General practitioners' attitudes towards and experiences of using the DermaBuddy health app for the management of patients with dermatological conditions - a descriptive cross-sectional study.

BACKGROUND: Dermatological presentations are common in primary care. The digital health space is growing in investment, revenue and in usership numbers. Doctors utilise mobile Health apps for referencing, communicating and for clinical decision-makin. Dermabuddy is a secure mobile health app by which information and expertise around skin problems can be shared among a group of medical professionals with the aim of finding the best treatment and management plan. AIM: The primary aim of this study is to assess the utility of the DermaBuddy health app for General Practitioners and associated trainees in Ireland. DESIGN & SETTING: This is a descriptive cross-sectional study, which involved a survey link distributed by email. METHOD: General Practitioners were surveyed, on their experiences of using the dermatology mobile application Dermabuddy RESULTS: 203 members took this questionnaire (13.5% response rate). 96% responding to "This app was easy to use" agreed it was easy or very easy. 87% of those who responded to "I would use this app again" agreed they would. 58% of those who responded to "This app is useful for my healthcare practice" gave it a five star rating. The content of 36 comments included advice for improvement and positive feedback. CONCLUSION: The Dermabuddy app is well received by participants in this study. Across all sections of the questionnaire looking at the aspects of the app including ease of use, interface and satisfaction and usefulness there was a positive response. Mobile health apps such as Dermabuddy may provide alternative solutions to meet the rising challenge of managing patients with Dermatological conditions in primary care.

Amelanotic melanoma in a patient with trisomy 21: clinical and dermoscopic presentation.

Amelanotic melanoma is an uncommon form of melanoma; accounting for 2%-8% of all melanoma cases. In the human population, the incidence of melanoma in patients with trisomy 21 is relatively unknown. It is theorised that having an extra copy of chromosome 21 is protective against melanoma development as people with trisomy 21 also carry an extra copy of the genes on that chromosome including any that protect against cancer. A literature review revealed four other reported cases of cutaneous melanoma in persons with trisomy 21. To the authors' knowledge, this is the first case of amelanotic melanoma presenting in a patient with trisomy 21 and the fifth case of melanoma overall reported in a patient with trisomy 21.This case highlights the need for specialist referral of all new skin lesions where the diagnosis is unclear.

The Utility of the Congenital Pulmonary Airway Malformation-Volume Ratio in the Assessment of Fetal Echogenic Lung Lesions: A Systematic Review.

Although relatively uncommon, the incidence of fetal echogenic lung lesions - a heterogeneous group of anomalies that includes congenital pulmonary airway malformations (CPAM) and bronchopulmonary sequestrations (BPS) - has increased recently. Two decades ago, the CPAM-volume ratio (CVR) was first described as a tool to predict the development of hydrops, with this outcome found to be unlikely in fetuses with CVRs of ≤1.6 cm2. Since then, no clear international consensus has evolved as to the optimal CVR thresholds for the prediction of fetal/neonatal outcomes. This systematic review aimed to assess all original research studies that reported on the predictive utility of the CVR. Potentially relevant papers were identified through searching for citations of the paper that originally described the CVR, in addition to keyword searches of electronic databases. Fifty-two original research papers were included in the final review. Of these, 34 used the CVR for descriptive purposes only, 5 assessed the validity of established thresholds in different populations, and 13 proposed new thresholds. The evidence identified in this review would suggest that a threshold much lower than 1.6 cm2 is likely to be of greater utility in most populations for many outcomes of perinatal relevance. For neonatal outcomes (mostly respiratory compromise at birth), a CVR on the initial ultrasound scan ranging from 0.5 to 1.0 cm2 appears to have the greatest predictive value. Although a number of studies concurred that 1.6 cm2 was a useful threshold for the prediction of hydrops, many others were unable to assess this due to the rarity of this complication. For this reason, thresholds as low as 0.4 cm2 may be more useful for the prediction of a broader range of fetal concerns, including mediastinal shift and fluid collections. Further large-scale studies are required to determine the true utility of this well-established index.

The Significance of Yolk Sac Number in Monoamniotic Twins.

