Search

Objective  The aim of this study is to evaluate high-risk pregnant females' offspring as regard the presence of any medical condition, hereditary disorder, or major anomaly as well as to document parental sociodemographic characteristics and compliance with follow-up schedules of fetal medicine and clinical genetic clinics. Study Design  This prospective 2-year cohort study of neonates and infants reported the referral indications, investigations, and diagnoses obtained through prenatal and postnatal examinations. It also reported their parental follow-up vigilance. Results  Of the 811 infants of high risk females referred 460 (56.7%) came for assessment. Mean parental consanguinity and endogamy were 67 and 71.3%, respectively. All pregnant mothers underwent first-trimester biochemical testing (plasma protein-A, α-fetoprotein [AFP], human chorionic gonadotropin [hCG]) and serial ultrasound examinations. Seventy mothers needed second-trimester biochemical testing (AFP, hCG, and estriol). Sixty-two mothers underwent amniocentesis where G-banding karyotype, fluorescence in situ hybridization and targeted molecular testing for the specific gene mutation of single gene disorders were conducted according to suspected disorders. High quality fetal ultrasound was performed when brain malformations were suspected, while 16 fetuses required brain MRI examination. Mean age of newborns at first examination was 26.5 days. They were grouped according to the maternal indication for referral. Upon examination, 18 neonates had confirmed congenital malformations/genetic disorders. Five of them were diagnosed prenatally. In four other fetuses with single gene disorder, the molecular diagnosis of their affected siblings was not established prior to this pregnancy; thus, prenatal diagnosis was not possible. The remaining nine cases were diagnosed postnatally. Conclusion  Parental consanguinity and endogamy were increased among high-risk pregnancies. Public awareness about potential adverse effects of consanguineous marriages and the importance of genetic testing are imperative. A structured multidisciplinary team of specialists in fetal medicine, clinical genetics, and neonatology provides good genetic services. Expansion and financial support of these services are urgently required. Key Points A multidisciplinary team provides good genetic services in high-risk pregnancies. Parental consanguinity and endogamy are increased among high-risk pregnancies. Increased public awareness about genetic testing importance and financial support are imperative. [ABSTRACT FROM AUTHOR]

Monoamniotic twins represent a high-risk pregnancy requiring intense follow-up, elective birth and careful consideration of the mode and timing of delivery. We conducted this study to evaluate the perinatal and neonatal outcomes of monoamniotic twin pregnancies in the largest tertiary hospital in Finland. This was a retrospective cohort study including all monoamniotic twin pregnancies during a 17-year period (2002–2018) managed in Helsinki University Hospital. Data on mothers and children were collected from patient files. Chorionicity and amnionicity were defined in first-trimester ultrasound screening. There were altogether 31 monoamniotic twin pregnancies during the study period, including four cases of conjoined twins which all underwent termination of pregnancy, and three miscarriages. In the remaining 24 pregnancies that continued past 24 weeks of gestation there was 97.9% survival (one intrauterine death). Three pregnancies were complicated with twin-to-twin transfusion syndrome. All children were delivered by cesarean section with a mean gestational age of 32 + 5 weeks (27 + 1–34 + 2 weeks). Respiratory distress syndrome (RDS) was observed in 57% (27/47) of neonates and grade I–II intraventricular haemorrhage (IVH) in 6.3% (3/47) of neonates. There were no neonatal deaths and no maternal complications. Monoamniotic twinning is a rare form of pregnancy and carries risks for perinatal and neonatal complications. With timely diagnosis, close monitoring in specialized feto-maternal unit and elective delivery at 32–34 weeks the outcome is usually excellent. [ABSTRACT FROM AUTHOR]

Objective  Positive CSF culture is the gold standard for the diagnosis of meningitis but it carries poor sensitivity. CSF procalcitonin (PCT) is shown to have some utility for the diagnosis of meningitis though there are limited studies in neonatal age group. We planned this study to compare CSF, serum, and CSF to serum PCT levels in neonates with confirmed, probable, and nonmeningitis groups to determine its optimal cut-off in CSF and serum for diagnosing meningitis. Study Design  Sixty-seven neonates who qualified for lumbar puncture were enrolled in the study. Neonates were categorized into confirmed meningitis, i.e., CSF cytochemistry and culture positive (N  = 17), probable meningitis, i.e., CSF cytochemistry positive but culture negative (N  = 25) and nonmeningitis, i.e., both cytochemistry and culture negative (N  = 25). CSF and serum samples were stored at −80°C for PCT assay. Results  Significant difference was seen in mean of CSF PCT in neonates with confirmed (0.31 ng/mL), probable (0.22 ng/mL), and nonmeningitis (0.11 ng/mL) groups. Similarly, significant difference was observed in serum PCT levels also, though the ratio of serum to CSF PCT was comparable. At cut-off of 0.2 ng/mL, CSF PCT had sensitivity of 95.2% and specificity of 96% in the diagnosis of meningitis. Conclusion  CSF PCT is more specific marker for the diagnosis of neonatal meningitis as compared with serum PCT and CSF to serum PCT ratio. Key Points CSF procalcitonin is a better marker than serum procalcitonin for diagnosing neonatal meningitis. It is better than serum procalcitonin and CSF to serum procalcitonin ratio. At cut-off of >0.2 ng/mL CSF procalcitonin can diagnose neonatal meningitis with 96% specificity. [ABSTRACT FROM AUTHOR]

