Fifteen-minute consultation: Prevention and treatment of chickenpox in newborns.

There are inconsistencies in how newborns are managed following exposure to varicella, ranging from reassurance and observation to administration of varicella zoster immunoglobulin (VZIG) and admission to hospital for varying length courses of intravenous aciclovir.Hospitalised preterm babies exposed to varicella should receive VZIG. Administration can otherwise be limited to pregnant non-immune women or to newborns if there is development of maternal chickenpox from 5 days prior to delivery up to 48 hours postdelivery. Intravenous aciclovir is only recommended in cases of newborn disease despite VZIG or in severe disease. The use of VZIG may not prevent varicella but may reduce severity of disease.In this article, we review the evidence for risk to non-immune mothers, the fetus and newborns who had different types of exposure to varicella, with recommendations for management and treatment of confirmed neonatal chickenpox.

Cardiac-associated biliary atresia (CABA): a prognostic subgroup.

OBJECTIVES: To describe the range of concurrent cardiac malformations in biliary atresia (BA) while providing a functional framework of risk. METHODS: Demographic and variables were collected from a prospectively maintained single-centre database. Infants were grouped according to a cardiac functional framework (A=acyanotic, B=cyanotic and C=insignificant shunt). Primary outcome was set as clearance of jaundice (bilirubin ≤20 µmol/L) following Kasai portoenterostomy (KPE). Native liver survival and overall actuarial survival were compared with a date-matched control infant with BA (n=77). P value <0.05 was regarded as significant. RESULTS: 524 infants with histologically confirmed BA were treated between January 1999 and December 2018, 37 (7%) had a concurrent cardiac anomaly (A: n=23 (62%), B: n=10 (27%), C: n=4 (11%)). Infants with biliary atresia splenic malformation (BASM) or cat-eye syndrome (CES) contributed over half of the cases (21/37; 57%).Overall, 20 (54%) infants cleared jaundice (vs 50/77 (65%) controls; p=0.2), but with higher mortality compared with the non-cardiac controls (15/37 (40%) vs 3/77 (4%); HR 15.5 (95% CI 5.5 to 43.4); p<0.00001). Infants requiring cardiac intervention in the first year of life (n=15) were more likely to clear jaundice (6/7 vs 2/8; p=0.04) and had a trend towards higher survival (6/7 vs 3/8; p=0.1) when KPE followed cardiac surgery. Yet, the type of cardiac pathology did not impact clearance of jaundice or mortality. CONCLUSION: We propose the term cardiac-associated biliary atresia (CABA) as a high-risk group. We believe that restorative cardiac surgery should precede KPE wherever possible to improve outcome.

School absence and achievement in children with isolated orofacial clefts.

OBJECTIVES: To examine school absence and academic achievement among 7-year-old children with isolated orofacial clefts in England. DESIGN: Analysis of educational data linked to national cleft registry and administrative hospital data. SETTING: English state schools. PATIENTS: 3523 children with isolated clefts aged 7 years between 2006 and 2014. MAIN OUTCOME MEASURES: Annual school absence and reaching the national 'expected level' according to teacher-assessed academic achievement. RESULTS: Children with isolated clefts had higher mean annual school absence (10.5 days) than their peers in the national population (8.9 days). Total absence was higher in children with a cleft lip and palate (CLP; 11.3 days) or with a cleft palate only (CPO; 10.5 days) than in children with a cleft lip only (CLO; 9.5 days). The percentage reaching the expected academic level decreased with increasing school absence (from 77.4% (923/1192) with annual school absence ≤5 days to 43.4% (193/445) with annual school absence >20 days). However, differences in school absence did not explain that children with CPO (65.9% reaching expected level) or CLP (66.1% reaching expected level) had poorer levels of academic achievement than children with CLO (73.5% reaching expected level). Children with a cleft were twice as often recognised as having special education needs (40.5%) than their peers (21.6%). CONCLUSIONS: School absence and cleft type are both independently associated with school attainment at 7 years. Children with an isolated cleft, especially when the palate is involved, and those with high levels of school absence may benefit from increased support addressing their educational needs.

Postnatal impact of a prenatally diagnosed double aortic arch.

