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The radiograph is a cost-effective and minimally invasive testing mechanism used to assist clinicians in the diagnosis of many diseases that affect the newborn. However, radiographic interpretations can differ between radiologists and clinicians. The interpretation of findings is most accurate when considered in the context of the patient's clinical presentation, symptoms, and test results. This column presents readers with a basic approach to reading a radiograph as well as a guide to interpreting both chest and abdominal x-rays. [ABSTRACT FROM AUTHOR]

Pregnant women and their infants are a vulnerable but neglected population in tuberculosis (TB) control efforts. Recent advances in TB prevention, diagnosis and treatment have implications for their care, despite their frequent exclusion from research. We have conducted a meta-review of current evidence and clinical guidelines for TB prevention, diagnosis and management in pregnant women and neonates, focusing on review articles published since 2010. The actual burden of TB in pregnancy is unmeasured, but has been estimated at 216,500 cases per year. Although the effect of pregnancy on TB risk is uncertain and controversial, two large whole-of-population studies found that pregnancy was associated with a two- to three-fold increase in risk of TB. Congenital TB is rare but extremely serious. Neonates exposed to TB after delivery will be at high risk of disease, and preventive therapy is recommended once disease has been ruled out. At present, there is limited evidence regarding the performance of different screening strategies for pregnant women, appropriate drug dosing for either pregnant women or neonates, and the safety of most second-line drugs in pregnancy. High quality evidence on these topics is needed, as are detailed guidelines to inform efforts by TB control programs and clinicians working with pregnant women and their infants. [ABSTRACT FROM AUTHOR]

Surgical disease has gained increased attention in recent years as contributing to the substantial global burden of disease. Congenital anomalies and surgically correctable ailments of newborns, such as those affecting the chest and abdomen, often require initial intervention with potential for long-term, disease-free survival. The true prevalence of these conditions, however, and the available resources for their management in low- and middle-income countries are unclear. This chapter provides an overview of congenital abdominal anomalies within the context of low- and middle-income countries, and a practical guide to recognition and initial management of those who present for care. [ABSTRACT FROM AUTHOR]

Highlights • Heart rate asymmetry is significantly affected by stressful stimuli. • Standard descriptors of heart rate asymmetry could be used for detection of neonatal stress. • A newly introduced index of heart rate asymmetry shows promising diagnostic properties for neonatal stress. Abstract The autocorrelation of the heart rate variability is presented by various methods and models, but Poincaré plots remain valuable analytic tools. Heart rate asymmetry analysis (HRA) is used for the quantification of unevenly distributed points above and below the line of identity. The aim of this work is to implement HRA analysis in newborns, to use it as a marker for acute stress. Forty healthy term newborn infants were included in the study. The protocol included two baseline phases, and two stress phases (heel stimulation and heel stick blood sampling), during which the heart rate was measured. Additionally, to the standard HRA indices, a new index (SKG) related to the first differences of the RR interval time series is introduced. A ROC curve analysis was applied to test the diagnostic properties of the asymmetry indices. With AUC significantly different from 0.5, the results show that HRA indices may be used as clinical markers. With higher AUC values (0.906 and 0.785), accuracy (87.5% and 81.3%) and sensitivity (87.5% and 81.3%), the SKG index outperformed the traditional indices. This novel application of HRA shows potential benefit in stress assessment of newborns, and in nonverbal patients in general. [ABSTRACT FROM AUTHOR]

Although congenital diaphragmatic hernia (CDH) primarily presents in either the prenatal or neonatal period, late presentation has a reported incidence of 2.5–25%. This case report describes an 8-month-old-male who presented to the emergency department with dehydration and a 24-h history of bilious emesis. Work-up led to the diagnosis of a left-sided Bochdalek CDH. He subsequently underwent laparoscopic diaphragmatic hernia repair with reduction of near-total length of incarcerated bowel. The patient had an uneventful recovery. Babies born with CDH are typically unstable at birth, and even with repair, the mortality rate remains high. However, in the case of delayed CDH diagnosis where there are no perinatal issues, surgical repair has very high success rates, provided that there are no complications regarding the delay. If there is not a high index of suspicion based on the patient's history and exam, delayed diagnosis and intervention with late CDH presentations can lead to complications which could otherwise be minimized. The purpose of this case report is to raise awareness and contribute to the growing knowledge about delayed CDH presentation among physicians and surgeons to facilitate early diagnosis and care of a morbid yet manageable condition. [ABSTRACT FROM AUTHOR]

