit after the discontinuation of the treatment (day 84). Sexual function and distress showed a statistical significant difference on day 56. CONCLUSIONS: Monurelle Biogel® vaginal gel applied twice daily for 8 weeks is effective in relieving vaginal dryness and other VA symptoms. Such a clinical meaningful effect persists at least 4 weeks and is supported by an improvement in the vaginal environment. Trial Registration clinicaltrials.gov Identifier: NCT02994342.

Assessment of cardiovascular impairment in obese patients: Limitations and troubleshooting of available imaging tools.

The prevalence and severity of obesity have increased over recent decades, reaching worldwide epidemics. Obesity is associated to coronary artery disease and other risk factors, including hypertension, heart failure and atrial fibrillation, which are all increased in the setting of obesity. Several noninvasive cardiac imaging modalities, such as echocardiography, cardiac computed tomography, magnetic resonance and cardiac gated single-photon emission computed tomography, are available in assessing coronary artery disease and myocardial dysfunction. Yet, in patients with excess adiposity the diagnostic accuracy of these techniques may be limited due to some issues. In this review, we analyze challenges and possibilities to find the optimal cardiac imaging approach to obese population.

Trial-based cost-effectiveness of abatacept for rheumatoid arthritis patients in Italy.

INTRODUCTION: Rheumatoid arthritis (RA) is a chronic, inflammatory disorder leading to disability and reduced quality of life. Effective treatment is a significant economic burden on the Italian healthcare system. Economic models in RA are commonly based on indirect treatment comparisons. METHODS: This study assessed the cost-effectiveness of abatacept relative to adalimumab for RA in Italy based on a head-to-head trial by means of a cost-consequence analysis. RESULTS: Health benefits based on the most stringent efficacy criteria were in favor of abatacept compared to adalimumab. Rates for more costly adverse events were higher for adalimumab compared to abatacept, which was reflected in the lower costs for abatacept (-€237,246 or -€237per patient). CONCLUSION: The health economic value of abatacept compared with adalimumab from the perspective of the Italian NHS depends on the choice of health outcome. Health gains with abatacept were generally based on more stringent criteria and lower total costs.

Hysteroscopic outpatient metroplasty to expand dysmorphic uteri (HOME-DU technique): a pilot study.

The new classification system of uterine anomalies from the European Society of Human Reproduction and Embryology and the European Society for Gynaecological Endoscopy defines T-shaped and tubular-shaped infantilis uteri as 'dysmorphic'. Such malformations have been proven to be associated with poor reproductive performance. A prospective observational study was conducted with 30 infertile women with dysmorphic uterus who underwent the novel Hysteroscopic Outpatient Metroplasty to Expand Dysmorphic Uteri (HOME-DU ) technique. Incisions are made on the uterine walls with a 5 Fr bipolar electrode. The procedure was conducted in outpatients under conscious sedation, using a 5-mm office hysteroscope. The technique was successful in all cases without complications. A net increase of uterine volume was found, as measured at hysteroscopy and three-dimensional transvaginal ultrasound (P < 0.001). Uterine morphology improved in all patients but one. At mean follow-up of 15 months, clinical pregnancy rate was 57% and term delivery rate 65%. These early data support HOME-DU as safe and effective in expanding the volume and normalizing the appearance of the uterine cavity of dysmorphic uteri. Although the cohort was small, pregnancy and live births outcomes were favourable in this poor-prognosis group, implying desirable benefits, which should be compared with other techniques.

A case of ovarian torsion in a patient carrier of a FSH receptor gene mutation previously affected by spontaneous ovarian hyperstimulation syndrome.

We here report a case of ovarian torsion in a patient with an history of two previous episodes of spontaneous ovarian hyperstimulation syndrome during her two pregnancies. A mutation of follicle-stimulating hormone receptor (FSHr) gene was identified in this patient and in other members of the family. Two years after her successful second pregnancy, the patient showed signs of severe thyroiditis during administration of oral contraceptive, with suppressed TSH and increased thyreoglobulin, in the absence of any abnormalities of the auto-antibodies. In few days, she developed severe pelvic pain and ultrasonographic evidence of increased ovarian volume. She underwent laparoscopy with unilateral adnexectomy for ovarian ischemic necrosis due to adnexal torsion. Our experience suggests that patients' carrier of a mutation of FSHr gene are at risk of ovarian pathologies also when non-pregnant and in the presence of low TSH levels. Further investigations are needed for an appropriate knowledge of typical and atypical manifestations of spontaneous ovarian hyperstimulation syndrome.