BACKGROUND: A double aortic arch (DAA) is increasingly identified before birth; however, there are no published data describing the postnatal outcome of a large prenatal cohort. OBJECTIVE: To describe the associations, symptoms and impact of prenatally diagnosed DAA. METHODS: Retrospective review of consecutive cases seen at two fetal cardiology units from 2014 to 2019. Clinical records including symptoms and assessment of tracheobronchial compression using flexible bronchoscopy were reviewed. Moderate-severe tracheal compression was defined as >75% occlusion of the lumen. RESULTS: There were 50 cases identified prenatally and 48 with postnatal follow-up. Array comparative genomic hybridisation (aCGH) was abnormal in 2/50 (4%), aCGH was normal in 33/50 (66%) and of those reviewed after birth, 13 were phenotypically normal. After birth, there was a complete DAA with patency of both arches in 8/48 (17%) and in 40/48 (83%) there was a segment of the left arch which was a non-patent, ligamentous connection.Stridor was present in 6/48 (13%) on the day of birth. Tracheo-oesophageal compressive symptoms/signs were present in 31/48 (65%) patients at median age of 59 days (IQR 9-182 days). Tracheal/carinal compression was present in 40/45 (88%) cases. Seven of 17 (41%) asymptomatic cases demonstrated moderate-severe tracheal compression. All morphologies of DAA caused symptoms and morphology type was not predictive of significant tracheal compression (p=0.3). CONCLUSIONS: Genetic testing should be offered following detection of double aortic arch. Early signs of tracheal compression are common and therefore delivery where onsite neonatal support is available is recommended. Significant tracheal compression may be present even in the absence of symptoms.

Stop, think SCORTCH: rethinking the traditional 'TORCH' screen in an era of re-emerging syphilis.

BACKGROUND: The epidemiology of congenital infections is ever changing, with a recent resurgence in syphilis infection rates seen in the UK. Identification of congenital infection is often delayed; early recognition and management of congenital infections is important. Testing modalities and investigations are often limited, leading to missed diagnostic opportunities. METHODS: The SCORTCH (syphilis, cytomegalovirus (CMV), 'other', rubella, toxoplasmosis, chickenpox, herpes simplex virus (HSV) and blood-borne viruses) acronym increases the awareness of clinicians to the increased risk of congenital syphilis, while considering other infectious aetiologies including: zika, malaria, chagas disease, parvovirus, enterovirus, HIV, hepatitis B and C, and human T-lymphotropic virus 1, in addition to the classic congenital infections recognised in the 'TORCH screen' (toxoplasmosis, 'other', rubella, CMV, HSV). The SCORTCH diagnostic approach describes common signs present in infants with congenital infection, details serological testing for mother and infant and important direct diagnostics of the infant. Direct diagnostic investigations include: radiology, ophthalmology, audiology, microbiological and PCR testing for both the infant and placental tissue, the latter also warrants histopathology. CONCLUSION: The traditional 'TORCH screen' focuses on serology-specific investigations, often omits important direct diagnostic testing of the infant, and fails to consider emerging and re-emerging congenital infections. In recognition of syphilis as a re-emerging pathogen and the overlapping clinical presentations of various infectious aetiologies, we advocate for a broader outlook using the SCORTCH diagnostic approach.

Lifestyle and sociodemographic risk factors for gastroschisis: a systematic review and meta-analysis.

BACKGROUND: Gastroschisis is strongly associated with young maternal age. This association suggests the need for further investigations on non-genetic risk factors. Identifying these risk factors is a public health priority in order to develop prevention strategies aimed at reducing the prevalence and health consequences in offspring. OBJECTIVE: To systematically assess and quantitatively synthesise the available epidemiological studies to evaluate the association between non-genetic risk factors and gastroschisis. METHODS: Literature from PubMed, EMBASE and Scopus was searched for the period 1990-2018. Epidemiological studies reporting risk estimates between lifestyle and sociodemographic risk factors and gastroschisis were included. Two pairs of reviewers independently extracted information on study characteristics following Preferred Reporting Items for Systematic Reviews and Meta-Analyses and MOOSE (Meta-analysis Of Oservational Studies in Epidemiology) guidelines. Relative risk (RR) estimates were calculated across the studies and meta-analysis was performed using random-effects model. RESULTS: We identified 58 studies. Meta-analyses were conducted on 29 studies. Maternal smoking (RR 1.56, 95% CI 1.40 to 1.74), illicit drug use (RR 2.14, 95% CI 1.48 to 3.07) and alcohol consumption (RR 1.40, 95% CI 1.13 to 1.70) were associated with an increased risk of gastroschisis. A decreased risk among black mothers compared with non-Hispanic white mothers (RR 0.49, 95% CI 0.38 to 0.63) was found. For Hispanic mothers no association was observed. CONCLUSIONS: Exposure to smoking, illicit drugs and alcohol during pregnancy is associated with an increased risk of gastroschisis. A significantly decreased risk for black mothers was observed. Further epidemiological studies to assess the potential role of other environmental factors are strongly recommended. PROSPERO REGISTRATION NUMBER: CRD42018104284.

