Search

Aim: To assess the accuracy of neonatal distress prediction using the five‐level classification of fetal heart rate (FHR) and management protocol of the Japan Society of Obstetrics and Gynecology (JSOG). Methods: A case–control study was conducted. Vertex singleton pregnant women who delivered after 37 weeks' gestation from 2013 to 2015 were enrolled. The participants were categorized into two groups; controls were levels 1–3 (n = 1184), whereas cases were levels 4–5 (n = 117) group. Neonatal distress was defined as Apgar score < 8 points at 5 min or umbilical cord artery pH < 7.1. Results: There were 117 cases (9.0%). The frequency of the neonatal distress was observed in 1.3% controls and 6.8% cases (P < 0.01). Diagnostic accuracy of neonatal distress for cases showed a 6.8% positive‐predictive value, 34.8% sensitivity, 91.5% specificity and 98.7% negative‐predictive value. Among various obstetrical conditions, high sensitivity (100%) for prediction of neonatal distress was observed in women with chromosome abnormalities, placental abruption, umbilical cord abnormalities and excessive labor pain. Conversely, relatively low specificity (<50%) was observed in cases with oligohydramnios and excessive labor pain. Conclusion: The five‐level classification scheme was efficient for neonatal distress prediction. However, depending on the obstetric condition, the FHR findings and neonatal condition might be independent. [ABSTRACT FROM AUTHOR]

Objective: The objective was to evaluate and improve accuracy of anticipatory counseling regarding neonatal intervention for prenatally diagnosed tetralogy of Fallot (TOF) by assessing new and previously published predictors of neonatal intervention.Methods: This is a multi-center, retrospective study from three centers of 112 fetal TOF patients undergoing third trimester fetal echocardiograms from 2004 to 2017. Additional cardiac defects requiring neonatal intervention were excluded. Fetal echocardiographic, clinical, and consultation data were compared between neonatal and late intervention. Optimal echocardiographic values were determined.Results: Twenty-six infants (23%) required neonatal intervention. Those infants had significantly different pulmonary valve (PV) z-scores, PV:aortic valve (AoV) ratios, PV:AoV z-score differences (absolute difference between z-scores), and increased likelihood of abnormal ductal flow. Counseling during fetal echocardiogram regarding interventional timing was accurate for 50% needing neonatal intervention and 86% undergoing late intervention (P = .002). The best neonatal intervention predictors were PV:AoV ratio of <0.6 and counseling for neonatal intervention. PV:AoV z-score difference ≥5 provided 89% negative predictive value for excluding patients from neonatal repair.Conclusions: Third trimester fetal echocardiograms can predict interventional timing. The best predictors of neonatal intervention are PV:AoV ratio <0.6, PV:AoV z-score difference ≥5, and cardiologist counseling that neonatal intervention was likely. [ABSTRACT FROM AUTHOR]

Background: Phlebotomy is among the main determinants of anemia of prematurity. Blood sparing policies endorsed umbilical cord blood (here called placental) as an alternative source for laboratory testing. Little is known on the suitability of placental blood to evaluate neonatal hemostasis of newborn infants. We aimed to compare the hemostatic profile of paired placental and infant venous blood, by means of prothrombin time (PT), activated partial thromboplastin time (APTT), fibrinogen, antithrombin, protein C, thromboelastography (TEG) and thrombin generation assay (TGA).Study Design: This was an observational single-center study.Methods: We collected at birth venous citrated blood from both placental and infant venous source and performed PT, APTT, fibrinogen, antithrombin, protein C, TEG (reaction time-R; kinetics-K alpha angle-α, maximum amplitude-MA and lysis at 30 minutes-LY30), and TGA (endogenous thrombin potential-ETP).Results: We enrolled 60 neonates with a median gestational age (range) of 37 weeks (28+1 -41) and birth-weight 2417 g (950-4170). Based on TEG and TGA, placental blood showed a procoagulant imbalance as indicated by lower median R (4.0 vs. 6.1 min; p < 0.001) and K (1.3 vs. 2.2 min; p < 0.001); higher α-angle (69.7 vs. 57.4°; p < 0.001) and ETP (1260 vs. 1078; p = 0.002) than those observed for infant venous blood. PT and APTT did not differ significantly between the two groups.Conclusions: While placental and neonatal blood samples are equally suitable to measure the standard coagulation tests PT and APTT, placental blood leads to a procoagulant imbalance when testing is performed with TEG or TGA. These effects should be considered when interpreting results stemming from investigation of neonatal hemostasis. [ABSTRACT FROM AUTHOR]

Objectives: To determine the frequency of genetic and additional structural abnormalities as well as pregnancy outcomes in fetuses with prenatally diagnosed cephalocele.Methods: A retrospective analysis of data retrieved from ultrasound examinations and genetic testing in fetuses with cephalocele diagnosed between 2006 and 2018 in a tertiary referral hospital along with a systematic literature search in the PubMed database on fetuses with prenatally diagnosed cephalocele.Results: Twenty-one out of 36 fetuses were found to have additional structural anomalies (58.3%). In four fetuses, anomalies were consistent with limb-body wall complex, in five with Meckel-Gruber syndrome, and in one with amniotic band syndrome. Genetic abnormalities were present in 11.1% of fetuses (trisomy 6; microdeletion 22q11.21; microduplication 16p13.11; pathogenic variant in gene CC2D2A). Twenty-eight pregnancies were terminated (77.8%; 28/36); two were miscarried (5.6%; 2/36). All six children from pregnancies that continued were liveborn but only two survived the surgery and developed neurological sequence. Overall survival rate was 25% (2/8) with 0% intact survival.Conclusions: Additional structural anomalies are common in fetuses with cephalocele. A significant number of fetuses have genetic abnormalities, and a detailed genetic testing should be performed in all cases. The prognosis is poor with high mortality rate and 0% intact survival. [ABSTRACT FROM AUTHOR]

Objective: To clarify the association between postpartum depression (PPD) and anemia in each stage of pregnancy as well as in the postpartum period.Methods: A prospective cohort study was conducted between May 2010 and November 2013 at a tertiary hospital in Japan. In total, 1128 women were assessed using the Edinburgh Postpartum Depression Scale (EPDS) at postpartum week 4 and a blood test was performed in the second trimester (24-28 weeks of gestation), third trimester (35-36 weeks of gestation), and postpartum week 1. The primary outcome was PPD, defined as an EPDS score of 9 or higher. Multivariate logistic regression analysis was used to elucidate the association between anemia and PPD for each period. Additionally, trend analysis was conducted to determine if there was a linear association between maternal hemoglobin concentration and PPD.Results: Postpartum anemia was significantly associated with increased PPD risk (adjusted odds ratio 1.63, 95% confidence interval 1.17-2.26) whereas anemia in the second and third trimesters was not. Similarly, a significant inverse association was observed between the quintiles of maternal hemoglobin levels in the puerperium and the PPD risk (P value for trend 0.004).Conclusion: Postpartum anemia was associated with an increased risk of PPD. [ABSTRACT FROM AUTHOR]