Probing transport mechanisms of BaFe2As2 superconducting films and grain boundary junctions by noise spectroscopy.

An important step forward for the understanding of high-temperature superconductivity has been the discovery of iron-based superconductors. Among these compounds, iron pnictides could be used for high-field magnet applications, resulting more advantageous over conventional superconductors, due to a high upper critical field as well as its low anisotropy at low temperatures. However, the principal obstacle in fabricating high quality superconducting wires and tapes is given by grain boundaries. In order to study these effects, the dc transport and voltage-noise properties of Co-doped BaFe2As2 superconducting films with artificial grain boundary junctions have been investigated. A specific procedure allows the separation of the film noise from that of the junction. While the former shows a standard 1/f behaviour, the latter is characterized by an unconventional temperature-dependent multi-Lorentzian voltage-spectral density. Moreover, below the film superconducting critical temperature, a peculiar noise spectrum is found for the grain boundary junction. Possible theoretical interpretation of these phenomena is proposed.

Synthetic cyanoacrylic glue in the prevention of post-operative lymphocele after pelvic lymphadenectomy in patients with uterine malignancies: A prospective, single-blind, preliminary study.

OBJECTIVES: Lymphoceles are among the most common post-operative complications of pelvic lymphadenectomy, with a reported incidence of 1% to 29% in gynecology oncology. Several studies evaluated the effectiveness of biological glues on reducing lymphoceles, but no data on gynecological patients are available. We evaluated the effectiveness of cyanoacrylic glues (n-butyl cyanoacrylate) (Glubran 2 - GEM s.r.l., Italy) in preventing lymphocele on 30 patients who underwent pelvic lymphadenectomy for endometrial or cervical cancer. METHODS: Single-blind prospective randomized study. Patients were divided into 2 groups: pelvic lymphadenectomy plus n-butyl cyanoacrylate (treatment group: 44 patients) and pelvic lymphadenectomy without n-butyl cyanoacrylate (control group: 44 patients). Primary endpoint was incidence of pelvic lymphocele in the two groups 30 days after surgery, and evaluated with pelvic ultrasound and RMI examination. Secondary endpoints evaluated drainage volume of lymphorrhea 36, 48, 72 and 96 h after surgery. RESULTS: 15% in the treatment group and 36.6% in the control group had lymphocele 1month after the procedure (p<0.03; RR 0.4 [95% CI 0.152-0.999]). Concerning the secondary outcome in group A the amount of lymphorrhea presented a constant significant decrease during evaluation; on the contrary, in group B, after an initial decrease at 48 h, the amount of lymphorrhea remained unchanged; at all considered times the amount of lymphorrhea resulted significantly greater in controls. CONCLUSION: Intraoperative application of n-butyl cyanoacrylate seems to reduce lymph production after pelvic lymphadenectomy, providing a useful additional treatment option for reducing drainage volume and preventing lymphocele development after pelvic lymphadenectomy.

Reclassification of cardiovascular risk by myocardial perfusion imaging in diabetic patients with abnormal resting electrocardiogram.

BACKGROUND AND AIMS: Despite an extensive use of stress myocardial perfusion single-photon emission computed tomography (MPS), no study addressed the role of perfusion imaging in diabetic patients with abnormal resting electrocardiogram (ECG). We compared analytical approaches to assess the added value of stress MPS variables in estimating coronary heart disease outcomes in diabetic patients with abnormal resting ECG. METHODS AND RESULTS: A total of 416 patients with diabetes and abnormal resting ECG who underwent stress MPS were prospectively followed up after the index study. The end point was the occurrence of a major cardiac event, including cardiac death and nonfatal myocardial infarction. At the end of follow-up (median 58 months), 42 patients experienced events. MPS data increased the predictive value of a model including traditional cardiovascular risk factors and left ventricular (LV) ejection fraction (likelihood ratio χ² from 17.54 to 24.15, p < 0.05, with a C statistic of 0.72, 95% confidence interval: 0.65-0.79). The addition of MPS data resulted in reclassification of 25% of the sample with a net reclassification improvement of 0.20 (95% confidence interval: 0.05-0.36). Overall, 63 patients were reclassified to a lower risk category, with a 5-year event rate of 3.5%, and 40 patients were reclassified to a higher risk category, with a 5-year event rate of 20%. CONCLUSION: The addition of MPS findings to a model based on traditional cardiovascular risk factors and LV ejection fraction improves risk classification for incident cardiac events in diabetic patients with abnormal resting ECG.