In this paper, we discuss the first case with double apple-peel atresia (IIIb + IIIb). At 31 weeks, the female neonate was given birth with body weight of 1662 g. On day 4, the open laparotomy was performed with preoperative diagnosis of intestinal atresia. At laparotomy, the proximal jejunum ended as a blind pouch about 2 cm from the ligament of Treitz. Also, There were two apple-peel shaped small intestine. The one apple-peel intestine was considered to be the middle segment, and it was anastomosed with proximal jejunum and the another apple-peel intestine. Postoperatively, the abdominal distention and the triple-bubble sign continued. As the ‘reverse’ anastomosis of the middle apple-peel segment was suspected, reoperation was performed on day 16. At laparotomy, the mesentery of middle apple-peel segment was twisted, and the ‘reverse’ anastomosis was confirmed. The re-anastomosis of the middle apple-peel segment was performed (apple-peel portion to the proximal jejunum, and the blind pouch to the another apple-peel intestine). After the reoperation, postoperative course was favorable and she was discharged home on day 51. This case suggests that apple peel intestine must locate ‘distal’ to the closed site, even in the ‘double’ apple peel atresia. [ABSTRACT FROM AUTHOR]

Neonatal or infantile uterine prolapse is a quite rare condition and is usually managed with conservative treatment. There is no standard surgical treatment for infantile uterine prolapse, and to the best of our knowledge, only 2 out of 30 patients suffering from it have been reported to undergo surgical repair in English literature since 1961. We here report the first successful case of laparoscopic repair for uterine prolapse in an infant. The patient was a 2-month old girl who had sacral myelomeningocele and Chiari type 2 malformation. She had undergone closure of myelomeningocele and ventriculoperitoneal shunting within 6 weeks after birth. At 7 weeks of age, the rectum and the uterus prolapsed, and the prolapse gradually deteriorated. Conservative treatments including repeated digital reduction, use of ointment and glycerin enema, and placement of a Foley catheter into the vagina were not effective. At the age of 100 days, she underwent laparoscopic hysteropexy and rectopexy. Three ports were placed on the umbilicus and the bilateral abdomen, and the bilateral mesovaria were sutured to the anterior abdominal wall to improve the visualization of the pelvis. The rectum and the uterine body were directly sutured to the sacral promontory with 2 non-absorbable braided sutures each, not using mesh prosthesis. The postoperative course was uneventful and neither uterine nor rectal prolapse has recurred for 2.5 years. We plan to follow up the patient for a long period since the long-term prognosis is not known. [ABSTRACT FROM AUTHOR]

The triad of deficient abdominal wall musculature, undescended testes and urinary tract anomalies characterizes the Prune Belly Syndrome (PBS). PBS can be associated with other comorbid urological and non urological conditions. But the full pathogenesis and best treatment is still a matter of debate. A term newborn with a classical PBS (Woodhouse Group 2, Smith and Woodard Group 2) plus lung hypoplasia and funnel chest deformity, a megapenis with a tight phimosis and an obturated anterior urethra is presented. Unfortunately, the baby died in urosepsis and renal failure in his 3rd week of life, despite urine drainage surgery and peritoneal dialysis undertaken. According to the best of our knowledge, this is an unique combination of rare anomalies in PBS patients. [ABSTRACT FROM AUTHOR]

Congenital heart disease (CHD) is the most common congenital anomaly in the United Kingdom (UK). Despite major advances in diagnosis and management over the last decade, CHD remains a leading cause of infant morbidity and mortality. Current existing screening tools fail to identify up to 50% of children with CHD before discharge from hospital. Pulse oximetry screening has been well studied and seems a promising screening tool. Combined use of pulse oximetry with fetal anomaly screening and routine newborn examination could detect the majority of critical CHDs in asymptomatic infants. Notably pulse oximetry screening has yet to be incorporated as part of universal screening programme in the United Kingdom. Echocardiography remains the gold standard investigation but is not always available. Chest X-rays and four limb blood pressures are of limited diagnostic value while electrocardiogram helps in only few diagnoses during infancy. A detailed history and thorough clinical examination are of paramount significance in suspected CHD in infants. As the clinical presentation can mimic or overlap with other common conditions in infancy (sepsis, respiratory or metabolic condition), a high index of suspicion with a systematic approach is vital for the timely diagnosis and management. [ABSTRACT FROM AUTHOR]

The article focuses on challenges to newborn screening programs, a public health program and legislation and governmental policies regulating these programs in the U.S. Topics discussed include parental informed consent required in the newborn screening program, the history of genetic testing as well as newborn screening programs, and various aspects of newborn screenings. It also mentions disadvantages related to newborn screening programs.

A meconium pseudocyst is rare and may result in the death o f the neonate. Meconium pseudocysts should be distinguished from the cystic-type meconium peritonitis because of their differences in the treatment strategy. Various studies have reported the radiographic and sonographic findings of a meconium peritonitis. However, computed tomography (CT) findings of meconium pseudocyst have been rarely reported yet. In this report we present the CT findings of a patient with a meconium pseudocyst. Such CT findings may help in the proper diagnosis and to distinguish the cystic-type meconium peritonitis from the meconium pseudocyst. [ABSTRACT FROM AUTHOR]