Background: Platelet mass index (PMI) is associated with platelet functionality. The aim of this study was to evaluate the role of PMI in predicting the severity of transient tachypnea of the newborn (TTN). Methods: Infants with gestational age ≥37 weeks and birthweight ≥2,000 g who were given nasal intermittent mandatory ventilation for TTN ≤6 h after birth were retrospectively enrolled in this study. PMI was calculated using the following formula: PMI = platelet count × mean platelet volume/103 (fL/nL). The study infants (n = 101) were divided into two groups according to the duration of tachypnea: ≤48 h (n = 45) and >48 h (n = 56). Results: The PMI and platelet count were significantly lower in the group with tachypnea duration >48 h than in the tachypnea duration ≤48 h group (P < 0.001 and P = 0.04, respectively). A negative significant correlation was noted between PMI and the duration of tachypnea (r = −0.43, P < 0.001). A PMI cut‐off of 1,562 fL/nL can predict prolonged tachypnea (>48 h) with a sensitivity of 62.5%, specificity of 68.9%, positive predictive value of 71.4%, and negative predictive value of 59.6% (area under the curve, 0.682 ± 0.053; P = 0.002). Conclusions: Lower PMI and lower platelet count are associated with longer duration of tachypnea in patients with TTN. [ABSTRACT FROM AUTHOR]

Introduction: The present study aims to investigate the association of spontaneous labor onset with neonatal outcomes in pregnancies with fetal gastroschisis. The secondary goal was to evaluate the association between ultrasound markers and labor onset in pregnancies with fetal gastroschisis.Material and Methods: A retrospective analysis was performed for 207 pregnancies with fetal gastroschisis between 2005 and 2017. Patients were followed according to a strict protocol involving ultrasound scans and routine evaluations of fetal biophysical profile parameters and intra- and extra-abdominal bowel diameters. Labor, delivery and neonatal records were reviewed. The neonatal outcomes were complex gastroschisis, staged surgical closure of the abdominal defect, short bowel syndrome, time on mechanical ventilation, time to full enteral feeding and necrotizing enterocolitis.Results: Spontaneous labor onset was associated with complex gastroschisis (30.7% vs 6.8%, P = 0.002) and short bowel syndrome (13.2% vs none, P = 0.013) in cases with spontaneous preterm delivery compared with the indicated preterm deliveries. Spontaneous labor onset was associated with a longer time on mechanical ventilation for term and preterm newborns. Associations were not observed between ultrasound markers and spontaneous labor onset.Conclusions: Spontaneous labor onset in pregnancies with fetal gastroschisis was associated with adverse neonatal outcomes, particularly in those born preterm. [ABSTRACT FROM AUTHOR]

Nonsteroidal anti-inflammatory drugs (NSAIDs) are used as tocolytics, which are medications that suppress uterine contractions for preterm birth prevention. Their effect on cerebral/systemic vascular beds poses the question of whether antenatal NSAID exposure is associated with neonatal hypertension. We performed a retrospective case-control study in a tertiary neonatal intensive care unit, including 40 hypertension cases (hospitalized neonates ≥ 35 weeks with systolic BP > 100 mm Hg on three consecutive days) compared to 134 controls matched by gestational age at delivery, plurality, and delivery date. Cases and controls were compared by antenatal NSAID exposure, other common tocolytics, and maternal/neonatal characteristics and complications. Multivariable logistic regression was used to estimate the odds of hypertension among those with prenatal exposure to NSAIDs versus those without exposure. Newborns with hypertension had a lower gestational age at delivery and increased incidence of neonatal complications, including respiratory distress syndrome, bronchopulmonary dysplasia, surfactant administration, longer duration of ventilation, and history of umbilical artery catheterization. Days of indomethacin exposure were positively associated with greater odds of neonatal hypertension (OR 1.17 [1.00 to 1.38], P = 0.055), even after adjustment for other factors associated with neonatal hypertension. Newborns with hypertension were less likely to have been exposed to calcium channel blockers as a tocolytic. The results of our study suggest an association between prenatal exposure to nonsteroidal anti-inflammatory drugs and neonatal hypertension. Furthermore, our data suggest that prenatal calcium channel blocker exposure may protect against the development of neonatal hypertension. Future multicenter studies are needed to understand the risks of tocolytics and subsequent consequences in preterm infants. [ABSTRACT FROM AUTHOR]

Objectives: In sacrococcygeal teratoma, the presence of high‐output cardiac failure resulting from arteriovenous shunting through the large tumor has been associated with an adverse outcome. The objective of this study was to determine whether the tumor size and cardiac biomarkers in cord blood can predict neonatal survival in sacrococcygeal teratoma. Methods: The study population consisted of 25 neonates with sacrococcygeal teratoma. Tumor size was calculated by the ellipsoid formula using dimensions measured by antenatal ultrasound ([length × width × depth in cm] × 0.52= volume in cm3). To adjust the gestational age, the tumor volume index (tumor volume/biparietal diameter) was adopted in the analysis. Cardiac biomarkers for heart failure (N‐terminal pro‐B‐type natriuretic peptide [NT‐pro‐BNP] and cardiac troponin T [cTnT]) were measured in cord blood taken at the time of delivery. Results: The rate of neonatal death was 24% (6 of 25). The cases that resulted in neonatal death had a higher tumor volume index and higher concentrations of NT‐pro‐BNP and cTnT than those with survival. A tumor volume index of greater than 60 cm3/cm, elevated NT‐pro‐BNP (>2000 pg/mL), and elevated cTnT (>0.08 ng/mL) had sensitivity of 100% for prediction of neonatal death. Conclusions: The tumor volume index and cord blood biomarkers for heart failure can be promising prognostic markers for neonatal survival in sacrococcygeal teratoma. [ABSTRACT FROM AUTHOR]

Abstract: Many scientists and doctors hope that affordable genome sequencing will lead to more personalized medical care and improve public health in ways that will benefit children, families, and society more broadly. One hope in particular is that all newborns could be sequenced at birth, thereby setting the stage for a lifetime of medical care and self‐directed preventive actions tailored to each child's genome. Indeed, commentators often suggest that universal genome sequencing is inevitable. Such optimism can come with the presumption that discussing the potential limits, cost, and downsides of widespread application of genomic technologies is pointless, excessively pessimistic, or overly cautious. We disagree. Given the pragmatic challenges associated with determining what sequencing data mean for the health of individuals, the economic costs associated with interpreting and acting on such data, and the psychosocial costs of predicting one's own or one's child's future life plans based on uncertain testing results, we think this hope and optimism deserve to be tempered. In the analysis that follows, we distinguish between two reasons for using sequencing: to diagnose individual infants who have been identified as sick and to screen populations of infants who appear to be healthy. We also distinguish among three contexts in which sequencing for either diagnosis or screening could be deployed: in clinical medicine, in public health programs, and as a direct‐to‐consumer service. Each of these contexts comes with different professional norms, policy considerations, and public expectations. Finally, we distinguish between two main types of genome sequencing: targeted sequencing, where only specific genes are sequenced or analyzed, and whole‐exome or whole‐genome sequencing, where all the DNA or all the coding segments of all genes are sequenced and analyzed. In a symptomatic newborn, targeted or genome‐wide sequencing can help guide other tests for diagnosis or for specific treatment that is urgently needed. Clinicians use the infant's symptoms (or phenotype) to interrogate the sequencing data. These same complexities and uncertainties, however, limit the usefulness of genome‐wide sequencing as a population screening tool. While we recognize considerable benefit in using targeted sequencing to screen for or detect specific conditions that meet the criteria for inclusion in newborn screening panels, use of genome‐wide sequencing as a sole screening tool for newborns is at best premature. We conclude that sequencing technology can be beneficially used in newborns when that use is nuanced and attentive to context. [ABSTRACT FROM AUTHOR]