BACKGROUND: Detection of a single yolk sac on early first trimester ultrasound was previously thought to be a reliable diagnostic feature of monochorionic monoamniotic (MCMA) twin pregnancies. OBJECTIVES: To determine the frequency of two yolk sacs in MCMA twin pregnancies and the association of yolk sac number with pregnancy outcomes. METHODS: A retrospective cohort analysis of MCMA twins managed at a tertiary obstetric centre from January 2003 until February 2017. All MCMA twin pregnancies were diagnosed on tertiary centre ultrasound and, where possible, placental histopathology postnatally. All MCMA twin pregnancies, including conjoined twins, with available first trimester ultrasounds from 5 to 11 weeks' gestation were included in the analysis. MCMA pregnancies without available first trimester ultrasounds and triplet pregnancies which included a MCMA pair were excluded from the study. RESULTS: Sixty-seven MCMA cases were identified over 14 years. Thirty-eight cases were included in the analysis. There was one yolk sac identified in 26 cases (68%) and two yolk sacs in 12 cases (32%). Two yolk sacs were associated with a higher proportion of male fetuses (33%, 4 out of 12, vs. 8%, 2 out of 26; p = 0.01). There were no other significant differences between one and two yolk sacs for maternal or neonatal outcomes. CONCLUSIONS: Two yolk sacs are present in up to a third of all MCMA twin pregnancies, dispelling the original concept that a single yolk sac is diagnostic of MCMA pregnancies. Yolk sac number should not be used to determine amnionicity. The presence of two yolk sacs on first trimester ultrasound is associated with an increased rate of male fetuses. The number of yolk sacs has no other significant impact on perinatal outcomes.

Antenatal assessment and postnatal outcome of fetal echogenic lung lesions: a decade's experience at a tertiary referral hospital.

INTRODUCTION: Fetal echogenic lung lesions (ELL) are the commonest pulmonary pathology diagnosed on antenatal sonography, and include congenital pulmonary airway malformations (CPAMs) and bronchopulmonary sequestrations. This study aimed to evaluate the predictive utility of the CPAM volume ratio (CVR) at presentation in a series of fetuses with ELLs at a tertiary Australian referral hospital. MATERIAL AND METHODS: Retrospective cohort study of all pregnancies with a prenatal diagnosis of an isolated fetal echogenic lung lesion managed at the Royal Women's Hospital, Victoria, Australia, between 2005 and 2015. Data were obtained from electronic ultrasound image databases and medical records. RESULTS: Sixty-five cases were included in the final analysis. The mean gestation at presentation was 22 weeks and 6 d, and the mean CVR was 0.66. Hydrops was evident in four cases at presentation, and did not develop subsequently in any other case. Significant perinatal concerns - fetal/neonatal demise, hydrops, requirement for neonatal intubation/ventilation, or surgery in the first year of life - did not occur with or following a CVR at presentation of <0.45. The survival rate at 1 year was 95%. DISCUSSION: The CVR is a potentially useful tool to assess all fetal ELLs, and not just those presumed to be CPAMs. A CVR at presentation of <0.45 was associated with favourable outcomes.

Cesarean Scar Pregnancies: Incidence and Factors Associated with Conversion to Surgery from Medical Management.

STUDY OBJECTIVE: To describe the incidence, management, and complications of cesarean scar pregnancy (CSP) and define risk factors for conversion from medical to surgical treatment of CSP. DESIGN: Retrospective clinical study (Canadian Task Force classification II-3). SETTING: Tertiary medical center. PATIENTS: All patients who were admitted and treated for CSP between 2008 and 2016. INTERVENTIONS: The cohort was divided according to management, and demographic, clinical, and sonographic data were collected. Rates of conversion were compared between groups, and risk factors necessitating conversion were sought. MEASUREMENTS AND MAIN RESULTS: Forty-six cases of CSP were identified. The incidence of CSP has increased from 0.05% to 0.09% of all deliveries. A regression model for absolute numbers of CSP predicted an additional 0.47 CSP each year (p = .03). The most common treatment modalities were systemic treatment with methotrexate (28.2%) and ultrasound-guided intrasac injection of KCl with systemic treatment of methotrexate (58.7%). The mean sac diameter (MSD) of cases that were converted was 11.2 mm larger than in cases that were not converted (p < .001). No patients with an MSD <10 mm or a trophoblastic mass <20 mm3 were converted to surgical management. Maximal levels of beta human chorionic gonadotropin (ß-hCG) were significantly associated with the risk of conversion. Only 6.3% of patients with a ß-hCG level <10,000 IU at presentation were converted from medical to surgical management. There was no significant association between fetal cardiac activity and conversion from medical to surgical management. CONCLUSIONS: CSP has emerged as an important phenomenon in modern obstetrics and gynecology, and its frequency appears to be on the rise. The preferred method of treatment remains unclear; however, it is possible that a large MSD and trophoblastic mass at presentation should prompt surgical treatment.