Biallelic variants in the pancreas-specific transcription factor 1A (PTF1A) gene are a rare cause of permanent neonatal diabetes. We report a case of neonatal diabetes with unique clinical manifestations. The clinical diagnosis of the affected infant was confirmed by insufficient endocrine and exocrine pancreas activity; however, the pancreas was normal in imaging. Molecular analyses identified a novel homozygous single nucleotide variant (Chr10, g.23508441T > G), affecting a highly conserved nucleotide within a distal enhancer of the PTF1A gene. The literature review showed that most of these patients had IUGR and imaging evidence of pancreatic agenesis or hypoplasia. We suggest that pancreatic imaging and evaluation of exocrine pancreas function can help early confirmation of the diagnosis in patients with permanent neonatal diabetes. [ABSTRACT FROM AUTHOR]

Considering the effects of bile-acid levels on fetal lungs and pulmonary surfactants, we hypothesized that in the presence of intrahepatic pregnancy cholestasis (ICP), poor neonatal respiratory problems are observed in relation to the severity of the disease. Delivery timing with the presence of ICP is scheduled during late-preterm and early term gestational weeks. The aim of this study was to assess ICP and disease severity effects on transient tachypnea of the newborn (TTN) in uncomplicated fetuses. This study comprised 1,097 singleton pregnant women who were separated into three groups—control, mild ICP, and severe ICP. The pregnant women diagnosed with ICP between January 2010 and September 2020 was investigated using the hospital's database. For the control group, healthy pregnant women who met the same exclusion criteria and were similar in terms of maternal age, gestational age at delivery, and mode of delivery were analyzed. The TTN rate was 14.5% in the severe ICP group, 6.5% in the mild ICP group, and 6.2% in the control group. The TTN rate in the severe ICP group was significantly higher than that in the other groups (p<0.001). Similarly, the rate of admission to the neonatal intensive care unit was significantly higher in the severe ICP group than in the other groups (p<0.001). According to Pearson correlation analyses, maternal serum bile–acid levels were positively correlated with TTN (r=0.082; p=0.002). Severe ICP, but not mild ICP, and serum bile–acid levels were positively correlated with increased TTN risk and reduced pulmonary surfactant levels. [ABSTRACT FROM AUTHOR]

To investigate the characteristics and management of respiratory failure (RF) in moderate-to-late preterm infants. NEOBS was a prospective, multicenter, observational study conducted in 46 neonatal intensive care units caring for preterm infants (30 + 0/7 to 36 + 6/7 weeks of gestation [WG]) in France in 2018. The cohort was stratified into two groups: 30–33 WG (group 1) and 34–36 WG (group 2). Infants with early neonatal RF were included and the outcomes assessed were maternal, pregnancy, and delivery characteristics and how RF was managed. Of the 560 infants analyzed, 279 were in group 1 and 281 were in group 2. Most pregnancies were singleton (64.1%), and 67.4% of women received prenatal corticosteroids (mostly two doses). Infants were delivered by cesarean section in 59.6% of cases; 91.7% of the infants had an Apgar score ≥ 7 at 5 min. More than 90% of infants were hospitalized post-birth (median duration, 36 and 15 days for groups 1 and 2, respectively). Medical intervention was required for 95.7% and 90.4% of the infants in group 1 and group 2, respectively, and included noninvasive ventilation (continuous positive airway pressure [CPAP]: 88.5% and 82.9%; high-flow nasal cannula: 55.0% and 44.7%, or other) and invasive ventilation (19.7% and 13.2%). The two main diagnoses of RF were respiratory distress syndrome (39.8%) and transient tachypnea of the newborn (57.3%). Surfactant was administered to 22.5% of the infants, using the less invasive surfactant administration (LISA) method for 34.4% of the patients. In the overall population, 8.6% of the infants had respiratory and/or hemodynamic complications. The NEOBS study demonstrated that CPAP was widely used in the delivery room and the LISA method was chosen for 34.4% of the surfactant administrations for the management of RF in moderate-to-late preterm infants. The incidence of RF-related complications was low. [ABSTRACT FROM AUTHOR]

Background. Early diagnosis of hypoxic-ischaemic encephalopathy (HIE) is crucial in preventing neurodevelopmental disabilities and reducing morbidity and mortality. The study was to investigate the plasma metabolic signatures in the peripheral blood of HIE newborns and explore the potential diagnostic biomarkers. Method. In the present study, 24 newborns with HIE and 24 healthy controls were recruited. The plasma metabolites were measured by gas chromatography-mass spectrometry (GC-MS), and the raw data was standardized by the EigenMS method. Significantly differential metabolites were identified by multivariate statistics. Pathway enrichment was performed by bioinformatics analysis. Meanwhile, the diagnostic value of candidate biomarkers was evaluated. Result. The multivariate statistical models showed a robust capacity to distinguish the HIE cases from the controls. 52 metabolites were completely annotated. 331 significantly changed pathways were enriched based on seven databases, including 33 overlapped pathways. Most of them were related to amino acid metabolism, energy metabolism, neurotransmitter biosynthesis, pyrimidine metabolism, the regulation of HIF by oxygen, and GPCR downstream signaling. 14 candidate metabolites showed great diagnostic potential on HIE. Among them, alpha-ketoglutaric acid has the potential to assess the severity of HIE in particular. Conclusion. The blood plasma metabolic profile could comprehensively reflect the metabolic disorders of the whole body under hypoxia-ischaemic injury. Several candidate metabolites may serve as promising biomarkers for the early diagnosis of HIE. Further validation based on large clinical samples and the establishment of guidelines for the clinical application of mass spectrometry data standardization methods are imperative in the future. [ABSTRACT FROM AUTHOR]