Abstract: Background: Hypoxic ischemic encephalopathy may result in many neurological deficits. It is crucial to make early diagnosis and assess the prognosis correctly. Aims: We aimed to determine the factors to evaluate the prognosis of hypoxic ischemic encephalopathy. Methods: Electroencephalography, neuroimaging, periodic neurological exams and a developmental test at 44–48 months after discharge from the hospital were performed on twenty five term newborn infants with clinical evidence of hypoxic ischemic encephalopathy. Results: Normal/mildly abnormal neonatal electroencephalography correlated with favorable outcome, particularly if neuroimaging was normal. The cranial MRI sensitivity was 83.3%, while the specificity was 57.9%, the positive predictive value was 38.5%, and the negative predictive value was 91.6%. Moderate/severely abnormal electroencephalography and multifocal/diffuse cortical or deep gray matter lesions correlated with poor outcome. Conclusions: Newborn infants with hypoxic ischemic encephalopathy should be treated in neonatal intensive care units, assessed with periodic neurological examination, electroencephalogram and brain imaging. This would help to initiate early intervention and improve the outcome of patients. [Copyright &y& Elsevier]

Neonatal Screening (NBS) is a mass screening, secondary prevention policy aimed at detecting one or several often congenital disorders in all neonates in a given country. The French CF NBS programme is completely functional since the middle of 2003. Drawing its inspiration from the socio-material approach, this article advances a description and analysis of the interactions between the biomedical technologies used in neonatal cystic fibrosis screening and the resulting changes in clinical practice, the bioethical debate and finally in the interstice between voluntary individual consent to screening and the management of a population’s health. The analysis grid focuses on four dimensions: institutional, techno-scientific, regulatory and socio-professional. Backed up by a field survey conducted in the specialised healthcare centres, this study explores two major aspects of the repercussions of NBS: first, the genesis and institutionalisation of this public policy and the impact of a more flexible form of Evidence Based Medicine (EBM) and the sustained controversy on the neonatal screening programme uniting the community of cystic fibrosis paediatrics. This study suggests that institutional stability remains fragile and in this respect constitutes a paradoxical form of production with incompleteness and uncertainty as constituting factors. [ABSTRACT FROM AUTHOR]

Objective: We sought to review the natural history, pathophysiology, diagnosis, and treatment options for twin-twin transfusion syndrome (TTTS). Methods: A systematic review was performed using MEDLINE database, PubMed, EMBASE, and Cochrane Library. The search was restricted to English-language articles published from 1966 through July 2012. Priority was given to articles reporting original research, in particular randomized controlled trials, although review articles and commentaries also were consulted. Abstracts of research presented at symposia and scientific conferences were not considered adequate for inclusion in this document. Evidence reports and guidelines published by organizations or institutions such as the National Institutes of Health, Agency for Health Research and Quality, American College of Obstetricians and Gynecologists, and Society for Maternal-Fetal Medicine were also reviewed, and additional studies were located by reviewing bibliographies of identified articles. Consistent with US Preventive Task Force guidelines, references were evaluated for quality based on the highest level of evidence, and recommendations were graded accordingly. Results and Recommendations: TTTS is a serious condition that can complicate 8-10% of twin pregnancies with monochorionic diamniotic (MCDA) placentation. The diagnosis of TTTS requires 2 criteria: (1) the presence of a MCDA pregnancy; and (2) the presence of oligohydramnios (defined as a maximal vertical pocket of <2 cm) in one sac, and of polyhydramnios (a maximal vertical pocket of >8 cm) in the other sac. The Quintero staging system appears to be a useful tool for describing the severity of TTTS in a standardized fashion. Serial sonographic evaluation should be considered for all twins with MCDA placentation, usually beginning at around 16 weeks and continuing about every 2 weeks until delivery. Screening for congenital heart disease is warranted in all monochorionic twins, in particular those complicated by TTTS. Extensive counseling should be provided to patients with pregnancies complicated by TTTS including natural history of the disease, as well as management options and their risks and benefits. The natural history of stage I TTTS is that more than three-fourths of cases remain stable or regress without invasive intervention, with perinatal survival of about 86%. Therefore, many patients with stage I TTTS may often be managed expectantly. The natural history of advanced (eg, stage ≥III) TTTS is bleak, with a reported perinatal loss rate of 70-100%, particularly when it presents <26 weeks. Fetoscopic laser photocoagulation of placental anastomoses is considered by most experts to be the best available approach for stages II, III, and IV TTTS in continuing pregnancies at <26 weeks, but the metaanalysis data show no significant survival benefit, and the long-term neurologic outcomes in the Eurofetus trial were not different than in nonlaser-treated controls. Even laser-treated TTTS is associated with a perinatal mortality rate of 30-50%, and a 5-20% chance of long-term neurologic handicap. Steroids for fetal maturation should be considered at 24 0/7 to 33 6/7 weeks, particularly in pregnancies complicated by stage ≥III TTTS, and those undergoing invasive interventions. [Copyright &y& Elsevier]