Accuracy of neurosonography and MRI in clinical management of fetuses referred with central nervous system abnormalities.

OBJECTIVE: To assess the accuracy of expert neurosonography (two- and three-dimensional NSG) in the characterization of major fetal central nervous system (CNS) anomalies seen at a tertiary referral center and to report the differential clinical usefulness of magnetic resonance imaging (MRI) used as a second-line diagnostic procedure in the same cohort. METHODS: This was a retrospective analysis of all 773 fetuses with confirmed CNS abnormalities referred to our center between 2005 and 2012. The following variables were analyzed: gestational age at NSG and MRI, NSG and MRI diagnoses, indication for MRI (confirmation of NSG findings; diagnostic doubt; search for possible additional brain anomalies), association with other malformations, diagnostic accuracy of NSG vs MRI (no additional clinical value for either MRI or NSG; additional information with clinical/prognostic significance on MRI relative to NSG; additional information with clinical/prognostic significance on NSG relative to MRI, NSG and MRI concordant but incorrect) and final diagnosis, which was made at autopsy or postnatal MRI/surgery. RESULTS: CNS malformations were associated with other anomalies in 372/773 (48.1%) cases and were isolated in the remaining 401 (51.9%) cases. NSG alone was able to establish the diagnosis in 647/773 (83.7%) cases. MRI was performed in 126 (16.3%) cases. The indication for MRI was: confirmation of NSG diagnosis in 59 (46.8%) cases; diagnostic query (in the case of inconclusive or uncertain finding on NSG) in 20 (15.9%) cases; search for possible additional brain anomalies in 47 (37.3%) cases. NSG and MRI were concordant and correct in 109/126 (86.5%) cases. Clinically relevant findings were evident on MRI alone in 10/126 (7.9%) cases (1.3% of the whole population) and on NSG alone in 6/126 (4.8%) cases; in all six of these cases, MRI had been performed at < 24 weeks of gestation. In one case, both NSG and MRI diagnoses were incorrect. The main type of malformation in w ich MRI played an important diagnostic role was space-occupying lesions, MRI identifying clinically relevant findings in 42.9% (3/7) of these cases. CONCLUSIONS: (1) In a tertiary referral center with good NSG expertise in the assessment of fetal CNS malformations, MRI is likely to be of help in a limited proportion of cases; (2) MRI is more useful after 24 weeks of gestation; (3) the lesions whose diagnosis is most likely to benefit from MRI are gross space-occupying lesions.

Agenesis of the fetal corpus callosum: sonographic signs change with advancing gestational age.

OBJECTIVES: To assess the presence and degree of indirect signs of agenesis of the corpus callosum (ACC) according to gestational age and determine the percentage of cases in which each sign is present by 24 gestational weeks. METHODS: We analyzed retrospectively 54 cases of ACC which underwent three-dimensional neurosonography at our unit between January 2005 and December 2012. A single examination was available in 48 cases and six cases were followed up longitudinally, giving a total of 69 examinations. The following variables were assessed: indication for referral, karyotype, width of the atrium and presence/absence of colpocephaly, the cavum septi pellucidi, dorsal cyst and additional central nervous system (CNS) and non-CNS anomalies. RESULTS: Overall, there were 31 cases of complete ACC (cACC, 42 examinations) and 23 cases of partial ACC (pACC, 27 examinations). The mean gestational age was lower in the cases referred because of anomalies other than ACC than it was in those referred because of ventriculomegaly and/or suspicion of ACC (P < 0.05). Atrial width showed a positive linear correlation with advancing gestational age (P < 0.0001); it was < 10.0 mm in 25/34 (73.5%) examinations < 24 gestational weeks and in 9/35 (25.7%) ≥ 24 weeks (P < 0.001). Colpocephaly was present in 20.6% (7/34) of examinations < 24 weeks and in 68.6% (24/35) of those after 23 weeks (P < 0.05). The cavum septi pellucidi was present and visible at least in part in 17 (63%) of the 27 pACC examinations. In nine of the 27 (33.3%) pACC examinations, there was neither ventriculomegaly nor absence of the cavum septi pellucidi. Associated anomalies were present in 25/54 (46.3%) cases, and in 11 these included or consisted of CNS abnormalities. Karyotype was abnormal in seven of the 40 (17.5%) cases in which it was available. CONCLUSIONS: In a significant proportion of cases, most of the indirect signs of ACC are either absent or barely visible at the time of the midtrimester screening ultrasound examination. Therefore, ACC may escape diagnosis at midtrimester screening ultrasound. In particular, a third of examinations in fetuses with pACC may not show any abnormality in the transventricular screening view < 24 weeks. The medicolegal implications of such findings are important and should be considered.