Aim: The study aims to evaluate the effect of thyroid hormone levels on the development of transient tachypnea of the newborn (TTN) and neonatal outcomes in preterm and term infants during hospitalization. Methods: Eighty-seven newborns with gestational age ≥34 weeks admitted to neonatal intensive care unit (NICU) between January 2016 and December 2019 were enrolled in our retrospective study. The hospital database system and patient files were scanned for data collection. Infants were divided into three groups (late preterm, early term, and term). Maternal features and demographic characteristics, thyroid hormones, neonatal outcomes during hospitalization of newborns with TTN were recorded. Results: The mean fT4 level was 1.51±0.33 ng/dL and the median thyroid-stimulating hormone (TSH) level was 3.1 mIU/L. Among 87 infants, 21 were late-preterm, 41 were early-term, and 25 were term infants. There was no difference in the mode of delivery, gender, need, and duration of mechanical ventilation, and non-invasive ventilation or O2 therapy. The mean fT4 level was 1.35±0.29 ng/dL in late preterms 2.5±2.1 ng/dL in early terms and 1.56±0.25 ng/dL in term infants. Late preterms had a lower fT4 level than early term and term groups which was statistically significant but no difference was present between subgroups in TSH levels. Conclusion: Evaluation of thyroid function should be considered especially in preterm babies hospitalized to NICU because of respiratory distress for an individualized approach if treatment is needed. [ABSTRACT FROM AUTHOR]

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]

Ischemic brain injury provokes complex, time-dependent downstream pathways that ultimately lead to cell death. We aimed to demonstrate the levels of a wide range of metabolites in brain lysates and their on-tissue distribution following neonatal stroke and cell therapies. Postnatal day 12 mice underwent middle cerebral artery occlusion (MCAO) and were administered 1 × 105 cells after 48 h. Metabolomic analysis of the injured hemisphere demonstrated that a variety of amino acids were significantly increased and that tricarboxylic acid cycle intermediates and some related amino acids, such as glutamate, were decreased. With the exception of the changes in citric acid, neither mesenchymal stem/stromal cells nor CD34+ cells ameliorated these changes. On-tissue visualization with matrix-assisted laser desorption/ionization-mass spectrometry (MALDI-MS) imaging revealed that the signal intensity of glutamate was significantly decreased in the infarct area, consistent with the metabolomic analysis, while its intensity was significantly increased in the peri-infarct area after MCAO. Although cell therapies did not ameliorate the changes in metabolites in the infarct area, mesenchymal stem cells ameliorated the increased levels of glutamate and carnitine in the peri-infarct area. MALDI-MS imaging showed the location-specific effect of cell therapies even in this subacute setting after MCAO. These methodologies may be useful for further investigation of possible treatments for ischemic brain injury. [ABSTRACT FROM AUTHOR]

In the article, the authors discuss the benefits and disadvantages of newborn screening (NBS) for rare diseases. Topics include the recommendation by the U.S. Centers for Disease Control and Prevention (CDC) of NBS, the promising results of NBS for cystic fibrosis (CF) in randomized controlled trials, and the potential harms of false-positive or false-negative NBS results to patients.

Objective: To compare neonatal intensive care unit (NICU) or special care nursery admission for deliveries with water immersion compared with deliveries in the matched control group without water immersion. Secondary outcomes included adverse neonatal diagnoses, maternal infections, and perineal lacerations.Methods: We conducted a retrospective study using electronic health record data (2014-2018) from two health systems (eight hospitals), with similar clinical eligibility, associated with low risks of intrapartum complications, and implementation policies for waterbirth. The water immersion group included women intending waterbirth. Water immersion was recorded prospectively during delivery. The comparison population were women who met the clinical eligibility criteria for waterbirth but did not experience water immersion during labor. Comparison cases were matched (1:1) using propensity scores. Outcomes were compared using Fischer's exact tests and logistic regression with stratification by stage of water immersion.Results: Of the 583 women with water immersion, 34.1% (199) experienced first-stage water immersion only, 65.9% (384) experienced second-stage immersion, of whom 12.0% (70) exited during second stage, and 53.9% (314) completed delivery in the water. Neonatal intensive care unit or special care nursery admissions were lower for second-stage water immersion deliveries than deliveries in the control group (odds ratio [OR] 0.3, 95% CI 0.2-0.7). Lacerations were lower in the second-stage immersion group (OR 0.5, 95% CI 0.4-0.7). Neonatal intensive care unit or special care nursery admissions and lacerations were not different between the first-stage immersion group and their matched comparisons. Cord avulsions occurred for 0.8% of second-stage water immersion deliveries compared with none in the control groups. Five-minute Apgar score (less than 7), maternal infections, and other adverse outcomes were not significantly different between either the first- or second-stage water immersion groups and their control group.Conclusion: Hospital-based deliveries with second-stage water immersion had lower risk of NICU or special care nursery admission and perineal lacerations than matched deliveries in the control group without water immersion. [ABSTRACT FROM AUTHOR]