Hypoplastic nasal bone: A potential marker for facial dysmorphism associated with pathogenic copy number variants on microarray.

OBJECTIVES: To compare the frequency of abnormal genetic diagnoses spanning a period before and after the availability of chromosomal microarray analysis (CMA). We hypothesised that microarray would provide additional clinically relevant information in cases of isolated hypoplastic nasal bone. METHOD: Fetuses with ultrasound-detected hypoplastic nasal bone (absent or <2.5th percentile in length) between 16 and 37 weeks' gestation over a 10-year period were analysed retrospectively. RESULTS: A total of 118 cases of hypoplastic nasal bone met the inclusion criteria. A pathogenic or potentially pathogenic karyotype was detected more frequently in the era where CMA was available (31/60, 52% vs 19/58, 33%). Of these, 25 cases (42%) had common aneuploidies, and six cases (10%) had clinically relevant copy number variants (CNVs). A clinically relevant CNV was detected in two fetuses that presented with isolated hypoplastic nasal bone on initial ultrasound. CONCLUSION: In addition to its known association with trisomy 21, a hypoplastic nasal bone may be an objective marker of facial dysmorphism associated with clinically relevant CNVs. Our results support consideration of invasive testing with microarray for pregnancies in which a hypoplastic nasal bone has been diagnosed on ultrasound irrespective of a low-risk screening result for common chromosomal abnormalities.

Single Intrauterine Death in Twins: The Importance of Fetal Order.

Perinatal mortality is higher in twins. Effects of twin order have not previously been studied in the context of single fetal demise. Our objective was to determine whether death of the fetus more proximal to the cervix will result in worse perinatal outcomes. Our population included multiple pregnancies with two viable fetuses confirmed prior to 20 weeks' gestation with the subsequent death of at least one twin. All the pregnancies were managed at The Royal Women's Hospital, Melbourne between 2006 and 2014. We excluded pregnancies of higher order multiples, the death of both twins simultaneously, and cases with incomplete outcome data. Maternal and neonatal data were reviewed. Of 46 pregnancies included, in 24 (52%), the dead twin was presenting. Gestational age at delivery was significantly earlier in these cases (mean difference: -5.0 weeks, 95% CI [-7.4, -2.6], p < .001), and emergency cesarean rates were higher 67% versus 32% (OR 4.29, 95% CI [1.25, 14.7], p = .02). There were no differences in the frequency of chorioamnionitis, preterm prelabor rupture of membranes, or placental abruption. Survival rates for co-twins were similar in both groups (presenting 83%; not presenting 91%; OR 0.41, 95% CI [0.07, 2.50], p = .29). The increase in neonatal morbidities was related to prematurity rather than to order. Findings were more common in dichorionic twins. Analysis was limited by a small sample size. If the dead twin is presenting, delivery is likely to occur earlier, with associated morbidity for the survivors. This is especially relevant for dichorionic twin pregnancies.

Outcome of Twin Pregnancies Complicated by a Neural Tube Defect.