Purpose: Current management strategies for prenatal torsion include observation alone, delayed contralateral orchiopexy and emergent contralateral orchiopexy. Bilateral torsion is now being reported with more frequency and approximately a third of these patients have asynchronous torsion. We highlight the role of scrotal exploration in neonates diagnosed with bilateral asynchronous testicular torsion. Materials and Methods: We reviewed the clinical experience from 2000 to present of 2 senior pediatric urologists to identify cases of bilateral perinatal testicular torsion. Asynchronous torsion was identified by the varying physical findings of each testicle at exploration. A literature review was done to evaluate the evolving management of perinatal testicular torsion. Results: Six cases of bilateral perinatal torsion were identified since 2000. In 3 of the 6 cases extravaginal torsion of the contralateral testis was incidentally identified at surgical exploration. All 3 testes had normal Doppler flow before exploration. Testicular salvage was not successful in the 2 patients with bilaterally absent blood flow on newborn ultrasound. The 3 cases of incidentally diagnosed contralateral torsion and 1 of preoperatively diagnosed contralateral torsion were successfully salvaged. Thus, 4 of 6 patients with bilateral torsion were left with 1 viable testis. Conclusions: Physical examination findings and radiography can be inaccurate to assess the contralateral testis in males born with prenatal torsion. We have adopted the strategy of emergent surgical exploration in cases of prenatal torsion. Using this approach anorchia was minimized in patients with bilateral asynchronous torsion. [ABSTRACT FROM AUTHOR]

Abstract: Bacterial infections can be a devastating complication in the newborn and continue to be a significant cause of mortality and long-term morbidity of hospitalized newborns and premature infants. The diagnosis of neonatal sepsis is difficult to establish and remains a challenge for neonatal health care providers. Early signs and symptoms of neonatal sepsis are often nonspecific and easily confused with conditions that are expected in this population. Neonatal care providers have evaluated numerous tests searching for one that would be helpful in the diagnosis of neonatal sepsis, one that quickly confirms the diagnosis, and one that conclusively rules it out. This article examines the tests in current use and some of the more recent diagnostic markers used alone or in combination to improve sensitivity and specificity for early detection of sepsis. [Copyright &y& Elsevier]

Copyright of Archives of Cardiovascular Diseases is the property of Elsevier B.V. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Background: Recent advances in multi-slice computed tomography (MSCT) and three-dimensional computed tomography (3D CT) provide good-resolution images and short scan time for complete diagnosis of congenital heart disease (CHD). In the present study, we found that MSCT rapidly provides clinically relevant information for diagnosing extracardiac vascular anatomy in neonates with CHD. It is less invasive, necessitating only minimum or no sedation and a relatively small amount of contrast material. These advantages are crucial, especially for critically ill neonates. Methods: Between January 2007 and December 2008, MSCT scans were conducted on 41 neonates who were admitted to our neonatal intensive care unit. All the neonates were suspected to have complex CHD after an initial echocardiography examination. The scans were focused on detecting extracardiac vascular anatomy and abnormalities. All the image data sets were sent to image processing workstations for multiplanar interactive viewing and 3D reconstruction. Results: High-resolution MSCT scan images were obtained from 41 patients. Reported indications and findings of extracardiac abnormalities and related structural anatomy pertaining to congenital heart disease from MSCT and 3D CT findings were confirmed by clinical and surgical findings by a team of multidisciplinary congenital heart disease specialists. Conclusion: Based on clinical and surgical confirmation of the MSCT scan results from a multidisciplinary congenital heart disease specialist team, we concluded that adequate information on CHD, specifically that regarding extracardiac abnormalities of the anatomy, can be obtained and MSCT can be used to replace cardiac catheterization. [ABSTRACT FROM AUTHOR]

Copyright of Radiologia Brasileira is the property of Radiologia Brasileira and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Radiologia Brasileira is the property of Radiologia Brasileira and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Summary: Developmental Hemostasis refers to the age-related changes in the coagulation system that are most marked during neonatal life and childhood. An understanding of these changes is crucial to the accurate diagnosis of hemostatic abnormalities in neonates and children. This paper explains the current understanding of developmental hemostasis and describes the common pitfalls observed in clinical practice through failure to implement the principles into routine diagnostic work. Finally, there is a brief discussion as to a potential physiological rationale for developmental hemostasis and the implications of this for hemostatic interventions in neonates and children. There remains a need for further study to improve our understanding of the implications of developmental hemostasis in normal growth and development. [Copyright &y& Elsevier]

Abstract: Aim: To assess the efficacy of the perimortem protocol in neonates with suspected inborn errors of metabolism (IEM). Methods: Retrospective analysis of medical records from January 2000 through December 2007 was performed. Only neonates (≤1 month of life) in whom the perimorterm protocol was applied were included in the study. The samples were collected following the instructions of our exitus kit, which contains the perimortem protocol and the material for the extraction of biological specimens. Results: Among the 42 neonates studied, in 28 an IEM was suspected during hospitalization and 15 (36%) were diagnosed with IEM. Mitochondrial disorders were the most frequent diagnosis (8 patients), followed by urea cycle disorders (3 patients), organic acidemias (2 patients), one patient with congenital disorder of glycosylation (CDG type Ia), and one patient with molybdenum cofactor deficiency. Sepsis and other life-threatening conditions appeared to have a biochemical profile very similar to IEM. Conclusion: This protocol was especially useful for collecting all biological samples in patients with rapidly fatal evolution with a non-specific diagnostic suspicion, and to collect special tissues in previously diagnosed patients. However, only the combination of clinical and biochemical data could lead to a diagnosis which would be confirmed by enzymatic/genetic studies. [Copyright &y& Elsevier]

The article explores the use of a sweat chloride test in newborn screening for cystic fibrosis.