Objective: To evaluate characteristics associated with adverse outcomes in low-risk nulliparous women randomized to elective labor induction at 39 weeks of gestation or expectant management.Methods: We conducted a secondary analysis of women randomized during the 38th week to induction at 39 weeks of gestation or expectant management. Deliveries before 39 weeks of gestation and those not adherent to study protocol or with fetal anomalies were excluded. A composite of adverse outcomes (perinatal death or severe neonatal complications), third- or fourth-degree lacerations, and postpartum hemorrhage were evaluated. Log binomial regression models estimated relative risks and 95% CIs for associations of outcomes with patient characteristics including randomly assigned treatment group. Interactions between patient characteristics and treatment group were tested.Results: Of 6,096 women with outcome data, 5,007 (82.1%) met criteria for inclusion in this analysis. Frequency of the perinatal composite was 252 (5.0%), 166 (3.3%) for third- or fourth-degree perineal laceration, and 237 (4.7%) for postpartum hemorrhage. In multivariable analysis, intended labor induction at 39 weeks of gestation was associated with a reduced perinatal composite outcome (4.1% vs 6.0%; adjusted relative risk [aRR] 0.71; 95% CI 0.55-0.90), whereas increasing body mass index (BMI) was associated with an increased perinatal composite outcome (aRR 1.04/unit increase; 95% CI 1.02-1.05). Decreased risk of third- or fourth-degree perineal laceration was observed with increasing BMI (aRR 0.96/unit increase; 95% CI 0.93-0.98) and in Black women compared with White women (1.2% vs 3.9%; aRR 0.34; 95% CI 0.19-0.60). Increased risk of postpartum hemorrhage was observed in Hispanic women compared with White women (6.3% vs 4.0%; aRR 1.64; 95% CI 1.18-2.29). Patient characteristics associated with adverse outcomes were similar between treatment groups (P for interaction >.05).Conclusion: Compared with expectant management, intended induction at 39 weeks of gestation was associated with reduced risk of adverse perinatal outcome. Patient characteristics associated with adverse outcomes were few and similar between groups.Clinical Trial Registration: ClinicalTrials.gov, NCT01990612. [ABSTRACT FROM AUTHOR]

Aim: Neonatal gastric perforation (NGP) is a rare, perplexing, life-threatening entity affecting neonates. We share our experience of operating upon cases of NGP s and highlight important points observed which may aid in further improving care of neonates, diagnosed with this entity. Materials and Methods: A retrospective analysis of all consecutive patients with NGP operated by the author, at various centers between January 2015 and December 2018, was carried out. We analyzed different variables for these and reached logical conclusions. Results: Between January 2015 and December 2018, we treated ten patients with gastric perforation. All the neonates were preterm, except one. Mean birth weight in our series was 1745 g (range 1300–2400 g). Deterioration in activity, worsening of sepsis, metabolic acidosis, increased ventilator requirements, and abdominal distension were prominent clinical features identified in all patients. All patients subsequently had massive pneumoperitoneum before surgery. Six patients had perforation along the greater curvature, two had perforation at the posterior wall, and two had near total gastric necrosis. We had four mortalities out of ten patients operated. Conclusion: NGP is associated with high mortality, especially in premature and low birth weight neonates. Severity of contributing factors in a premature predisposed neonate determines the severity of gastric necrosis, which in turn is an important prognostic factor. Certain preoperative signs can be useful and can aid in initiating preventive measures to curtail severity of the pathology. [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]

Background: The effect of different probes and operator experience on the reliability of lung ultrasound (LU) interpretation has not been investigated. We studied the effect of probes and operator experience on the interpretation reliability of LU in critically ill neonates.Methods: This was a prospective, blind, cohort study enrolling patients with basic patterns ("B," "severe B," consolidation). Patients were scanned with microlinear (15 MHz; L15), phased-array sectorial (6-12 MHz; S7), and microconvex (8 MHz; C8) probes, in random order. Static images were acquired in high resolution, anonymized, and included in a pictorial database in random sequences. Seventeen clinicians with different LU experience were asked to blindly assess the pictorial database. Interrater agreement and interpretation reliability were analyzed. Subanalyses according to expertise and probe, and multivariate linear regression (including an "expertise × probe" interaction factor), were also performed.Results: The agreement tends to be lower and more heterogeneous for residents (intraclass correlation coefficient [ICC], 0.82 [95% CI, 0.74-0.9], P < .001; I2, 67%, P = .04) and for fellows (ICC, 0.93 [95% CI, 0.9-0.97], P < .001; I2, 69%, P = .04), especially when using nonlinear probes, compared with senior physicians (ICC, 0.95 [95% CI, 0.93-0.96], P < .001; I2, 0%, P = .433). Area under the curve (AUC) values were high for all probes (L15, 0.96 [95% CI, 0.93-0.99]; C8, 0.91 [95% CI, 0.85-0.98]; S7, 0.86 [95% CI, 0.82-0.91]) and physicians (senior physicians, 0.95 [95% CI, 0.83-0.99]; fellows, 0.95 [95% CI, 0.75-0.99]; residents, 0.86 [95% CI, 0.5-0.99]). Worse reliability and higher heterogeneity were found when the evaluation was performed by residents (AUC, 0.9 [95% CI, 0.85-0.94], P < .01; I2, 93.6%, P < .001) than by fellows (AUC, 0.99 [95% CI, 0.9-0.999], P < .001; I2, 34.3%, P = .09) and/or by senior physicians (AUC, 0.99 [95% CI, 0.9-0.999], P < .001; I2, 18%, P = .236). The "expertise × probe" interaction factor was associated with lower ICC (standardized regression coefficient β, -0.69; P < .0001; adjusted R2, 0.99) and AUC (standardized regression coefficient β, -0.76; P < .0001; adjusted R2, 0.98).Conclusions: LU interpretation in neonates shows good interrater agreement and reliability, irrespective of the probe and rater expertise. The use of nonlinear probes by novice operators is associated with the lowest agreement and reliability. [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]