Investigating the use of ultrasonography for the antenatal diagnosis of structural congenital anomalies in low-income and middle-income countries: a systematic review.

BACKGROUND: Congenital anomalies are the fifth leading cause of under-5 mortality globally. The greatest burden is faced by those in low/middle-income countries (LMICs), where over 95% of deaths occur. Many of these deaths may be preventable through antenatal diagnosis and early intervention. This systematic literature review investigates the use of antenatal ultrasound to diagnose congenital anomalies and improve the health outcomes of infants in LMICs. METHODS: A systematic literature review was conducted using three search strings: (1) structural congenital anomalies; (2) LMICs; and (3) antenatal diagnosis. The search was conducted on the following databases: Medline, Embase, PubMed and the Cochrane Library. Title, abstract and full-text screening was undertaken in duplicate by two reviewers independently. Consensus among the wider authorship was sought for discrepancies. The primary analysis focused on the availability and effectiveness of antenatal ultrasound for diagnosing structural congenital anomalies. Secondary outcomes included neonatal morbidity and mortality, termination rates, referral rates for further antenatal care and training level of the ultrasonographer. Relevant policy data were sought. RESULTS: The search produced 4062 articles; 97 were included in the review. The median percentage of women receiving an antenatal ultrasound examination was 50.0% in African studies and 90.7% in Asian studies (range 6.8%-98.8%). Median detection rates were: 16.7% Africa, 34.3% South America, 34.7% Asia and 47.3% Europe (range 0%-100%). The training level of the ultrasound provider may affect detection rates. Four articles compared morbidity and mortality outcomes, with inconclusive results. Significant variations in termination rates were found (0%-98.3%). No articles addressed referral rates. CONCLUSION: Antenatal detection of congenital anomalies remains highly variable across LMICs and is particularly low in sub-Saharan Africa. Further research is required to investigate the role of antenatal diagnosis for improving survival from congenital anomalies in LMICs. PROSPERO REGISTRATION NUMBER: CRD42019105620.

Congenital duodenal obstruction in the UK: a population-based study.

OBJECTIVE: Congenital duodenal obstruction (CDO) comprising duodenal atresia or stenosis is a rare congenital anomaly requiring surgical correction in early life. Identification of variation in surgical and postoperative practice in previous studies has been limited by small sample sizes. This study aimed to prospectively estimate the incidence of CDO in the UK, and report current management strategies and short-term outcomes. DESIGN: Prospective population-based, observational study for 12 months from March 2016. SETTING: Specialist neonatal surgical units in the UK. MAIN OUTCOME MEASURES: Incidence of CDO, associated anomalies and short-term outcomes. RESULTS: In total, 110 cases were identified and data forms were returned for 103 infants giving an estimated incidence of 1.22 cases per 10 000 (95% CI 1.01 to 1.49) live births. Overall, 59% of cases were suspected antenatally and associated anomalies were seen in 69%. Operative repair was carried out mostly by duodenoduodenostomy (76%) followed by duodenojejunostomy (15%). Postoperative feeding practice varied with 42% having a trans-anastomotic tube placed and 88% receiving parenteral nutrition. Re-operation rate related to the initial procedure was 3% within 28 days. Two infants died within 28 days of operation from unrelated causes. CONCLUSION: This population-based study of CDO has shown that the majority of infants have associated anomalies. There is variation in postoperative feeding strategies which represent opportunities to explore the effects of these on outcome and potentially standardise approach. Short-term outcomes are generally good.

Perinatal stabilisation of infants born with congenital diaphragmatic hernia: a review of current concepts.