Abstract: Neonatal screening for haematological disorders has advanced over the last decade in England, with the phased implementation of a universal screening programme for the detection of sickle cell disease. Glucose-6-phosphate dehydrogenase deficiency and haemoglobin H disease are included in the universal newborn screening programmes in some parts of the world. Selective screening for haematological diseases should be considered in neonates with unexplained or prolonged hyperbilirubinaemia. Additionally, selective screening for haemostatic disorders is recommended in neonates at risk of hereditary bleeding disorders, although the majority of haemostatic abnormalities detected in the newborn are acquired. This review will give an introduction to the above disorders and discuss the role and procedures in place for newborn screening. [Copyright &y& Elsevier]

Abstract: Aim: This article aims to provide the reader with an insight into the diagnosis and management of limb ischaemia presenting in neonates and infants by examining the published literature. Materials and methods: A Pubmed search and an Ovid Medline/Embase search were both performed. The keywords were: ‘neonatal’ or ‘paediatric’ or ‘pediatric’ and ‘limb’ and ‘ischemia’ or ‘ischaemia’ and relevant articles were retrieved and analysed. Articles pertaining to children over the age of 3years and non-English literature articles were excluded. [Copyright &y& Elsevier]

Abstract: Prader Willi Syndrome (PWS) is a complex genetic disorder. Infants present with hypotonia and feeding difficulties, usually without respiratory symptoms, but with distinctive facial features. Early neonatal diagnosis can however be difficult in children with only subtle distinctive appearances or with atypical clinical signs, leading to a significant delay in the diagnosis. To highlight the diagnostic difficulties we reviewed our experience of infants with PWS referred to our tertiary centre. We describe 14 patients, 10 of whom presented in the neonatal period. All had axial hypotonia, and poor feeding. Twelve had a paucity of movement, 11 had distinctive features and 10 had a reduced level of alertness in the neonatal period. In addition to these typical features, four patients had prominent limb dyskinesia, which has only been reported once before in infants with PWS. We draw attention to this relatively common but poorly acknowledged sign that can be seen at presentation of PWS. [Copyright &y& Elsevier]

Purpose: We evaluated the relationship between bladder urine transforming growth factor-β1 concentration and severity of hydronephrosis in newborns with unilateral prenatal hydronephrosis. Materials and Methods: We prospectively studied all newborns presenting with unilateral prenatal hydronephrosis between January 2005 and 2007. Patients with associated anomalies, vesicoureteral reflux, contralateral pathology or ipsilateral ureteral dilatation were excluded from study. Postnatal evaluation included voiding cystourethrography, renal ultrasonography and determination of bladder urine transforming growth factor-β1 concentration. Diuretic renal scans were performed in patients with initial grade 3 or 4 hydronephrosis or increasing hydronephrosis during followup. Pyeloplasty was performed when a well tempered renogram showed an obstructive drainage curve with a half-time greater than 20 minutes and/or an obstructive washout curve pattern during the diuretic phase. Patients were analyzed in observational and surgical groups. We studied the longitudinal changes in bladder urine transforming growth factor-β1 in each group and compared concentration levels in the first 3 months of life in both groups. Results: A total of 42 newborns were included. The observational group consisted of 31 patients followed for a mean of 14 ± 6 months. During the first 3 months, from 3 to 12 months and in the second year of life mean ultrasound grade and bladder urine transforming growth factor-β1 decreased from 2.3 to 1.7 to 1.2 (p <0.05) and from 11.5 to 8.6 to 6.1 pg/mmol creatinine (p <0.05), respectively. Pyeloplasty was performed in 11 patients at a mean age of 6 ± 5 months. Mean followup was 7 ± 5 months. In the first 3 months, preoperatively and at 3 to 12 months postoperatively mean ultrasound grade and bladder urine transforming growth factor-β1 were 3.5, 4 and 3 (p >0.05), and 23, 29 (p >0.05) and 8 pg/mmol creatinine (p <0.003), respectively. Mean bladder urine transforming growth factor-β1 levels in the first 3 months of life were 23 ± 14 and 11.5 ± 8 pg/mmol creatinine in the surgical and observational groups, respectively (p <0.001). Limiting comparison to the 23 patients with initial grades 3 and 4 hydronephrosis revealed levels of 23 ± 14 and 13 ± 9 pg/mmol creatinine in the surgical and observational groups, respectively (p <0.02). At a cutoff of 17 pg/mmol creatinine bladder urine transforming growth factor-β1 in the first 3 months of life was 82% sensitive and 86% specific in predicting surgery. Conclusions: Bladder urine transforming growth factor-β1 changes through time are associated with similar changes in hydronephrosis grade. Bladder urine transforming growth factor-β1 in the first 3 months of life can predict the need for surgery in newborns with prenatal hydronephrosis. [Copyright &y& Elsevier]