Ultrasound prenatal diagnosis of inguinal scrotal hernia and contralateral hydrocele.

Fetal inguinal scrotal hernia is a rare condition resulting in an abnormal embryonic process of the tunica vaginalis. We report a case of ultrasound prenatal diagnosis of inguinal scrotal hernia associated with contralateral hydrocele in a woman at 37 weeks of gestation, referred to our clinic for a scrotal mass. Differential diagnosis includes hydrocele, teratoma, hemangiomas, solid tumours of testis, bowel herniation, and testicular torsion. Bowel peristalsis is an important ultrasound sign and it allowed us to make diagnosis of inguinal scrotal hernia. Diagnosis was confirmed at birth and a laparoscopic hernia repair was performed without complications on day 10. During surgery, a bilateral defect of canal inguinal was seen and considered as the cause of scrotal inguinal hernia and contralateral hydrocele observed in utero.

'See and treat' outpatient hysteroscopy with novel fibreoptic 'Alphascope'.

This paper describes an experience with the Alphascope, a fibreoptic hysteroscopy system (Gynecare, Ethicon Women's Health and Urology). This prospective observational study was carried out at a tertiary hospital in Naples, Italy. The study population comprised patients undergoing outpatient hysteroscopy with the semi-rigid Versascope Hysteroscopy System using the Alphascope. 7-Fr gauge mechanical instruments and 5-Fr bipolar electrodes (Versapoint, Gynecare, Ethicon Inc., Somerville, NJ) were used for the operative procedures. Outpatient hysteroscopy was successful in 97% of cases. These were diagnostic in 41%, while operative hysteroscopy was performed in 59% of cases. The endoscopic view was subjectively defined by the operator as good/excellent in 95% of procedures. A total of 98% of patients expressed moderate/high degree of satisfaction and only 2% were dissatisfied. The system is successful in the outpatient setting in 95% of attempts.

Quality of life, lifestyle behavior and employment experience: a comparison between young and midlife survivors of gynecology early stage cancers.

GOALS: To evaluate differences and changes in quality of life (QoL), lifestyle behavior and employment experience of young in comparison to midlife adults in response to early stage gynecologic cancer diagnoses. METHODS: 263 patients, divided into two age groups (Group A: ≤ 45 and Group B: >45 years), were interviewed on their QoL, lifestyle behavior (dietary habits, tobacco and alcohol use, physical activity) and employment experience (employment status and working time) at diagnosis and within 4 years from the treatment. The QoL was evaluated by European Organization for Research and Treatment of Cancer (EORTC) Quality of Life Questionnaire C30 (QLQ-C30) and its specific modules for each cancer type (in particular endometrium, cervix, ovarian and breast). RESULTS: Global health status was significantly different between the two groups. In the younger age group a more relevant cancer interference on family life and social activities and a greater impact on perception of health status have been observed. Young women were more affected by fatigue, constipation, gastrointestinal symptoms, lymphedema, poor body image and impaired sexuality. Cancer diagnosis had a major negative impact on employment of younger patients. Conversely, younger patients had overall better health behavior. They reported a higher daily intake of fruits and vegetables, along with lower alcohol consumption, furthermore they were a little more physically active than midlife adults. CONCLUSIONS: To enhance quality of life and to promote healthy lifestyle behavior of female cancer patients, particularly in younger age, it is essential to assure multidisciplinary approaches with specific medical intervention and psychosocial supports. Indeed, midlife adults seem to have a more rapid adaptive tendency to return towards levels of well-being, following cancer diagnosis and treatment, than younger patients.

Abnormal or delayed development of the posterior membranous area of the brain: anatomy, ultrasound diagnosis, natural history and outcome of Blake's pouch cyst in the fetus.