Background: The safest delivery mode of extremely preterm breech singletons is unknown.Objectives: To determine safest delivery mode of actively resuscitated extremely preterm breech singletons.Search Strategy: We searched Cochrane CENTRAL, MEDLINE, EMBASE, CINAHL and ClinicalTrials.gov from January 1994 to May 2017.Selection Criteria: We included studies comparing outcomes by delivery mode in actively resuscitated breech infants between 23+0 and 27+6 weeks.Data Collection and Analysis: We synthesised data using random effects, generated odds ratios, 95% confidence intervals and number-needed-to-treat (NNT). Our primary outcomes were death (neonatal, before discharge, or by 6 months) and severe intraventricular haemorrhage (grades III/IV), stratified by gestational age (23+0 -24+6 , 25+0 -26+6 , 27+0 -27+6 weeks).Main Results: We included 15 studies with 12 335 infants. We found that caesarean section was associated with a 41% decrease in odds of death between 23+0 and 27+6 weeks [odds ratio (OR) 0.59, 95% CI 0.36-0.95, NNT 8], with the greatest decrease at 23+0 -24+6 weeks (OR 0.58, 95% CI 0.44-0.75, NNT 7). The OR at 25+0 -26+6 and 27+0 -27+6 weeks were 0.72 (95% CI 0.34-1.52) and 2.04 (95% CI 0.20-20.62), respectively. We found that caesarean section was associated with 49% decrease in odds of severe intraventricular haemorrhage between 23+0 and 27+6 weeks (OR 0.51, 95% CI 0.29-0.91, NNT 12), whereas the OR at 25+0 -26+6 and 27+0 -27+6 was 0.29 (95% CI 0.07-1.12) and 0.91 (95% CI 0.27-3.05), respectively.Conclusions: Caesarean section was associated with reductions in the odds of death by 41% and of severe intraventricular haemorrhage by 49% in actively resuscitated breech singletons < 28 weeks of gestation. The data are mostly observational, which may be inherently biased, and scarce on other morbidities, necessitating thorough discussion between parents and clinicians.Tweetable Abstract: Caesarean section associated with lower odds of death and severe intraventricular haemorrhage in actively resuscitated breech singletons <28 weeks. [ABSTRACT FROM AUTHOR]

Spinal ultrasonography is a safe, rapid, and non-invasive diagnostic tool that allows visualization of the spinal cord and its surrounding meninges. The non-ossified spinous processes were used as an acoustic window for imaging the spinal cord in human and canine neonates. No available literatures have been published describing the ultrasonographic appearance of caprine neonatal spinal cord. The present study was performed on 20 one day-old goat kids. Sagittal and transverse ultrasound scans were obtained using 8 MHz linear transducer. The spinal cord appeared as a tubular anechoic to hypoechoic structure within the spinal canal. The cord was surrounded by hyperechoic dura and pia matter as well as the anechoic subarachnoid space in-between. The mean sagittal diameter of the cord at the cervical region was (4.6 ± 0.3 mm), the thoracic region (3.9 ± 0.2 mm), and the lumbar region (4.3 ± 1.1 mm). The sagittal diameter of the cord at the cervical and lumbar regions was significantly wider than the diameter at the thoracic region. Identification of the normal ultrasonographic appearance of caprine neonatal spinal cord may represent the basis for diagnosing congenital spinal cord lesions. [ABSTRACT FROM AUTHOR]

Aim: Our aim was to study prospectively the aetiology of neonatal conjunctivitis in a population-based setting.Methods: Altogether 173 neonates with clinical conjunctivitis aged on average 20 (SD 10) days were recruited from child welfare clinics in Oulu, Finland, in 2010-2015. Conjunctival specimens were collected from 167 neonates for multiplex polymerase chain reaction to detect 16 respiratory viruses, from 163 for polymerase chain reaction to detect Chlamydia trachomatis and Neisseria gonorrhoeae and from 160 for bacterial culture studies. The cases were followed up until the age of 18 months.Results: Viral conjunctivitis was diagnosed in 8/167 (4.8%; 95% CI 2.1-9.2%), chlamydial or gonococcal conjunctivitis in 0/163 cases (0%; 95% CI 0-2.2%) and other bacterial conjunctivitis in 58/160 (36%; 95% CI 29-44%). Rhinovirus was found at the ocular site in 4/167 (2.4%) neonates, adenovirus in 3/167 (1.8%) and bocavirus in 1/167 (0.6%). The most commonly isolated bacteria included Staphylococcus aureus (16%), Moraxella catarrhalis (9.4%) and Streptococcus pneumoniae (3.1%). None of these pathogens was associated with the 4/173 (2.3%) cases later operated on for persistent nasolacrimal duct obstruction.Conclusion: Chlamydia trachomatis was a rare pathogen in neonatal conjunctivitis in a population-based setting, but respiratory viruses were detected more frequently than indicated earlier. [ABSTRACT FROM AUTHOR]

Aim: There is no evidence on the effect of universal ultrasound screening on developmental dysplasia of the hip. We examined the impact of adding an ultrasound examination to a one examiner clinical screening strategy on treatment, follow-up rates and the number of cases detected late in a low-prevalence population.Methods: All eligible babies born at Kongsberg Hospital, Norway, from 1998 to 2006 (n = 4245) underwent both clinical and ultrasound hip examinations within three days of life. Indications for immediate treatment were positive Barlow or Ortolani manoeuvres and, or, sonographic dysplasia. Sonographic immature hips were followed until normalisation. Treatment rates and rates from the 1989 to 1997 prestudy period (n = 3594), including late diagnoses, were collected from hospital records.Results: Treatment was initiated in 90 (2.1%) infants (74 girls), 63 (70%) from birth, compared to 33 (0.9%) during the prestudy period. The follow-up rate did not change (11%). There were two (0.5/1000) and four (1.0/1000) cases detected late, respectively. No one underwent surgery during the first year of life and no avascular necrosis was seen.Conclusion: Adding universal ultrasound to clinical screening performed by the same, experienced paediatrician doubled the treatment rate, without influencing the already low numbers of late cases. [ABSTRACT FROM AUTHOR]

Aim: Evaluation of comfort and pain in neonates is important for management. Specific signs of persistent pain in neonates remain undefined; few validated clinical tools assess persistent pain. We sought to determine (i) difficulty perceived by staff and parents in assessing comfort/persistent pain in babies, (ii) strategies employed when no clinical tool is used and (iii) variation between clinicians' assessments.Methods: Parent and staff questionnaires addressed difficulty in assessing pain/comfort in neonates and strategies used in making assessments.Results: A total of 47 of 50 (94%) parents and 83 of 91 (91%) staff participated; 50% of staff reported it was moderately/very difficult to assess persistent pain, and 13% very easy; 75% of parents found it moderately/very easy and 23% difficult to assess their baby's comfort; 15% of parents thought staff found pain assessment difficult. Staff described 94 different factors indicative of comfort and 139 factors of persistent pain. Terminology differed widely and was often nonspecific; 67% of staff described forming a 'general impression'.Conclusion: Pain assessment is challenging for staff. Most parents feel confident in assessing their babies' comfort, but may overestimate the ease with which staff can do so. Indicators of persistent pain/comfort are poorly defined; staff use differing, subjective assessments, which may complicate communication between carers. [ABSTRACT FROM AUTHOR]

Background Methylation defects at chromosome 6q24 usually induce transient neonatal diabetes mellitus. There are few reports of permanent neonatal diabetes mellitus caused by abnormalities of 6q24. We report the first case of permanent neonatal diabetes mellitus to be associated with confirmed methylation defects at chromosome 6q24. Case report A baby girl, small for her gestational age, was found to have high blood glucose 1 day after birth, with no systematic congenital anomalies. She showed no remission of diabetes and has hitherto been reliant on insulin (now aged of 5.5 years), which supports a diagnosis of permanent neonatal diabetes mellitus. The single nucleotide polymorphism array and highly polymorphic short tandem repeat analysis identified paternal uniparental disomy of chromosome 6, and a genome-wide analysis ruled out mutations in coding and non-coding regions. Conclusion This report expands the varieties of neonatal diabetes known to be induced by methylation defects at chromosome 6q24, and suggests that the diagnostic evaluation of permanent neonatal diabetes mellitus should be expanded to include testing for 6q24. [ABSTRACT FROM AUTHOR]