Summary: Congenital vallecular cyst is a rare disease in neonates and infants. Even though benign in nature, it owns a high potential morbidity and mortality. Stridor, dyspnea, feeding difficulties, coughing, voice changes, failure to thrive are the most common symptoms. The authors report a case of a 4-month-old infant who presented with a failure to thrive and respiratory distress due to a congenital vallecular cyst. Marsupialization was performed with total symptoms resolution. [Copyright &y& Elsevier]

Summary: Lipoblastomatosis and lipoblastomas are rare benign tumours arising from fetal–embryonal adipocytes. These tumours occur predominately in young children on their extremities. Chung and Ezinger (E.B. Chung, F.M. Ezinger, Benign lipoblastomatosis. An analysis of 35 cases. Cancer 32 (1973) 82–92) differentiated between the two types and described a lipoblastoma to be localised, and well-circumscribed arising from superficial fat tissue, and a lipoblastamatosis to be an unencapsulated, diffuse-type lesion that grows from deeply situated adipose tissue. A case of a lipoblastomatosis in a 6-month-old infant is described. There are no reported cases of this tumour occurring in the facial–buccal region. Although these tumours are rare they should be included in differential diagnoses of soft tissue lesions in infants. [Copyright &y& Elsevier]

Summary: Granulocytic sarcoma is an uncommon harbinger of myeloproliferative disorders. Known to herald the onset or relapse of hematologic dysfunction, primary granulocytic sarcomas may be the only sign of illness in a patient whose bone marrow aspirate and hematologic work-up return normal. The importance of early recognition of this tumor, often misdiagnosed initially, is that expedient treatment with chemotherapy can greatly reduce the development of systemic disease and improve overall survival. This case is the first report of a primary granulocytic sarcoma presenting with sole finding of an external auditory canal mass in an otherwise healthy newborn twin male. After an extensive immunohistochemical evaluation, the biopsy demonstrated monoblastic sarcoma, an uncommon subtype of granulocytic sarcoma more commonly seen in infants. Further hematologic work-up was negative including normal bone marrow aspirate and biopsy. After 6 months of chemotherapy, repeat bone marrow biopsy were again normal and CT scan showed complete resolution. In a review of the literature, there was one report of leukemic recurrence in an adult female in the nasopharynx, external auditory meatus, and bone marrow. [Copyright &y& Elsevier]

This study investigated the views of parents, newborn hearing screeners and Telethon Speech and Hearing (TSH) professionals of the Western Australian Infant Screening for Hearing (WISH) Program. Three questionnaires were used to gather information from the participants. Sixteen responses to the questionnaire were obtained (five parents, five screeners and six TSH professionals) with an additional parent telephoning in her responses. Overall, results showed that families and staff involved in the WISH Program were satisfied with the hearing screening, audiological, early intervention and counselling services provided by the WISH Program and TSH. Recommendations were offered by participants to assist in improving services, as well as continuing the quality of services being offered. Major recommendations were to continue efforts to implement a statewide newborn hearing screening programme in Western Australia, to continue the WISH Program for the private sector, and to make this freely available to parents. Other suggestions included provision of consistent and clear information for parents; an enhanced database system and ongoing data entry; supply of feedback to screeners; and promotion of the WISH Program through improved education of hospital professionals and parents. Copyright © 2008 John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]

Abstract: Newborn screening is a population-based public health initiative to identify newborns that are at risk for genetic and other congenital disorders. Early detection of genetic diseases can lead to early intervention and a significant reduction in morbidity and mortality of affected newborns. Identifying newborns before the onset of symptoms can dramatically improve clinical outcomes for most children. Because technology has advanced, the ability to screen for more conditions at the same cost has increased. Yet, there remains divergence in screening programs among the states, and the cost of implementing follow-up services has increased. Nurses play important roles in educating parents about the content and implications of newborn screening. [Copyright &y& Elsevier]

Summary: Congenital syphilis was rare in most affluent countries but there has been a slight resurgence recently in several European countries. In large parts of the world and particularly sub-Saharan Africa congenital syphilis is a significant public health problem. The cornerstone of congenital syphilis control is antenatal screening and treatment of mothers with penicillin, which is a cost-effective intervention. In affluent countries it should be strengthened among those at high risk. Clinicians should be more vigilant for the possibility of babies being born with congenital syphilis, which is often asymptomatic. In developing countries not only does antenatal care screening need to be strengthened by implementing point-of-care decentralised screening and treatment but alternative innovative approaches to controlling congenital syphilis should be explored. There is an urgent need for international health agencies to support focused approaches to tackling the tragedy of continuing congenital syphilis. This could be a part of a pro-poor strategy to meet the Millennium Development Goals. [Copyright &y& Elsevier]