OBJECTIVES: To review the normal and pathological development of the posterior membranous area (PMA) in the fetal brain, to define sonographic criteria with which to diagnose a Blake's pouch cyst (BPC) in the fetus and to review the ultrasound features, associations and outcome of 19 cases of BPC seen at our center over the last 5 years. METHODS: We conducted a MEDLINE search using the terms 'Blake's pouch', with or without 'fourth ventricle' or '4(th) ventricle', with or without 'roof' and identified articles describing normal and/or abnormal development of the PMA, whether or not they were cited in the limited clinical literature on BPC. A description of the normal and abnormal development of BPC was derived by collating these articles. The clinical retrospective study included 19 cases of posterior fossa anomalies with a final diagnosis of BPC seen at our institution. The following variables were assessed: referral indication, gestational age at diagnosis, ultrasound and magnetic resonance imaging (MRI) findings, associated anomalies, natural history and pregnancy and neonatal outcome. A transvaginal three-dimensional (3D) ultrasound examination was performed in all cases and 15 cases underwent MRI. To confirm the diagnosis, postnatal MRI, transfontanellar ultrasound or autopsy were available in all cases. RESULTS: Among the 19 cases reviewed, referral indications were: suspicion of vermian abnormality in 11 (58%) cases and other non-central nervous system anomaly in eight (42%) cases. Sonographically, all cases showed the following three signs: 1) normal anatomy and size of the vermis; 2) mild/moderate anti-clockwise rotation of the vermis; 3) normal size of the cisterna magna. On 3D ultrasound, the upper wall of the cyst was clearly visible in 11/19 cases, with choroid plexuses on the superolateral margin of the cyst roof. On follow-up, the BPC had disappeared by 24-26 gestational weeks in six of the 11 cases which did not undergo termination of pregnancy (TOP), and remained unaltered until birth in the other five cases. There were associated anomalies in eight (42%) cases, in five of which this consisted of or included congenital heart disease. Karyotype was available in 14 cases, two of which were abnormal (both trisomy 21). Regarding pregnancy outcome, there were eight (42%) TOPs, two (10%) neonatal deaths and nine (48%) survivors. One neonate, in whom the BPC had disappeared by the time of birth, had obstructive hydrocephaly confirmed. Another neonate was diagnosed with Down syndrome after birth. Excluding the Down syndrome baby, neurodevelopmental outcome was normal at the time of writing in all eight cases. CONCLUSIONS: Based on our analysis of ultrasound features, we propose that for BPC to be diagnosed in a fetus the following three criteria should be fulfilled: 1) normal anatomy and size of the vermis; 2) mild/moderate anti-clockwise rotation of the vermis; 3) normal size of the cisterna magna. Furthermore, we found that BPC can undergo delayed fenestration at 24-26 weeks in more than 50% of cases. Finally, it seems that BPC shows a risk of association with extracardiac anomalies (heart defects in particular) and, to a lesser extent, trisomy 21.

Aberrant right subclavian artery: incidence and correlation with other markers of Down syndrome in second-trimester fetuses.

OBJECTIVE: To assess the incidence of aberrant right subclavian artery (ARSA) and other strong markers of Down syndrome and their correlation in a large population of second-trimester Down syndrome fetuses assessed in a tertiary referral center. METHODS: Presence or absence of ARSA and other major ultrasound markers of Down syndrome was assessed in a population of 106 second-trimester Down syndrome fetuses referred to our unit for expert assessment and/or termination of pregnancy after karyotyping performed for positive first- or second-trimester screening or advanced maternal age or on maternal request. All cases in which the diagnosis of Down syndrome followed the ultrasound detection of major anomalies or soft markers were excluded from the study, as were all cases with a gestational age less than 14 + 0 weeks. We searched for the ARSA on the three vessels and trachea view using color or power Doppler. All fetuses underwent a thorough anatomic assessment and fetal echocardiography. The other Down syndrome markers assessed were: absent or hypoplastic nasal bone (NB-), defined as length < 5(th) centile; nuchal fold ≥ 5 mm; and mild pyelectasis (> 5 mm). In addition, the presence of major cardiac and extracardiac defects was recorded. A correlation analysis was then performed in order to investigate possible associations between markers and/or major anomalies. Postmortem or postnatal diagnostic confirmation was available in all cases. RESULTS: The mean (SD) gestational age at ultrasound assessment was 20.4 (4.1) weeks. The incidence of the various variables in the population of Down syndrome fetuses was: ARSA, 25%; NB-, 43%; nuchal fold ≥ 5 mm, 16%; pyelectasis, 17%; major heart defects, 41%; atrioventricular septal defect, 25%; and extracardiac anomaly, 24%. The presence of ARSA did not correlate with any of the other variables. The only positive correlations (P < 0.05) were between NB- and pyelectasis, and between cardiac and extracardiac defects. CONCLUSIONS: This represents the largest Down syndrome population assessed for ARSA. In this series, the incidence of ARSA was 25%, lower than previously reported in much smaller series. Its presence did not correlate with the presence of any other marker or major anomaly, including heart defects.