Twin pregnancies discordant for neural tube defects (NTD) is a management dilemma. Risks of preterm delivery from polyhydramnios must be balanced with the risks of selective termination (ST) of the anomalous fetus. We investigated the prevalence of twin pregnancies discordant for NTD and the rate of pregnancy complications in our institution over a 10-year period. Cases were obtained by searching the hospital ultrasound database and findings were confirmed by expert review of ultrasound images. Outcomes of ST and expectant management were assessed. Each unaffected co-twin was assigned to three consecutive twin pregnancy controls matched by chorionicity and maternal age. Primary outcome was birth before 34 weeks' gestation. Secondary outcomes were small for gestational age, mode of delivery, neonatal unit admission, and neonatal death. In total, 13 pregnancies were identified as potential cases. Of these, 11 were included in the analysis: 9 dichorionic diamniotic and 2 monochorionic diamniotic twins. Seven cases had ST and four were managed expectantly. We found 100% (4/4) of expectantly managed pregnancies delivered <34 weeks compared with 14% (1/7) of the ST group (p = .015). Polyhydramnios complicated three expectantly managed pregnancies and one pregnancy in the ST group. The birthweight SD score of all unaffected co-twins was ≥-2. The case-control analysis showed a higher rate of polyhydramnios in twin pregnancies discordant for NTD compared with controls, but little evidence for differences between groups in delivery rates <34 weeks, birthweight, neonatal unit admission, or neonatal death. ST warrants serious consideration to avoid potential complications to the unaffected co-twin.

Chorionic villus sampling in the cell-free DNA aneuploidy screening era: careful selection criteria can maximise the clinical utility of screening and invasive testing.

OBJECTIVES: To quantify the impact of cell-free DNA (cfDNA) screening on chorionic villus sampling (CVS) test indications and outcomes in a tertiary maternity service. METHODS: Retrospective cohort study of all CVS procedures performed for any indication on singleton pregnancies at The Royal Women's Hospital, Melbourne, and at Women's Ultrasound Melbourne, Australia, between August 2008 and February 2015. Karyotypes were classified according to pathogenicity and detectability by standard cfDNA screening panels. RESULTS: A total of 2051 CVS procedures, 25 373 twelve-week scans and 2394 cfDNA tests were performed. The CVS rate per 12-week scan fell from 9.8 to 3.9% following introduction of cfDNA screening. The yield of pathogenic chromosomal anomalies per CVS increased from 12.9 to 25.2%, with 70% of pathogenic results now comprising T21, up from 52%. Sixteen (5.3%) of the pathogenic chromosomal abnormalities identified on CVS would not have been predicted by current cfDNA tests. CONCLUSIONS: There is an evolving tension between improved screening performance for common aneuploidies offered by cfDNA testing, and the increasing diagnostic utility of molecular karyotyping. However, the risk of not identifying pathogenic chromosomal abnormalities is low if cfDNA screening is offered in the absence of a structural fetal anomaly, increased nuchal translucency or relevant family history. © 2017 John Wiley & Sons, Ltd.

The Outcome of Monochorionic Diamniotic Twins Discordant at 11 to 13+6 Weeks' Gestation.

BACKGROUND: Monochorionic diamniotic (MCDA) twin pregnancies are associated with adverse perinatal outcome. Intertwin discordances at the time of nuchal translucency (NT) screening may have a value in the prediction of fetal loss or twin-to-twin transfusion syndrome. We aimed to determine the ability of intertwin NT and crown rump length (CRL) discordances among MCDA twins to predict adverse outcomes. MATERIAL AND METHODS: All MCDA twins with a documented routine ultrasound at 11 to 13+6 weeks' gestation, and known pregnancy outcome between August 2003 and August 2012 were included. Receiver operating characteristic curves were used to determine the ideal NT and CRL discordances cut-off points that maximized the ability to predict adverse outcome, which was defined as any of: death of one or both twins, twin-to-twin transfusion syndrome, or estimated fetal weight or birth weight discordances ≥25%. RESULTS: Of the 89 cases, 20 (22.5%) had at least one adverse outcome. NT discordance was more discriminatory of adverse outcome than was CRL discordance. The optimal values for predicting any adverse outcomes for NT were >23.7% and for CRL >3.5%. The positive predictive values for NT (52.4%) and CRL (29.8%) screening were relatively low; however, the lack of either NT or CRL discordances was more reassuring, with negative predictive values of 86.8% and 86.4%, respectively. CONCLUSIONS: NT discordance is more predictive for adverse fetal outcome in MCDA twins than CRL discordance. Neither NT nor CRL discordance are likely to modify the intensive monitoring required for these very high-risk pregnancies.