Normal thyroid function is essential for brain development postnatally, in the first two to three years of life. Over 80% newborns with congenital hypothyroidism appear normal, and cannot be suspected to have CH on the basis of clinical features alone. Delayed thyroxin replacement results in permanent mental retardation. Therefore, neonatal thyroid screening programs have been set up in developed countries, so that appropriate replacement can be started in the first 2 weeks of life. These programs have been shown to be highly cost effective. Worldwide, CH occurs in 1/3,000–4,000 newborns; in India, where the incidence may be higher, screening is not being done universally. In Indraprastha Apollo Hospital, the neonatal team has been screening all newborns (inborn and outborn) almost since its inception (Jan 1997). Most countries have opted for primary TSH screening, while the US uses primary T4. For logistical reasons, we have so far done both tests in each baby, and have moved from screening in the second week of life, to just before discharge (48–72 hrs of life), to testing in the cord blood (liquid sample, not filter paper), keeping the TSH cut-off as 30 uU/ml. Our incidence appears to be much higher than the universal incidence. [Copyright &y& Elsevier]

The use of mass spectrometry in newborn screening has made possible the early diagnosis of various metabolic diseases. However, because aminoglycosides, blood transfusions, nothing by mouth status, and the presence of heparinized solutions all affect the results of newborn screens, neonates in critical care units who receive such treatments ought to be screened under specific practice guidelines. Many of the devastating sequelae of metabolic diseases are preventable if diagnosed early, making the development of such practice guidelines for use in the NICU especially important. Additionally, no standardized practice guidelines presently exist for determining who, whether birth hospital or primary care provider, is responsible for notifying the parent of a positive result and thus ensuring invaluable follow- up care. Such standardized guidelines for screening practice are needed to prevent devastating neurologic sequelae for children whose condition may otherwise escape unaddressed. Newborn screening guidelines developed at Johns Hopkins Hospital and Memorial Regional Hospital provide a helpful starting point. [ABSTRACT FROM AUTHOR]

Objective: The purpose of this study was to evaluate the screening performance of increased first-trimester nuchal translucency for the detection of major congenital heart defects.Study Design: A meta-analysis based on MEDLINE and EMBASE searches (up to June 2002) that assessed the diagnostic performance of increased nuchal translucency for congenital heart defect detection. Weighted sensitivity and specificity estimates (random effects) and summary receiver-operating characteristic curves were obtained.Results: Eight independent studies with 58,492 pregnant women were analyzed. There was significant heterogeneity among the studies. Nuchal translucency above the 99th percentile had a sensitivity of 31% and specificity of 98.7% (random effects calculations), with a positive likelihood ratio of 24. Summary receiver-operating characteristic estimates were consistent with these values. The ability of nuchal translucency measurements above this threshold to detect cardiac malformations varied nonsignificantly (P=.64) for different congenital heart defects types (sensitivity range, 25%-55%).Conclusion: Nuchal translucency screening is a modestly efficient strategy for congenital heart defect detection; the use of the 99th percentile threshold may capture approximately 30% of congenital heart defects. [ABSTRACT FROM AUTHOR]

Compares neonatal outcome of vaginal and elective cesarean delivery in fetus with isolated ventral wall defect in the United States. Characteristics of infants with a diagnosis of omphalocele; Use of high-resolution ultrasonography to diagnose ventral wall defects; Evidence of an isolated ventral wall defect in fetus with antennal diagnosis.