Objective: To evaluate the impact of cell-free fetal DNA (cfDNA) test on the number of invasive tests carried out in a public hospital that does not include this test in its services. Methods: This was a retrospective cohort study in singleton pregnancies with a high risk (>1:270) on the first-trimester screening for aneuploidies. The options of performing an invasive test or a cfDNA test were explained to all women, the latter being especially recommended to those with a 1:50–1:270 risk (Group 1). If the risk was >1:50 (Group 2), or nuchal translucency (NT) was >99th percentile or there were major malformations (Group 3), invasive test was recommended. Results: A total of 755 of 14,398 (5.2%) cases had a high-risk first-trimester screening, of whom 46 cases were excluded due to incomplete follow-up. In the remaining 709 cases, the percentage of aneuploidies was 9.9% (70 cases) and 110 opted for a cfDNA test (15.5%). There were two true-positive results of cfDNA (one in Group 2 and another in Group 3). In Group 1, 67.4% [95% confidence interval (CI) 60.0%–72.1%, P < 0.01] fewer invasive procedures were performed in those who opted for a cfDNA test, without having false negatives. Conclusion: Pregnant women with a 1:50–1:270 risk who opt for cfDNA save two out of three invasive tests, without affecting the aneuploidy detection rate. [ABSTRACT FROM AUTHOR]

Background: Our objective was to determine the predictive value of the prenatal diagnosis of isolated clubfoot in twin gestations compared to singleton gestations. Methods: A prospectively entered ultrasound database was reviewed for all pregnancies scanned at our institution from 2002 to 2014. Cases of suspected clubfoot were identified. Neonates with associated anomalies or aneuploidy, and patients who delivered at other institutions were excluded. Neonatal charts were reviewed for the confirmation of clubfoot. The chi-squared (χ2) test, Fisher's exact test and the Mann-Whitney U test were used in the analysis, with p < 0.05 considered significant. Results: Of those women who had prenatal ultrasound and subsequently delivered at our hospital, 84 pregnancies had isolated clubfoot suspected in the antenatal period. Of these pregnancies, 20 were twin gestations and 64 were singleton gestations. Overall, 51/84 (60.7%) pregnancies had clubfoot confirmed during the neonatal period. Of the twin pregnancies, only 35% (7/20) had a confirmed diagnosis of clubfoot at birth compared to 68.8% (44/64) of the singleton pregnancies (P = 0.008). Gestational age at diagnosis, breech presentation, neonatal gender, unilateral vs. bilateral clubfoot and suspicion of clubfoot in the presenting twin (Twin A) vs. the non-presenting twin (Twin B) did not correlate with an accurate diagnosis of clubfoot in twins. Conclusion: False-positive prenatal diagnosis of isolated clubfoot is more common in twin gestations compared to singletons. This may be due to transient malpositioning or a result of diminished space. Obstetric providers should consider the possibility of a false-positive diagnosis and use caution when counseling patients about a prenatal suspicion for clubfoot, especially in twin gestations. [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]

Purpose: In vitro fertilization (IVF) has become a very common procedure in the infertility practice due to its accessibility. The study is aiming at presenting two twin pregnancy-related infections caused by Listeria monocytogenes and reviewing the reported cases of listeriosis in multiple pregnancies.Materials and Methods: Two listeriosis cases with twin pregnancy after IVF were described and the literature on pregnancy-associated listeriosis was reviewed.Results: The risk of listeriosis should be underscored in pregnant women after IVF, and timely diagnosis and rational treatment might result in a better outcome.Conclusions: The current study highlights that the infections due to L. monocytogenes should be noted in multiple pregnancies after IVF. [ABSTRACT FROM AUTHOR]

Objective: The aim of the study was to examine the prevalence of birth defects among children born to Gulf War veterans. Methods: Seven hundred eighty-eight singleton children born after the war to 522 veterans (262 Gulf War-deployed. DV; 260 non-deployed, NDV) underwent physical examinations focusing on major and minor birth defects and other findings. Results: We found no differences between children of DV and NDV in the prevalence of major birth defects or other findings. However, children of DV women were more likely to have minor birth defects compared with children of NDV women (DV 22% NDV 4.8%, odds ratio: 5.47, confidence interval: 2.06, 14.55), mainly due to increased incidence of minor eye and musculoskeletal birth defects. Conclusions: Our data show that deployment of women to the Persian Gulf arena was associated with increased risk of minor birth defects in their offspring. [ABSTRACT FROM AUTHOR]

Background: Uterine synechia are bands of fibrous tissue that when seen on prenatal ultrasound are not felt to pose significant risk to a fetus outside of early pregnancy loss. On the contrary, amniotic bands are diagnosed when bands of amniotic tissue are found to entrap and possible amputate involved fetal parts. Case presentation: Ultrasound imaging demonstrated a twin pregnancy affected by entrapment of twin B's head in a uterine synechium versus an amniotic band at 11 weeks + 0 days. The entrapment persisted until the second trimester. After a review of still images and video clips with a fetal surgeon, the patient was scheduled for possible fetal surgery. Upon arrival at 16 weeks + 0 days, the entrapment was observed to have spontaneously resolved. The patient experienced preterm premature rupture of membranes at 17 weeks + 6 days, and developed chorioamnionitis at 18 weeks + 5 days. Shortly after diagnosis with chorioamnionitis, she delivered spontaneously at 18 weeks + 5 days. Postnatal hysteroscopy demonstrated uterine synechium at the uterine fundus, which was resected. Conclusions: This is the first case of fetal head entrapment by a uterine synechium. [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]