Congenital Malformations Associated With a Single Umbilical Artery in Twin Pregnancies.

A single umbilical artery (SUA) was identified in 1.5% of twin pregnancies. The presence of a SUA in a twin pregnancy was associated with a 50% incidence of fetal anomalies, many of them complex and severe. The embryology and pathophysiological mechanisms associated with a SUA are reviewed. Aneuploidy is relatively common and should be considered, particularly in the presence of associated anomalies. Fetal growth restriction is frequent and preterm delivery is common.

Triplet pregnancy: is the mode of conception related to perinatal outcomes?

Many triplets are conceived as a consequence of assisted reproductive technology (ART). Concerns have been raised that triplet pregnancies conceived by ART are more complicated than those conceived spontaneously. The purpose of this study was to evaluate all triplet pregnancies managed over a 12-year period to determine if there were any differences in outcome based on the mode of conception. All triplet pregnancies between 1999 and 2011 that reached at least 20 weeks' gestation and that were managed at the Royal Women's Hospital (RWH), Melbourne, Victoria were identified. Maternal and neonatal outcomes were compared between ART conceived and spontaneously conceived triplets. In the study period, 53 sets of triplets managed in our institution met the eligibility criteria. Twenty-five triplet sets were conceived by ART and 28 were conceived spontaneously. More ART conceptions resulted in trichorionic triamniotic (TCTA) triplets than did spontaneous conceptions (p = .015). There were no differences between ART and spontaneously conceived triplets for any of the maternal or neonatal complications studied. Trichorionic (TC) triplets delivered at a later gestation than other triplets: 32.1 (SD 2.9) versus 30.4 (SD 3.9) weeks (p = .08). TC triplets were significantly less likely to die than monochorionic (MC) or dichorionic (DC) triplets: 3/93 (3%) versus 13/66 (20%) (p = .025). In conclusion, triplets conceived by ART are more likely to have TCTA placentation and TCTA triplet sets had lower mortality rates than other triplet combinations. Outcomes for triplets conceived by ART were similar to those of triplets conceived spontaneously.

The Contribution of MRI after Fetal Anomalies Have Been Diagnosed by Ultrasound: Correlation with Postnatal Outcomes.

OBJECTIVE: The aim of this study was to investigate the additional value of fetal magnetic resonance imaging (MRI) in the assessment and management of fetuses with abnormal findings on ultrasound. METHODS: A total of 257 patients who had fetal MRI following the ultrasound diagnosis of a fetal anomaly, or were at high risk, were included. The patients were grouped by referral category for fetal MRI. Fetal MRI was compared to ultrasound in the detection of anomalies, i.e. whether additional findings were identified and if this changed diagnosis, prognosis and management during pregnancy. RESULTS: Ultrasound findings were confirmed on fetal MRI in 89% of the cases. Additional findings were seen with MRI in 28% of all patients. The diagnosis changed in 21% and the prognosis in 19% of the cases. Perinatal management changed in 8%. The antenatal findings were confirmed in all cases that had a postmortem examination following termination of pregnancy. In all the pregnancies that continued to delivery and for which the postnatal outcome is known, the findings correlated in 97% of the cases. CONCLUSION: Fetal MRI provided additional detection of fetal anomalies, leading to a change in diagnosis and prognosis in 19% of the cases. Neonatal and postmortem findings mostly confirmed the fetal MRI diagnosis, suggesting it to be a useful tool for clinical decision making in perinatal management.

Antenatal imaging of anomalies of the corpus callosum: a decade of experience.