Background: Women with chronic hypertension are at increased risk for adverse maternal and perinatal outcomes. Maternal serum angiogenic markers, such as soluble fms-like tyrosine kinase 1 and placental growth factor, can be used to triage women with suspected preeclampsia. However, data about these markers in pregnant women with chronic hypertension are scarce.Objective: We aimed to evaluate the predictive accuracy of maternal serum levels of soluble fms-like tyrosine kinase 1, placental growth factor, and their ratio for predicting adverse maternal and perinatal outcomes in women with chronic hypertension.Study Design: This was a retrospective analysis of prospectively collected data from January 2013 to October 2019 at the University of Vienna Hospital, Vienna, Austria. The inclusion criteria were pregnant women with chronic hypertension and suspected preeclampsia. The primary outcome of this study was the prognostic performance of angiogenic markers for the prediction of adverse maternal and perinatal outcomes in pregnant women with chronic hypertension. The accuracy of angiogenic markers for predicting adverse composite outcomes was assessed with a binomial logistic regression. The accuracy of each marker was assessed using receiver operating characteristics curves and area under the curve values. Area under the curve values were compared using De Long's test.Results: Of the 145 included women with chronic hypertension and suspected superimposed preeclampsia, 26 (17.9%) women developed complications (ie, composite adverse maternal or fetal outcomes) within 1 week of assessment (average gestational age at assessment, 29.9 weeks) and 35 (24.1%) developed complications at any time (average gestational age at assessment, 30.1 weeks). In women who developed complications at any time, the median maternal serum soluble fms-like tyrosine kinase-1 to placental growth factor ratio was 149.4 (interquartile range, 64.6-457.4) compared with 8.0 (interquartile range, 3.37-41.2) for women who did not develop complications (P<.001). The area under the curve values for the maternal serum soluble fms-like tyrosine kinase-1 to placental growth factor ratio Z-score (0.95; 95% confidence interval, 0.90-0.99) and placental growth factor level Z-score (0.94; 95% confidence interval, 0.88-0.99) for predicting complications within 1 week of assessment were very high. The area under the curve values for new-onset edema (0.61; 95% confidence interval, 0.52-0.70), proteinuria (0.62; 95% confidence interval, 0.52-0.71), high mean arterial pressure (0.52; 95% confidence interval, 0.50-0.54), and other symptoms of preeclampsia (0.57; 95% confidence interval, 0.49-0.65) were all significantly lower than for the angiogenic markers (P<.001 for all). Women who had an angiogenic imbalance and/or proteinuria had the highest rate of complications (28/57, 49.1%). The rate of complications in women with an angiogenic imbalance and/or proteinuria was significantly higher than in women with either proteinuria, other symptoms, or intrauterine growth restriction in the absence of an angiogenic imbalance (49.1% vs 16.7%; P=.039). The highest positive and negative predictive values for predicting adverse outcomes were demonstrated by an angiogenic imbalance and/or proteinuria criteria with a positive predictive value of 49.1% (95% confidence interval, 50.4%-57.9%) and a negative predictive value of 92% (95% confidence interval, 85.5%-95.8%). Longitudinal changes in measurements of the gestational age-corrected ratio of soluble fms-like tyrosine kinase-1 to placental growth factor up to the last measurement had a significantly higher area under the curve value than the last measurement alone (area under the curve, 0.95; 95% confidence interval, 0.92-0.99 vs 0.87; 95% confidence interval, 0.79-0.95; P=.024) CONCLUSION: Maternal serum angiogenic markers are superior to clinical assessment in predicting adverse maternal and perinatal outcomes in pregnant women with chronic hypertension. Repeated measurements of the ratio of soluble fms-like tyrosine kinase-1 to placental growth factor seems beneficial given the better predictive accuracy compared with a single measurement alone. The use of angiogenic makers should be implemented in clinical management guidelines for pregnant women with chronic hypertension. [ABSTRACT FROM AUTHOR]

Neonatal genital prolapse without congenital spinal abnormality is rare. Several treatment modalities are known to manage this condition. Our management consists of manually reducing the prolapsed mass and applying purse string suture technique. [ABSTRACT FROM AUTHOR]

Fetus-in-fetu is a rare condition, less than 200 cases have been reported. Its embryopathogenesis is linked to a monozygotic, diamniotic parasitic twin. The presence of a calcified vertebral column and other body parts are key to the diagnosis, and differentiate it from a teratoma. We report a case of a neonate who was admitted immediately after delivery by Caesarian section following a prolonged obstructed labor caused by a huge mass projecting from the hard palate. The mass had identifiable malformed body parts but was anencephalic. Intraoperative findings were a short stalk and cleft of the soft palate. He had excision of the mass and did well post operatively. Persistent mouth breathing and difficult nasal cannulation lead to request for post operative magnetic resonance imaging which showed patent nostrils and absent residual mass. Prompt and skillful anesthesia and surgical intervention assisted in the survival of this patient. [ABSTRACT FROM AUTHOR]

Determines the degree of fetal pyelectasis predictive of neonatal renal pathologic processes. Postnatal urinary tract pathologic features; Postnatal management.

Evaluates the index values for cord blood pH, lactate, hypoxanthine and erythropoietin levels in infants with and without meconium-stained amniotic fluid. Selection of sample population; Determination of significant differences between index values of the two groups.

This article presents information on a study which focuses on the diagnosis of Down syndrome in newborn infants. The study presents a simplified score based on eight of the ten signs of this syndrome. The material consists of all cases in the neonatal department of Asaf Harofe Hospital in Zerifin, Israel, who were initially diagnosed as having Down syndrome or suspected of Down syndrome during the period January 01, 1973, to December 31, 1977. The possibility of confirming the diagnosis of Down syndrome in about 70 per cent of the suspected cases without having to wait for the results of the cytogenetic investigation is of great practical value.

Although cytomegalovirus (CMV) is a common congenital infection in neonates, most patients are asymptomatic. Gastrointestinal manifestation is unusual. In this report, we described a newborn with perinatal CMV infection presented with symptoms mimicking necrotizing enterocolitis. We hope to alert clinicians about this possible diagnosis when managing newborn gastrointestinal diseases. [ABSTRACT FROM AUTHOR]