Background: Anti-human neutrophil antigen (HNA) antibodies have been implicated in the development of neonatal alloimmune neutropenia (NAN) and autoimmune neutropenia (AIN). There are many conventional assay methods that detect anti-HNA antibodies. However, a method to measure multiple samples and detect several anti-HNA antibodies simultaneously is needed.Study Design and Methods: We developed a new method, the extracted granulocyte antigen immunofluorescence assay (EGIFA), to analyze anti-HNA-1a, -1b, and -2 antibodies in sera. The results obtained by EGIFA were evaluated in comparison with those from several standard assay methods. Anti-HNA antibodies in serum samples from nine familial cases with suspected NAN (n = 19) and children with suspected AIN (n = 88) were also measured by EGIFA.Results: The evaluation of nine serum samples with anti-HNA antibodies suggested that EGIFA demonstrated equivalent specificity and superior sensitivity to monoclonal antibody-specific immobilization of granulocyte antigens and had comparable sensitivity to the granulocyte indirect immunofluorescence test. EGIFA successfully detected anti-HNA-1a or -1b antibodies in seven of nine familial cases with suspected NAN. EGIFA detected anti-HNA antibodies in 40.9% of children with suspected AIN. Among them, isolated anti-HNA-1a or -1b antibody was detected in 4.5 or 12.5% of children, respectively, and anti-HNA-2 antibody was identified in 3.4% of children. The 30.8% (16 of 52) of children negative for anti-HNA antibody by EGIFA were positive for anti-HLA antibody.Conclusion: EGIFA facilitated the measurement of anti-HNA-1a, -1b, and/or -2 antibodies in sera. The prompt measurement of anti-HNA antibodies will improve the diagnosis and clinical management of patients with suspected NAN or AIN. [ABSTRACT FROM AUTHOR]

Hepatitis E virus ( HEV) infection can be vertically transmitted, but the factors that transmit the disease to foetuses are still unclear. We studied a total of 144 pregnant women with HEV infection. Cord blood and newborn samples were taken for analysis. Nutritional factors were evaluated on the basis of anthropometric parameters and biochemical factors, and HEV viral load was quantified by real-time PCR. Sequencing of HEV-positive samples was performed. Approximately 14.63% (6/41) of pregnant patients with acute liver failure ( ALF) died before delivery. Vertical transmission was observed in 46.09% (59/128) of HEV-IgM-positive mothers. Approximately 23.80% (10/42) of newborns in the acute viral hepatitis group and 29.41% (5/17) in the ALF group were positive for HEV- RNA. No significant difference was observed in the occurrence of vertical transmission in HEV groups. Viral load was found to be a significant predictor for vertical transmission of HEV infection adjusted with haemoglobin and folate in derivation cohort group. Incorporating these variables, a new score predicting vertical transmission of HEV was derived. Using these significant predictors, the probability for vertical transmission of HEV was well stratified in the validation group ( P>.05). In conclusion, viral load was associated with vertical transmission of HEV infection. A valid prediction score model was generated that was verified in a validation cohort group. [ABSTRACT FROM AUTHOR]

A systematic scoping search to describe the neurophysiological methods used in infant acute pain assessment research was conducted. Of the 2411 abstracts screened, 19 articles were retained. Nine studies utilised near-infrared spectroscopy (NIRS), two utilised functional magnetic resonance imaging (fMRI), and eight utilised electroencephalography (EEG). There was methodological variability in studies utilising NIRS, whereas EEG and fMRI studies reported consistent methods. Of the eight EEG studies, six identified a nociceptive-specific event-related potential.Conclusion: While more methodologically rigorous studies are needed, ERPs appear to hold some promise as indicators of infant nociception during clinical procedures to supplement existing measures. [ABSTRACT FROM AUTHOR]

Aim: Neonatal clinicians may be asked to review X-ray images when unable to directly access the original image. Transmitting an X-ray image to a smartphone is a technique increasingly being used by clinicians in a number of settings. Minimal data exist on its use in the neonatal setting. Our aim was to compare the ability of neonatal clinicians to correctly diagnose a pneumothorax from a chest radiograph (CXR) viewed on a smartphone, paralleled with the same image viewed on a computer screen.Methods: We investigated the accuracy, sensitivity, specificity, positive predictive value and negative predicative value of two methods of viewing CXR images to diagnose pneumothorax, compared with a gold standard radiologist report. Clinicians were presented with 40 CXR images on two occasions, at least 1 week apart. Images were viewed once on a smartphone and once on a computer screen. Both the viewing method and viewing order of the images were randomised. The clinical details of the infant at the time the CXR was taken were provided, and participants were asked if a pneumothorax was present.Results: Twenty-one clinicians viewed all CXR images using both viewing methods (840 paired observations). There was no difference in accuracy of detecting pneumothorax between viewing methods, 81% correctly identified a pneumothorax using the smartphone, versus 80% using the computer screen (P = 0.40 (95% CI), difference -4 to 1.5%).Conclusion: Diagnosis of neonatal pneumothorax was as accurate using a smartphone as viewing CXR images displayed on a computer screen when clinicians were presented with X-rays with diagnosis of pneumothorax. [ABSTRACT FROM AUTHOR]

Aim: Neonatal arterial ischaemic stroke (AIS) is an important cause of severe neurological disability. This study aimed to analyse the clinical manifestations and outcomes of AIS patients.Methods: We enrolled neonates with AIS admitted to Severance Children's Hospital and Gangnam Severance Hospital between 2008 and 2015. AIS was confirmed using magnetic resonance imaging (MRI). We retrospectively reviewed the clinical manifestations, MRI findings, electroencephalography (EEG) findings and neurodevelopmental outcomes.Results: The study comprised 29 neonates (18 boys). The mean follow-up period was 15.4 months (range 6-44 months), and the mean age at diagnosis was 8.1 days. Seizure was the most common symptom (66%). Bilateral involvement was more common than unilateral involvement (52%). The middle cerebral artery was the most commonly identified territory (79%). Abnormal EEG findings were noted in 93% of the cases. Neurodevelopment was normal in 11 (38%) patients, while cerebral palsy and delayed development were noted in eight (28%) and six (21%) patients, respectively. Patients with bilateral involvement were very likely to have abnormal neurodevelopmental outcomes.Conclusion: Our study showed that abnormal neurodevelopmental outcomes were very likely after cases of neonatal AIS with bilateral involvement, and clinicians should consider early and more effective interventions in such cases. [ABSTRACT FROM AUTHOR]

Aim: Having observed slow pupillary light responses (PLRs) in infants at high risk of cerebral palsy, we retrospectively evaluated whether these were associated with specific brain lesions or unfavourable outcomes.Methods: We carried out neurological examinations on 30 infants at very high risk of cerebral palsy five times until the corrected age of 21 months, classifying each PLR assessment as normal or slow. The predominant reaction during development was determined for each infant. Neonatal brain scans were classified based on the type of brain lesion. Developmental outcome was evaluated at 21 months of corrected age with a neurological examination, the Bayley Scales of Infant Development Second Edition and the Infant Motor Profile.Results: Of the 30 infants, 16 developed cerebral palsy. Predominantly slow PLRs were observed in eight infants and were associated with periventricular leukomalacia (p = 0.007), cerebral palsy (p = 0.039), bilateral cerebral palsy (p = 0.001), poorer quality of motor behaviour (p < 0.0005) and poorer cognitive outcome (p = 0.045).Conclusion: This explorative study suggested that predominantly slow PLR in infants at high risk of cerebral palsy were associated with periventricular leukomalacia and poorer developmental outcome. Slow PLR might be an expression of white matter damage, resulting in dysfunction of the complex cortico-subcortical circuitries. [ABSTRACT FROM AUTHOR]