PURPOSE: To assess the diagnostic accuracy of antenatal ultrasound and foetal magnetic resonance imaging (FMRI) over the past decade in the diagnosis of anomalies of the corpus callosum in a tertiary referral centre. METHODS: A single tertiary referral centre ultrasound database was searched for cases of suspected callosal anomalies between 2003 and 2012. All subsequent ultrasound scans, MRIs, neonatal imaging, postmortem investigations and birth records were reviewed. Callosal anomalies were classified into isolated or complex based on the presence or absence of accompanying congenital anomalies. RESULTS: Forty-three cases of callosal anomaly were detected; 60 % were investigated by FMRI revealing additional diagnoses in 23 %; half of which were anomalies of cortical development. Of those considered isolated who underwent FMRI, 21 % were diagnosed with additional anomalies, changing the classification to a complex callosal anomaly. CONCLUSION: In cases of callosal anomaly suspected on ultrasound, FMRI provides greater certainty and the potential to identify significant additional anomalies. The additional information may alter or clarify prognosis and help parents to better understand the pathology, allowing for informed decisions about the pregnancy to be made. However, some cases may still be diagnosed with additional anomalies after delivery and parents should be aware of such limitations of antenatal imaging.

Pregnancy prognosis associated with an isolated single umbilical artery in twin pregnancy.

To determine the prognosis of an isolated single umbilical artery (SUA) in a twin pregnancy, we selected twin pregnancies with a second trimester ultrasound diagnosing a SUA in at least one fetus at our tertiary hospital. This was confirmed by placental histopathology or by expert review of ultrasound images. Cases were identified by searching the hospital ultrasound database over a period of 7.5 years. Higher order multiples or coexistent aneuploidy or major anomalies were excluded. Each case of an isolated SUA was assigned three consecutive twin pregnancy controls paired for chorionicity and maternal age. Primary outcomes were preterm birth <34 weeks, small for gestational age (SGA) or perinatal death. Other outcomes included antenatal growth restriction, mode of delivery, and admission to neonatal intensive care or special care nursery. Nine pregnancies (18 fetuses) were identified for analysis as cases. Isolated SUA was associated with preterm birth <34 weeks (odds ratio = 12.2; 95% CI = 2.0-75.2; p = .005) but not for SGA. There was also no difference in SGA between the affected twin and its normal co-twin. Perinatal death was increased but after controlling for gestational age and clustering this finding was no longer significant. We conclude that isolated SUA in twins adds a degree of risk to an already high-risk pregnancy but does not increase the need for surveillance for growth restriction.

Perinatal and short-term neonatal outcomes of posterior fossa anomalies.

OBJECTIVE: To describe the perinatal and neonatal outcomes for fetuses with posterior fossa (PF) anomalies - mega-cisterna magna (MCM), persistent Blake's pouch (PBP) or the Dandy-Walker continuum (DWC) - using a new classification. METHODS: 46 cases with PF anomaly diagnosed on ultrasound (US) between 16 and 28 weeks' gestation were included. The images were reviewed and classified as one of the following: MCM, PBP or DWC. Outcomes were obtained from patient records. RESULTS: 30 cases with DWC, 6 with MCM, and 10 with PBP were identified. Associated anomalies were present in all groups, but more frequent in DWC. Agenesis of the corpus callosum and ventriculomegaly were more common in DWC than in MCM or PBP. Only fetuses with DWC were found to have chromosomal abnormalities. Perinatal outcomes differed significantly, with terminations of pregnancy more frequent in DWC. In the immediate postnatal period, infants with DWC had worse outcomes than those with MCM and PBP. Across all groups, those with associated anomalies had worse outcomes than those with an isolated PF anomaly. CONCLUSION: Infants antenatally diagnosed with DWC had worse perinatal and short-term neonatal outcomes than those with MCM or PBP. Those with associated anomalies had uniformly poorer outcomes than those with isolated anomalies.

The outcome of twin pregnancies discordant for trisomy 21.

The management of twin pregnancies discordant for trisomy 21 is dependent on the gestation at diagnosis, chorionicity, and parental preference. Our experience with the management of 15 cases in 1,839 twin pregnancies over a 12-year period is described. Selective termination is not always associated with a successful outcome for the normal co-twin. Two of the three monochorionic twin pregnancies affected by trisomy 21 were discordant. Amniocentesis should be strongly considered rather than chorionic villus sampling in monochorionic twin pregnancies. Pregnancies that continue with a trisomy 21 affected fetus are at risk of polyhydramnios and premature labor.