Objective: The aim of our study was to investigate the predictors of adverse perinatal outcomes in intrahepatic cholestasis of pregnancy (ICP) with dichorionic diamniotic (DCDA) twin pregnancies.Methods: This study was a retrospective study of women diagnosed with ICP and DCDA twin pregnancies in Chengdu's women and children's central hospital. These patients were subdivided into mild and severe ICP groups according to total bile acid (TBA) level. The clinical characteristics and perinatal outcomes were collected and compared between the two groups. Logistic regression analysis was developed to evaluate predictors of adverse perinatal outcomes.Results: About 134 cases were included in the study. Eighty-four cases were in the mild ICP group, and the other 50 cases were in the severe ICP group. Level of alanine aminotransferase (ALT), aspartate aminotransferase (AST), alkaline phosphatase (ALP), total bilirubin (TBIL), and direct bilirubin (DBIL) in the severe ICP group were significant higher than those in the mild ICP group. The rate of delivery before 34 gestational weeks, meconium-stained amniotic fluid, and composite adverse neonatal outcome were higher in the severe ICP group than those in the mild ICP group. After adjusting for confounders, ICP onset gestational age (GA) <30 weeks and AST >200U/l were associated with GA at delivery <34 weeks. ALP >400U/l was an independent risk factor of meconium-stained amniotic fluid. ICP onset GA <30 weeks was an independent risk factor of composite adverse neonatal outcome.Conclusion: ICP onset GA <30 weeks, TBA >40 µmol/l, AST >200U/l, and ALP >400U/l were associated with composite adverse perinatal outcomes in ICP with DCDA twin pregnancies. For those patients with these characteristics, fetal surveillance and treatment should be enhanced. [ABSTRACT FROM AUTHOR]

Background: Hypoglycaemia accounts for approximately one-tenth of term admissions to neonatal units can cause long-term neurodevelopmental impairment and is associated with the significant burden to the affected infants, families and the health system.Objective: To define the prevalence, length and cost of admissions for hypoglycaemia in infants born at greater than 35 weeks gestation and to identify antenatal and perinatal predictors of those outcomes.Materials and Methods: This was a retrospective audit of infants admitted for hypoglycaemia between 1 January 2012 and 31 December 2015, in a level three neonatal intensive care unit at King's College Hospital NHS Foundation Trust, London. The main outcome measures were the prevalence, length and cost of admissions for hypoglycaemia and antenatal and postnatal predictors of the length and cost of the stay.Results: There were 474 admissions for hypoglycaemia (17.8% of total admissions). Their median (IQR) blood glucose on admission was 2.1 (1.7-2.4) mmol/l, gestation at delivery 38.1 (36.7-39.3) weeks, birthweight percentile 31.4 (5.4-68.9), their length of stay was 3.0 (2.0-5.0). Admissions equated to a total of 2107 hospital days. The total cost of the stay was 1,316,591 Great Britain pound. The antenatal factors associated with admission for hypoglycaemia were maternal hypertension (19.8%), maternal diabetes (24.5%), foetal growth restriction (FGR) (25.9%) and pathological intrapartum cardiotocograph (23.4%). In 13.7% of cases, there was no associated pregnancy complication. Multivariate logistic regression analysis demonstrated lower gestational age, z-score birthweight squared, exclusive breastfeeding and maternal prescribed nifedipine were independently associated with the length and cost of the stay.Conclusion: Hypoglycaemia accounted for approximately one-fifth of admissions after 35-week gestation. Lower gestational age and admission blood glucose, low and high z-score birthweight, maternal nifedipine and exclusive breastfeeding are associated with longer duration of stay. [ABSTRACT FROM AUTHOR]

Objective: Assessment of adrenal function in a sick neonate remains a challenge in spite of major advances in neonatal care. We used 2D ultrasound of adrenal glands to assess maturity of adrenal glands in extremely preterm infants and sick term and near term infants.Study Design: We collected demographics details of 99 mother-infants pairs (24-41 weeks) and obtained 2D ultrasound scans of adrenal glands in first week of life to measure adrenal volume, fetal zone size, and adrenal to kidney ratios. Relationship between adrenal measurements, antenatal factors, and postnatal outcomes were studied.Results: We reported normative adrenal gland volume data during gestation from 80 appropriate for gestational age (AGA) infants. In a binary analysis, adrenal size was significantly related to gender, race, intrauterine growth restriction (IUGR), maternal chorioamnionitis, and maternal hypertension. Linear regression analysis showed that fetal zone is significantly related to not only gestational age but also chorioamnionitis and later development of intraventricular hemorrhage (IVH). Adrenal volume likewise is also related to gestational age, preeclampsia, and IVH.Conclusions: Antenatal maternal factors and uterine environment affects adrenal growth and development thus postnatal high resolution 2D US scan of adrenal glands can provide useful information to predict outcomes. This information can complement hormone and adrenocorticotrophic hormone (ACTH) stimulation assays. [ABSTRACT FROM AUTHOR]