Congenital diaphragmatic hernia (CDH) is associated with high mortality rates and significant pulmonary morbidity, mainly due to disrupted lung development related to herniation of abdominal organs into the chest. Pulmonary hypertension is a major contributor to both mortality and morbidity, however, treatment modalities are limited. Novel prenatal and postnatal interventions, such as fetal surgery and medical treatments, are currently under investigation. Until now, the perinatal stabilisation period immediately after birth has been relatively overlooked, although optimising support in these early stages may be vital in improving outcomes. Moreover, physiological parameters obtained from the perinatal stabilisation period could serve as early predictors of adverse outcomes, thereby facilitating both prevention and early treatment of these conditions. In this review, we focus on the perinatal stabilisation period by discussing the current delivery room guidelines in infants born with CDH, the physiological changes occurring during the fetal-to-neonatal transition in CDH, novel delivery room strategies and early predictors of adverse outcomes. The combination of improvements in the perinatal stabilisation period and early prediction of adverse outcomes may mitigate the need for specific postnatal management strategies.

Epidemiology of congenital cerebral anomalies in Europe: a multicentre, population-based EUROCAT study.

OBJECTIVES: To describe the epidemiology and geographical differences in prevalence of congenital cerebral anomalies in Europe. DESIGN AND SETTING: Congenital cerebral anomalies (International Classification of Diseases, 10th Revision code Q04) recorded in 29 population-based EUROCAT registries conducting surveillance of 1.7 million births per annum (29% of all European births). PARTICIPANTS: All birth outcomes (live births, fetal deaths from 20 weeks gestation and terminations of pregnancy after prenatal diagnosis of a fetal anomaly (TOPFA)) from 2005 to 2014. MAIN OUTCOME MEASURES: Prevalence, proportion of associated non-cerebral anomalies, prenatal detection rate. RESULTS: 4927 cases with congenital cerebral anomalies were identified; a prevalence (adjusted for under-reporting) of 9.8 (95% CI: 8.5 to 11.2) per 10 000 births. There was a sixfold difference in prevalence across the registries. Registries with higher proportions of prenatal diagnoses had higher prevalence. Overall, 55% of all cases were liveborn, 3% were fetal deaths and 41% resulted in TOPFA. Forty-eight per cent of all cases were an isolated cerebral anomaly, 25% had associated non-cerebral anomalies and 27% were chromosomal or part of a syndrome (genetic or teratogenic). The prevalence excluding genetic or chromosomal conditions increased by 2.4% per annum (95% CI: 1.3% to 3.5%), with the increases occurring only for congenital malformations of the corpus callosum (3.0% per annum) and 'other reduction deformities of the brain' (2.8% per annum). CONCLUSIONS: Only half of the cases were isolated cerebral anomalies. Improved prenatal and postnatal diagnosis may account for the increase in prevalence of congenital cerebral anomalies from 2005 to 2014. However, major differences in prevalence remain between regions.

Incidence of disorders of sexual development in neonates in Ghana: prospective study.

OBJECTIVE: The incidence of disorders of sexual development (DSD) is unknown in sub-Saharan Africa. We describe the characteristics and incidence of DSD in a cohort of infants born in Ghana. DESIGN: Trained research assistants performed systematic genital examination at birth. All infants with suspected abnormal genitalia were further examined by a paediatric endocrinologist. SETTING: Komfo Anokye Teaching Hospital, Kumasi, Ghana. PATIENTS: Consecutive infants born in a single centre over a 1-year period (May 2014 to April 2015). MAIN OUTCOME MEASURES: Incidence of DSD. Micropenis was defined as a stretched length <2.1 cm and clitoromegaly as a clitoral length >8.6 mm. RESULTS: We examined 9255 infants (93% of all live births) within 72 hours of birth. Twenty-six neonates had a DSD. Nineteen infants had DSD without genital ambiguity: isolated micropenis (n=2), hypospadias (n=7), cryptorchidism (n=4) and clitoromegaly (n=6). Seven infants had DSD with ambiguity: clitoromegaly with a uterus on ultrasound and elevated 17-hydoxyprogesterone, suggesting XX DSD due to congenital adrenal hyperplasia (CAH)(n=4) and micropenis, hypospadias and gonads in a bifid scrotum or in the inguinal region, consistent with XY DSD (n=3). CONCLUSION: The incidence of atypical genitalia was 28/10,000 (95% CI 17/10 000 to 39/10 000) live births. The incidence of CAH was 4.3/10 000 (95% CI 1.2/10 000 to 11.1/10 000) and was strongly associated with consanguinity.