Aim: There have been few studies on long-term electroretinographic findings in patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). This study correlated long-term electroretinographic findings with age, metabolic control and clinical symptoms.Methods: We examined 12 Swedish patients with LCHADD. Visual acuity testing, fundus examinations, optical coherence tomography and electroretinography were performed. The results were correlated to age, the levels of 3-hydroxyacylcarnitine and acylcarnitine and clinical metabolic control.Results: Blindness or moderate visual impairment was found in two patients. Retinal pigmentation, atrophy and fibrosis were present in 11, seven and one of the patients, respectively, and optical coherence tomography showed retinal thinning in three of the six patients examined. Electroretinography was performed on 11 of the 12 patients. It was pathological, with reduced rod and cone responses, in five patients, subnormal in four and was related to poor clinical metabolic control and severe neonatal symptoms. Repeated electroretinographies revealed reduced function with increasing age.Conclusion: More than 80% of the LCHADD patients developed pathological or subnormal retinal function. This was more pronounced in patients with neonatal symptoms, but ameliorated by strict dietary treatment. Annual ophthalmological follow-ups, with electroretinography every second or third year, are recommended. [ABSTRACT FROM AUTHOR]

Aim: Noninvasive electrical stimulation at acupuncture points (NESAP) for analgesia is used in children, but has not been widely studied in neonates. The purpose of this study was to determine whether NESAP alone or in combination with sucrose relieved heelstick pain in neonates.Methods: Term neonates (n = 162) receiving routine heelsticks for newborn screening were enrolled following parental consent. All infants received facilitated tucking and non-nutritive sucking. Neonates were randomised to standard care, sucrose, NESAP or sucrose plus NESAP. NESAP (3.5 mA, 10 Hz) or sham was administered over four acupuncture points. The Premature Infant Pain Profile (PIPP), heart rate variability (HRV) and salivary cortisol were used to measure heelstick pain.Results: PIPP scores among all four treatment groups increased during heelstick, F (9,119) = 1.95, p = 0.05 and NESAP therapy had no significant effect on PIPP scores. However, PIPP scores from baseline to heelstick increased the most in the two groups not receiving sucrose (p < 0.01). Mean PIPP scores remained below five during the heelstick in all four groups, indicating minimal or no pain. Differences in HRV and salivary cortisol among groups were insignificant.Conclusion: NESAP at 3.5 mA, 10 Hz is not effective in relieving pain during heelsticks in neonates. [ABSTRACT FROM AUTHOR]

A newborn boy presented with a progressively infiltrating and painful congenital ulcerated plaque on the back of his left foot. A partial excision was performed and histopathologic examination confirmed a diagnosis of a plexiform fibrohistiocytic tumor. This rare tumor usually appears in children and adolescents, with congenital presentations even more uncommon. This case details the exceptional presentation of a congenital ulcerated plexiform fibrohistiocytic tumor with a review of the current literature. [ABSTRACT FROM AUTHOR]

Unlabelled: Primary care providers commonly obtain spine ultrasounds for neonates with simple sacral dimples due to perceived concerns about underlying spinal dysraphism, despite a lack of scientific evidence. Nine papers addressing routine spine ultrasounds for children with sacral dimples showed that 3.4% of the 5166 patients had abnormal spine ultrasounds, compared with the 4.8% reported by another study for children without sacral dimples. Most of the abnormal findings in patients with sacral dimples were of no clinical significance.Conclusion: Sacral dimples do not predict underlying spinal cord malformations, and spine ultrasounds should not be performed for neonates with simple sacral dimples. [ABSTRACT FROM AUTHOR]

Aim: Postnatal hypoglycaemia increases the risk of adverse neurological outcomes in newborn infants, and adequate glucose control requires repetitive and painful blood sampling. This study evaluated a continuous glucose monitoring system (CGMS) that aims to improve glucose control and decrease the frequency of blood samples taken from neonates.Methods: CGMS sensors, which measure glucose values every five minutes and require calibration twice a day, were placed on 20 infants at risk of hypoglycaemia. The infants also underwent blood glucose sampling, and the blood glucose values were compared with CGMS values six times during the first 30 minutes after sampling.Results: We used 97/264 (37%) of the blood glucose values taken for the CGMS calibration. The highest accuracy, a mean of 0.22 (95% confidence interval 0.13-0.30 mmol/L), was found 15-19 minutes after sampling, due to the calibration process. No significant subcutaneous glucose time lag was detectable.Conclusion: The CGMS system was an accurate and feasible method for glucose control, provided earlier detection of hypoglycaemia in newborn infants and reduced their exposure to procedural pain. The delay in calibration in infants was a new finding and needs to be taken into account when comparing CGMS readings to blood glucose values. [ABSTRACT FROM AUTHOR]

Aim: Clitoral size references are useful for diagnosing genital abnormalities. Despite the fact that examining the genitalia is an important aspect of newborn evaluation, few studies have been carried out to determine normal clitoral size in newborn infants. The aim of this study was to establish reference values for clitoral size in Nigerian newborn girls and to compare them with references from other ethnic populations.Methods: A total of 244 healthy newborn girls delivered at 28-43 weeks gestation were enrolled in the study, and clitoral lengths and widths were measured at <72 hours.Results: The mean clitoral length was 7.7 mm with a standard deviation of ±1.37 mm, while the mean clitoral width was 4.40 ± 0.89 mm. The clitoral length was significantly longer than those reported for Caucasian (4.00 ± 1.24 mm), Korean (3.82 ± 1.47), Turkish (4.93 ± 1.61) and Japanese (4.30 ± 1.10) babies.Conclusion: The present results make it possible to evaluate clitoral size in Nigerian newborn baby girls in an objective way, to identify genital abnormalities and endocrine disorders. Based on this study, a clitoral length of more than 10 mm would be considered clitoromegaly in a newborn girl in Nigeria. [ABSTRACT FROM AUTHOR]

Aim: Neonatal screening for sickle cell anaemia is not common practice in the Democratic Republic of Congo, and we determined the prevalence in children with unknown electrophoresis of haemoglobin and anaemia.Methods: A cross-sectional study was conducted in four hospitals in the country's capital Kinshasa.Results: We screened 807 patients with anaemia (Hb < 6 g/dL) for sickle cell disease. The overall mean age at presentation was 42.7 months ± 29.7 months, and most patients (76.3%) were less than five years of age, with a peak incidence at seven to 36 months of age (45%). The median age at the first transfusion was 29 months (range 4-159 months). Of these 807 children, 36 (4.5%) were homozygous for haemoglobin S disease and 45 (5.6%) were heterozygotes. The proportion of patients with homozygous sickle cell anaemia was slightly higher in children with a medical history of hand foot syndrome, in children who had received more than three transfusions and in children up to 36 months of age at their first transfusion.Conclusion: The high prevalence of sickle cell anaemia in children in Sub-Saharan Africa underlines the need for neonatal screening or, if that is not possible, screening of all children with severe anaemia to identify patients with the disease and provide early management. [ABSTRACT FROM AUTHOR]

Unlabelled: A systematic review and meta-analysis were performed to determine the effect of therapeutic hypothermia using low-technology methods, in settings with facilities for intensive care, in term or near-term infants with hypoxic-ischaemic encephalopathy on mortality, neurological morbidity at discharge and neurological morbidity at 6-24 months.Conclusion: Meta-analysis of three randomised controlled studies showed that low-technology therapeutic hypothermia in an intensive care setting significantly reduced the mortality and the neurological morbidity in survivors at discharge. [ABSTRACT FROM AUTHOR]