Among the common causes of neonatal admission to NICU, respiratory distress is one of the important causes. The neonatal respiratory distress is end result of various pulmonary and non-pulmonary causes. Differentiation of pulmonary causes of respiratory distress is important for the neonatologist as treatment differs with different etiologies. Conventionally, chest X-ray and sometimes CT scan have been used to identify the etiology of respiratory distress but these modalities have several limitations which make their use in NICU doubtful. In recent decades, there has been use of lung ultrasound (LUS) to identify and differentiate the etiologies of respiratory distress. The current available evidence show that LUS has good sensitivity and specificity to identify all the common causes of neonatal distress like respiratory distress syndrome, transient tachypnea of newborn, pneumothorax, and pneumonia. This review will cover the various uses of LUS in neonatal care with current available evidence. [ABSTRACT FROM AUTHOR]

Background & Objectives: Neonatal septicemia is responsible for 1.5 to 2.0 million deaths/year in the under developed countries of the world. Pakistan is number three among these countries and accounts for 7% of global neonatal deaths. The objective of the study was to determine the role of simple hematological parameter, immature to total neutrophil ratio (l/T ratio) in diagnosing early onset neonatal bacterial infection. Methods: A descriptive cross-sectional study was conducted in Neonatal Intensive Care Unit of Liaquat College of Medicine & Dentistry (LCMD) Hospital from January 2016 to January 2017. A total 85 neonates were admitted with clinical suspicion of presumed early onset sepsis or who had potential risk factors for sepsis like prematurity, prolonged rupture of membranes was carried out. After taking informed consent from parents of admitted neonates, data was collected in a structured questionnaire. Laboratory workup included White blood cell count, CRP, absolute neutrophil count, immature neutrophil count while blood C/S was kept as gold standard. Empirical antibiotics started after sample collection for workup. Manual differential count and immature neutrophil count of the peripheral blood smear was performed by a senior technician masked to clinical information. l/T ratio was calculated from WBC, neutrophils and immature neutrophil count by a simple formula. Results: Out of 85 neonates, 13 had positive blood cultures (15.29%). The mean white blood count was 18761.18 ± 8570.75 and mean l/T ratio was 0.1622 ± 0.0419.About 50% of proven sepsis cases had WBC higher than 26000 as compared to 50% of cases for negative diagnoses that had WBC <15500 . The mean l/T in positive CRP 0.204 ± 0.04 was non-significantly higher as compared to negative CRP 0.151 ± 0.034 (p =0.084). Point biserial correlation revealed that l/T ratio was significant strong correlation (r b= 0.721, p < 0.001) and overall l/T ratio was a good indicator of a positive and negative blood culture result. The sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) of l/T ratio were 76.47%, 83.82%, 54.16% and 93.44% respectively. Similarly majority of neonates having high l/T ratio also depicts positive C-reactive protein (CRP) (NPV 91.23%). Therefore, both l/T and CRP showed a high negative predictive value (l/T = 93.44% and CRP = 91.23%) in this study. Conclusion: l/T ratio is a useful tool for early onset sepsis (EOS) with reasonable specificity but cannot be relied upon as sole indicator. Combination of normal immature to total neutrophil Ratio with negative CRP values in neonates with presumed sepsis is an indicator of non-infected neonate which comprised 78.8% of our study population. [ABSTRACT FROM AUTHOR]

This review article will cover common congenital conditions affecting the hand with specific reference to etiology, diagnosis, and treatment. The congenital hand differences that are covered herein are syndactyly, amniotic constriction band, hypoplastic thumb, radial polydactyly, vascular anomalies, and radial longitudinal deficiency. The reader is provided with a brief review of each of these conditions. [ABSTRACT FROM AUTHOR]

Hearing is one of the most important sense organs for man. Hearing loss is often associated with delayed speech and language development in young children. Early identification and intervention improves the chance a child gets to lesser delays in development and improving the overall quality of life. To find out the prevalence of hearing loss in neonates in the rural taluka of Maval, Pune, Maharashtra, India. Prospective Non Randomized Clinical Study. The study was carried out between April 2012 and April 2015. A total of 8192 babies were screened across various centers around the Maval area. The babies who had some high risk factors were 1683 in number and babies who had no high risk factors i.e. well babies were 6509. In our study, the overall prevalence of hearing loss in neonates in Maval taluka of Maharashtra was found to be 3.54 per 1000 live births, in normal born neonates (well babies) was 1.689 per 1000 births, in high risk babies was 10.69 per 1000 high risk births. The prevalence of low birth weight neonates, hyperbilirubinemia neonates and neonates with craniofacial abnormalities developing hearing impairment was found to be 5.9, 3.56 and 1.18 per 1000 high risk births respectively. India is the second most populated country in the world with nearly a fifth of the world’s population. There is a need for the universal neonatal screening for deafness for earlier detection of deafness and rehabilitation.Level of Evidence: Level IV. [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]