Background Nonverbal pediatric patients such as infants are unable to describe their pain, which leads to the lack of a gold standard scale for their pain assessment. The aim of this study was to estimate the diagnostic performance of Face, Legs, Activity, Cry, and Consolability ( FLACC) scale and Neonatal Infant Pain Scale ( NIPS) for infants' pain in the absence of a gold standard. Methods This prospective observational study recruited 202 postoperative infants, aged <12 months. Postoperative pain intensity was evaluated using FLACC and NIPS scales. The diagnostic performance of these two scales was to estimate using a Bayesian latent class model with conditional dependence. McNemar's test was applied to test whether NIPS and FLACC tests differ from each other. Results Under a combined model with conditional dependence, the median posterior sensitivity and specificity of the FLACC were 89.94% (95% CI: 78.48-96.83%) and 87.82% (95% CI: 78.6-95.23%), respectively. The sensitivity and specificity of the NIPS were 85.94% (95% CI: 72.15-95.6%) and 92.61% (84.05-97.52%), respectively. McNemar's test demonstrated no significant difference between FLACC and NIPS in either sensitivity or specificity. Conclusion Both the FLACC and NIPS have excellent sensitivity and specificity for pain assessment in infants. The comparison test showed that the FLACC scale was no different to the NIPS scale in sensitivity and specificity. [ABSTRACT FROM AUTHOR]

The price of sequencing all the DNA in a person's genome is falling so fast that, according to one biotech leader, soon it won't cost much more than flushing a toilet. Getting all that genomic data at an ever-lower cost excites the imaginations not only of biotech investors and researchers but also of the President and many members of Congress. They envision the data ushering in an age of 'personalized medicine,' where medical care is tailored to persons' genomes. The new name 'precision medicine' should not distract us from the fact that the genomic information it depends on is more complex, uncertain, and ambiguous than anyone had hoped, nor should it distract us from an important ethical point. Unfortunately, several developments of the last fifteen years suggest that, in our excitement about the technological capacity to gather genomic data at an ever lower cost, we are drifting away from what has long been a basic ethical commitment: to offer persons a process that enables them to provide informed consent before they or anyone else accesses their genetic information. [ABSTRACT FROM AUTHOR]

Trismus is a rare presentation affecting neonates, children, and adults. In newborns there are serious implications, with potential to affect feeding, cause airway problems, and make intubation difficult. Causes of trismus seen in the paediatric patient are discussed in this review article; they are divided into intra- and extra-articular types. The extra-articular group consists of congenital and acquired disorders. The acquired group includes infective causes such as tetanus, iatrogenic causes related to drugs, cancer or dental treatment, and trauma causing articulation difficulty or triggering a rare type of bone growth in myositis ossificans. Changes in the mouth resulting from oral submucous fibrosis can undergo malignant transformation. This review aims to raise awareness of potential causes of trismus in paediatric populations, helping clinicians identify the underlying pathology so appropriate strategies for treatment be applied, with the ultimate aim of improving long-term outlook and quality of life for affected children. [ABSTRACT FROM AUTHOR]

Aims There has been increasing evidence of a lack of public awareness of newborn screening and concern about inadequate consent being obtained from parents. Apprehension also exists in relation to storage and secondary use of screening samples. Our objective was to introduce a written consent process across Victoria as a means of strengthening programme transparency, quality and supporting parental choice. In addition, more comprehensive information covering all aspects of the programme was developed. Methods A 'two-stage' written consent protocol allowed parents to give separate consent for (i) their baby to be screened and (ii) secondary use of the sample in de-identified health research. At the time of sample collection, parents were asked to complete the consent form, included as part of the screening card. The protocol was piloted in four public hospitals and subsequently implemented statewide. Results Twelve months of laboratory data showed that although refusals for screening increased, overall participation remained above 99%. The percentage of parents opting out of research use was 6.5%. Provider compliance with the new protocol was high, with only 1.4% of cards received without a completed consent form. Conclusion This quality improvement project has demonstrated that parents can participate more fully in newborn screening without jeopardising high uptake. As a secondary benefit, the public health resource of stored cards can be maintained with parental support. Future work needs to examine the quality of consent being given by parents and investigation of the reasons why some choose to decline. [ABSTRACT FROM AUTHOR]

A letter to the editor is presented in response to the article regarding elevated mean neutrophil volume+CRP is a highly sensitive and specific predictor of neonatal sepsis.

Background Flow cytometric methods ( FCMs) are the contemporary standard for fetal red blood cell ( RBC) quantitation and fetomaternal hemorrhage ( FMH) detection. FCM provides greater sensitivity and repeatability relative to manual microscopic Kleihauer- Betke methods. FCM assays are not totally objective, employing subjective manual gating of fetal RBCs with measureable interobserver imprecision. We investigated Probability State Modeling to automate analysis of fetal RBCs using an assay for hemoglobin F ( HbF)-containing RBCs. Methods Two hundred human bloods were processed using the FMH QuikQuant™ assay (Trillium Diagnostics, Brewer, ME, USA). A Probability State Model ( PSM) was designed to enumerate fetal RBCs by selecting the three RBCs subpopulation based on differences in intensity levels of several parameters. The GemStone™ program uses a PSM that requires no operator intervention. Routine manual analysis by experienced users was performed, along with replicate analyses for both methods. Results The PSM by GemStone™ correlates strongly with the expert manual analysis, r2 = 0.9986. The mean absolute difference of the FMH results between GemStone™ and manual 'expert' analysis was 0.04% with no intermethod bias detected. Manual gating demonstrated coefficient of variations (CVs) of 10.6% for intra-analyst replicates and 22.6% for interanalyst imprecision. The interanalyst agreement in GemStone™ is a perfect correlation, r2 = 1.00, and no imprecision with a 0.00% CV. Conclusion Automated PSM analysis of fetal RBCs strongly correlates with expert traditional manual analysis. PSM enumerates fetal RBCs accurately with significantly greater objectivity and lower imprecision than the traditional manual gating method. Thus, PSM provides a means to markedly improve interlaboratory variance with FMH assays based upon subjective gating strategies. [ABSTRACT FROM AUTHOR]

Objective To determine which combination of cardiac parameters provides the best prediction of postnatal coarctation of the aorta (CoAo) in fetuses with cardiac asymmetry. Methods We selected all cases of disproportion of the ventricles and great vessels prenatally diagnosed between 2003 and 2010 at the Hospital Vniversitario '12 de Octubre', Madrid, Spain. Only appropriate-for-gestational age liveborn fetuses with isolated cardiac asymmetry and with complete postnatal follow-up were included in the study. Eighty-five cases were retrieved and analyzed. Logistic regression analysis was used to select the best predictors of CoAo. Optimal cut-offs for these parameters were identified and the corresponding likelihood ratios used to calculate the post-test probability of CoAo in each fetus. Results CoAo was confirmed in 41/85 neonates (48%). The parameters selected by logistic regression and their cut-off values were: gestational age at diagnosis ⩽ 28 weeks, Z-score of diameter of the ascending aorta ⩽ -1.5, pulmonary valve/aortic valve diameters ratio ⩾1.6 and Z-score of the aortic isthmus diameter in the three vessels and trachea view ⩽-2. We divided the study group into two subgroups: Group A, in whom the diagnosis was made at ⩽28 weeks' gestation (80% CoAo (32/40)); and Group B, in whom the diagnosis was made at >28 weeks (20% CoAo (9/45)). The mean post-test probabilities of CoAo were higher in fetuses with CoAo than in normal fetuses in both subgroups (Group A, 82 vs 55%; P = 0.002 and Group B, 51 vs 20%; P <0.001). In addition, a rate of growth ofthe aortic valve of⩽ 0.24 mm/week provided 80% sensitivity and 100% specificity for predicting CoAo in Group A. Conclusions We have derived a multiparametric scoring system, combining size-based cardiac parameters and gestational age at diagnosis, which may improve the accuracy of fetal echocardiography for the stratification of the risk of CoAo. The objectivity and simplicity of its components may allow its implementation in fetal cardiology units [ABSTRACT FROM AUTHOR]

Introduction Neonatal sepsis remains an important clinical syndrome despite advances in neonatology. Current hematology analyzers can determine cell volume ( V), conductivity for internal composition of cell ( C) and light scatter for cytoplasmic granularity and nuclear structure ( S), and standard deviations which are effective in the diagnosis of sepsis. Statistical models can be used to strengthen the diagnosis. Effective modeling of molecular activity ( EMMA) uses combinatorial algorithm of the selection parameters for regression equation based on modified stepwise procedure. It allows obtaining different regression models with different combinations of parameters. Methods We investigated these parameters in screening of neonatal sepsis. We used LH780 hematological analyzer (Beckman Coulter, Fullerton, CA, USA). We combined these parameters with interleukin-6 ( IL-6) and C-reactive protein ( CRP) and developed models by EMMA. Results A total of 304 newborns, 76 proven sepsis, 130 clinical sepsis and 98 controls, were enrolled in the study. Mean neutrophil volume ( MNV) and volume distribution width ( VDW) were higher in both proven and clinical sepsis groups. We developed three models using MNV, VDW, IL-6, and CRP. These models gave more sensitivity and specificity than the usage of each marker alone. Conclusions We suggest to use the combination of MNV and VDW with markers such as CRP and IL-6, and use diagnostic models created by EMMA. [ABSTRACT FROM AUTHOR]

Introduction This study evaluated a new product for flow cytometric foetomaternal haemorrhage ( FMH) quantitation, Trillium Quik Quant anti- Hb F FITC kit ( Trillium Diagnostics, USA), in comparison with the Millipore anti- Hb F FITC method. Methods Blood from 67 antenatal or postpartum Rh D-negative women together with 108 samples spiked with 0.2%, 0.4%, 0.6%, 2%, 4%, 5%, 6%, 8% and 10% of foetal red cells were analysed by both methods. Results Results for both methods were linear to 10% foetal red cells. Analysis using the Wilcoxon test found that there was no difference between the paired results of Trillium Quik Quant and the expected values of the spiked samples ( P = 0.48). In contrast, Millipore anti- Hb F FITC gave statistically higher results compared with both the expected values and Trillium Quik Quant anti- Hb F FITC ( P = 0.0003 and P < 0.0001, respectively). The Bland- Altman plot for Trillium Quik Quant showed a mean difference of only 0.06% below the expected values, whilst Millipore was 0.13% above. The analysis time with Trillium Quik Quant was approximately 40 min, requiring significantly less hands-on time than the Millipore method that required an additional four wash steps. Conclusion Trillium Quik Quant is a new precise, accurate and rapid flow cytometric kit method for the quantitation of FMH in both the antenatal and postpartum period. [ABSTRACT FROM AUTHOR]

A 37-year-old Asian woman, gravid 0 para 0, was admitted to our hospital at 34 weeks and 5 days of her pregnancy for management of preeclampsia. A few days after admission, she recognized diminished fetal movement, and a non-stress test revealed a non-reassuring fetal heart rate pattern with decreased variability. A female baby weighing 1840 g was delivered by emergency cesarean section with Apgar scores of 5 and 5 at 1 and 5 min, respectively. Significant neonatal anemia with a hemoglobin level of 4.3 g/dL was observed. The elevated level of hemoglobin F (HbF) in the maternal blood accounted for 4.6% (normal ≦ 0.5%), and was indicative of the presence of fetomaternal hemorrhage (FMH). Microscopic examination of the placenta revealed chorioangioma. We report here a rare case of FMH with intraplacental chorioangioma, and discuss the relationship between these two pathologies. [ABSTRACT FROM AUTHOR]

Objective. To compare the neonatal outcome between planned vaginal or planned cesarean section (CS) breech delivery and planned vaginal vertex delivery at term with singleton fetuses. Design. A cohort study. Setting. Delivery Unit, Tampere University Hospital, Finland, with 5200 annual deliveries. Population. The term breech deliveries over a period of five years (January 2004 to January 2009), a total of 751 breech deliveries, and 257 vertex controls. Methods. The data were collected from the mother's medical records, including a summary of the newborn. In the case of neonatal health problems, the pediatric records were also examined. Main outcome measures. Maternal and neonatal mortality and morbidity as defined in the Term Breech Trial. Low Apgar scores or umbilical cord pH as secondary end-points. Results. There was no neonatal mortality. Severe morbidity was rare in all groups, with no differences between groups. The Apgar scores at one minute were lower in the planned vaginal delivery group compared with the other groups, but there was no difference at the age of five minutes. Significantly more infants in the vaginal delivery group had a cord pH < 7.05. There was one maternal death due to a complicated CS in the planned CS group and none in the other groups. Mothers in the planned CS group suffered significantly more often from massive bleeding and needed transfusions. Conclusions. Vaginal delivery remains an acceptable option for breech delivery in selected cases. [ABSTRACT FROM AUTHOR]

Background: In this study, we aimed to evaluate the role of fever, hypothermia, and temperature instability in term and preterm newborns during the first 3 days of life and to identify risk factors for early onset sepsis (EOS) among newborns presenting with these temperature symptoms. Methods: In this retrospective cohort study set in our level III neonatal intensive care unit, we included all newborns hospitalized within the first 24 h of life from 2004 to 2007. Results: Of 851 newborns, 127 presented with temperature symptoms during the first 3 days of life (15%): 69 had fever, 69 had hypothermia, and 55 had temperature instability (8%, 8%, and 6%, respectively). Of 127 newborns presenting with temperature symptoms, 14 had culture-proven EOS/pneumonia (33% of all 42 newborns with culture-proven EOS/pneumonia), 67 had clinical EOS (30% of all 209 newborns with clinical EOS) and 46 were EOS-negative (8% of all 600 EOS-negatives). Factors associated with culture-proven EOS/pneumonia in newborns presenting with temperature symptoms were maternal fever ( P= 0.009), chorioamnionitis ( P < 0.001), antibiotic therapy of the mother ( P= 0.04), poor skin color ( P= 0.001) and syndrome of persistent fetal circulation ( P= 0.01). Conclusions: Every seventh newborn hospitalized at our neonatal intensive care unit developed fever, hypothermia and/or temperature instability during the first 3 days of life. Two-thirds of them had culture-proven or clinical sepsis. Temperature symptoms were rarely observed in EOS-negative newborns (8%) but despite low sensitivity, were highly specific for bacterial infection in preterm and term newborns. [ABSTRACT FROM AUTHOR]

Newborn screening (NBS) is a public health program aimed at identifying treatable conditions in presymptomatic newborns to avoid premature mortality, morbidity, and disabilities. Currently, every newborn in the Unites States is screened for at least 29 conditions where evidence suggests that early detection is possible and beneficial. With new or improved treatment options and development of high-throughput screening tests, additional conditions have been proposed for inclusion into NBS programs. Among those are several conditions with a strong neuronopathic component. Some of these conditions have already been added to a few national and international screening programs, whereas others are undergoing pilot studies to determine the test performance metrics. Here, we review the current state of NBS for 13 lysosomal storage disorders, X-adrenoleukodystrophy, Wilson disease, and Friedreich ataxia. © 2013 Wiley Periodicals, Inc. Dev Disabil Res Rev 2013;17:247-253. [ABSTRACT FROM AUTHOR]

Primary immunodeficiencies (PID) encompass more than 250 disease entities, including phagocytic disorders, complement deficiencies, T cell defects, and antibody deficiencies. While differing in clinical severity, early diagnosis and treatment is of considerable importance for all forms of PID to prevent organ damage and life-threatening infections. During the past few years, neonatal screening assays have been developed to detect diseases hallmarked by the absence of T or B lymphocytes, classically seen in severe combined immunodeficiencies (SCID) and X-linked agammaglobulinemia (XLA). As described in this review, a reduction or lack of T and B cells in newborns is also frequently found in several other forms of PID, requiring supplemental investigation and involving the development of additional technical platforms in order to help classify abnormal screening results. [ABSTRACT FROM AUTHOR]

Early detection of primary immunodeficiency is recognized as important for avoiding infectious complications that compromise outcomes. In particular, severe combined immunodeficiency (SCID) is fatal in infancy unless affected infants can be diagnosed before the onset of devastating infections and provided with an immune system through allogenic hematopoietic cell transplantation, enzyme replacement, or gene therapy. A biomarker of normal T cell development, T cell receptor excision circles (TRECs), can be measured in DNA isolated from the dried blood spots routinely obtained for newborn screening; infants identified as lacking TRECs can thus receive confirmatory testing and prompt intervention. Early results of TREC testing of newborns in five states indicate that this addition to the newborn screening panel can be successfully integrated into state public health programs. A variety of cases with typical SCID genotypes and other T lymphocytopenic conditions have been detected in a timely manner and referred for appropriate early treatment. [ABSTRACT FROM AUTHOR]

In a case-control study of infant leukaemia, we assessed agreement between medical records and mother's self-reported pregnancy-related conditions and procedures and infant treatments. Interview and medical record data were available for 234 case and 215 control mothers. Sensitivity, specificity and predictive values for maternal report were estimated for case and control mothers separately, taking the medical record as correct. For most perinatal conditions, sensitivity and specificity were over 75%. Low sensitivity was observed for maternal protein or albumin in the urine (cases: 12% [95% exact confidence interval (CI) 8%, 18%]; controls: 11% [95% CI 7%, 17%]) and infant supplemental oxygen use (cases: 25% [95% CI 11%, 43%]; controls: 24% [95% CI 13%, 37%]). Low specificity was found for peripheral oedema (cases: 47% [95% CI 37%, 58%]; controls: 54% [95% CI 43%, 64%]). Sensitivity for maternal hypertension appeared much lower for cases (cases: 46% [95% CI 28%, 66%]; controls: 90% [95% CI 70%, 99%]; P = 0.003). We did not detect other case-control differences in recall (differentiality), even though the average time between childbirth and interview was 2.7 years for case and 3.7 years for control mothers. Many conditions exhibited notable differences between interview and records. We recommend use of multiple measurement sources to allow both cross-checking and synthesis of results into more accurate measures. [ABSTRACT FROM AUTHOR]

Background The differential diagnosis of various types and forms of diabetes is of great practical importance. This is particularly true for monogenic disease forms, where some spectacular applications of pharmacogenetics have recently been described. Design For many years the distinct character of diabetes diagnosed in the first weeks and months of life remained unnoticed. The results of the search for type 1 diabetes-related autoantibodies, description of the HLA haplotypes distribution and analysis of clinical features in patients diagnosed in the first 6 months of life provided the initial evidence that the etiology of their disease might be different from that of autoimmune diabetes. Results Over the last decade, mutations in about a dozen of genes have been linked to the development of Permanent Neonatal Diabetes Mellitus (PNDM). The most frequent causes of PNDM are heterozygous mutations in the KCNJ11, INS and ABCC8 genes. Although PNDM is a rare phenomenon (one case in about 200 000 live births), this discovery has had a large impact on clinical practice as most carriers of KCNJ11 and ABCC8 gene mutations have been switched from insulin to oral sulphonylureas with an improvement in glycemic control. In this review we summarize the practical aspects of diabetes differential diagnosis in neonates and infants. Conclusions Genetic testing should be advised in all subjects with PNDM as it may influence medical care in subjects with these monogenic forms of early onset diabetes. [ABSTRACT FROM AUTHOR]

Objectives To examine early fetal growth, pregnancyassociated plasma protein-A (PAPP-A) and free β-human chorionic gonadotropin (β-hCG) in relation to the risk of delivering a small-for-gestational age (SGA) infant. Methods Included in the study were 9450 singleton pregnant women who attended the prenatal screening program at Aarhus University Hospital, Denmark, between January 2005 and December 2007. Maternal serum levels of PAPP-A and free β-hCG were measured between gestational weeks 8 and 13. Two ultrasound examinations were performed, the first at 11-13 weeks and the second at 18-22 weeks, from which gestational age was estimated based on crown-rump length and biparietal diameter, respectively. Early fetal growth was expressed as an index: the ratio between the estimated number of days from the first to the second scan and the actual calendar time elapsed in days. SGA was defined as birth weight <5th centile for gestational age, and the risk of SGA was evaluated according to different cut-offs of the early fetal growth index and the serum markers. Results PAPP-A <0.4MoM combined with an early fetal growth index <10th centile resulted in an increased risk of SGA (odds ratio (OR), 5.8; 95% CI, 2.7-12.7). Low PAPP-A, low free β-hCG and slow early fetal growthwere statistically, independently associated with SGA, and the association between free β-hCG <0.3 MoM and SGA was as strong as that between PAPP-A <0.3 MoM and SGA (OR, 3.1 and 3.0, respectively). Conclusion The combination of slow early fetal growth and low PAPP-A resulted in a nearly six-fold increased risk of delivery of an SGA infant. These findings might improve our chances of early identification of fetuses at increased risk of growth restriction. [ABSTRACT FROM AUTHOR]

Neonatal lupus erythematosus is an uncommon maternal auto-antibody-associated disease characterized by cutaneous, cardiac, hepatic, hematological, neurological, and pulmonary involvement. A retrospective study was performed to review clinical manifestations, investigation results, outcomes of neonatal lupus erythematosus patients and their mothers at the Department of Pediatrics, Siriraj Hospital during 1993 to 2008. Seventeen neonatal lupus erythematosus patients (10 girls and seven boys) were identified. Cutaneous, cardiac, hepatobiliary, and hematological involvement was found in 70.6%, 64.7%, 52.9%, and 35.3% of infants, respectively. Skin lesions were erythematous patches (91.7%), subacute cutaneous lupus erythematosus (50%), petechiae (41.7%), persistent cutis marmorata (16.7%), and discoid lesions (8.3%). Congenital heart block was found in nine cases, and structural abnormalities were found in nine cases. All sera of patients were positive for antinuclear antibodies. Patients (87.5%) showed positive antiRo/SSA, and 50% had positive antiLa/SSB antibodies. Most neonatal lupus erythematosus mothers (64.7%) were asymptomatic. Five mothers were diagnosed with systemic lupus erythematosus, and one mother was diagnosed with mixed connective tissue disease. All maternal sera was positive for antinuclear antibodies and antiRo/SSA antibody. Seven patients required pacemaker implantation. The mortality rate was 11.8%, caused by congestive heart failure and pneumonia. Antinuclear antibody tests should be used as one of the screening tests in mothers or patients suspected of having neonatal lupus erythematosus. [ABSTRACT FROM AUTHOR]