Purpose: The effects of therapeutic hypothermia (TH) on hemodynamics in newborns with hypoxic-ischemic encephalopathy (HIE) were evaluated.Materials and Methods: Thirty-two neonates (gestational age, 39.4 ± 1.3 weeks) who had TH for HIE and echocardiographic hemodynamic assessments during TH and post-TH period were studied. Gestational-age-matched 34 healthy neonates were enrolled for comparison.Results: During TH, patients had significantly decreased left ventricular cardiac output (LVCO), descending aorta blood flow (DABF), and DABF/LVCO ratio, and increased resistive index of DA compared to controls. Upper body blood flow (UBBF) remained unchanged but UBBF/LVCO ratio significantly increased during TH. Urine output decreased significantly during TH and increased after rewarming, and showed significant positive correlation with DABF/LVCO ratio. Sixteen patients (50%) showed hypoxic-ischemic (HI) lesions on brain magnetic resonance imaging (MRI) and had significantly increased UBBF/LVCO ratio during TH compared to patients without HI lesions. Patients with UBBF/LVCO ratio >55% had significantly higher risk of having HI lesions on brain MRI (odds ratio 13.0; 95% CI, 2.4-70.2).Conclusions: Decrease in cardiac output and descending aorta blood flow, and preferential cerebral redistribution of cardiac output along with an increase in systemic peripheral vascular resistance may affect systemic organ perfusion and cerebral metabolism. [ABSTRACT FROM AUTHOR]

Background: Sequence optimization in neonates might improve detection sensitivity of abnormalities for a variety of conditions. However this has been historically challenging because tissue properties such as the longitudinal relaxation time and proton density differ significantly between neonates and adults.Objective: To optimize the magnetization-prepared rapid gradient echo (MP-RAGE) sequence to enhance both signal-to-noise ratio (SNR) and contrast-to-noise ratio (CNR) efficiencies.Materials and methods: We optimized neonatal MP-RAGE sequence through (1) reducing receive bandwidth to decrease noise, (2) shortening acquisition train length (acquisition number per repetition time or total number of read-out radiofrequency rephrasing pulses) using slice partial Fourier acquisition and (3) simulating the solution of Bloch’s equation under optimal receive bandwidth and acquisition train length. Using the optimized sequence parameters, we scanned 12 healthy full-term infants within 2 weeks of birth and four preterm infants at 40 weeks’ corrected age.Results: Compared with a previously published neonatal protocol, we were able to reduce the total scan time by reduce the total scan time by 60% and increase the average SNR efficiency by 160% (P<0.001) and the average CNR efficiency by 26% (P=0.029).Conclusion: Our in vivo neonatal brain imaging experiments confirmed that both SNR and CNR efficiencies significantly increased with our proposed protocol. Our proposed optimization methodology could be readily extended to other populations (e.g., older children, adults), as well as different organ systems, field strengths and MR sequences. [ABSTRACT FROM AUTHOR]

The article presents a case study of a 9‑month‑old girl was referred from the Department of Pediatrics with asymptomatic, congenital skin folds affecting the distal parts of upper and lower extremities, progressively increasing with age; the child was born out of nonconsanguineous parentage, at term by normal vaginal delivery; and he birth weight was 2.7 kg and her growth and developmental milestones were delayed for age.

The article presents a case study of a 38-week term newborn born via vaginal delivery to a previously healthy 24-year-old mother. It discusses the treatment with ceftriaxone and vancomycin without resolution of her fever. It mentions another case of a newborn at 39 weeks gestational age delivered via urgent caesarian section secondary to non-reassuring fetal heart tones to a 21-year old primigravid mother.

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]

Sepsis is an important cause of mortality and morbidity in neonatal populations. There has been constant search of an ideal sepsis biomarker that have high sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV), so that both the diagnosis and exclusion of neonatal sepsis can be made at the earliest possible and appropriate antibiotics can be started to neonate. Ideal sepsis biomarker will help in guiding us when not to start antibiotics in case of suspect sepsis and total duration of antibiotics course in case of proven sepsis. There are numerous sepsis biomarkers that have been evaluated for early detection of neonatal sepsis but till date there is no single ideal biomarker that fulfills all essential criteria's for being an ideal biomarker. The most commonly used biomarkers are C-reactive protein (CRP) and procalcitonin (PCT), but both have shown varied sensitivity, specificity, PPV and NPV in different studies. We conducted literature search for various neonatal sepsis biomarkers and this review article will cover briefly all the markers with current available evidence. [ABSTRACT FROM AUTHOR]

In 2013, the National Health Service Commissioning board centralized the funding in England for up to three cycles of pre-implantation genetic diagnosis (PGD) for couples who have, or are carriers of, a specific genetic disorder. This study presents the historical data of PGD cycles and their clinical outcomes in UK as extrapolated from the national data registry. Retrospective analysis of outcome of cycles undergoing pre-implantation genetic diagnosis in the UK over the past 20 years was performed from the Human Fertilisation and Embryology Authority database (n = 2974). Binary logistic regression was used to determine trends over time and adjusted for maternal age. Briefly, the number of PGD cycles has risen 127-fold from 1991 to 2012 with 3.6-fold increase (360% rise) from 2004 to 2012. A total of one in four embryos following pre-implantation genetic diagnosis did not reach embryo transfer and 92% of these were due to a failure to survive. The live birth rate has risen over 20 years and there has been a steady decline in reported incidence of congenital abnormalities (p < 0.07). PGD has thus emerged as a safe and effective alternative to prenatal diagnosis but with ever evolving technological advances, a robust system of data collection that incorporates techniques used and reporting of mutation-specific clinical outcomes is suggested. [ABSTRACT FROM AUTHOR]

BACKGROUND: Perinatal asphyxia is an important cause of morbidity and mortality in the neonatal period, accounting for 20–30% of neonatal mortality. A substantial proportion (estimated at 26%) of the 1 million annual intrapartum stillbirths result from asphyxia. Probably higher than the mortality is the plethora of morbidity associated with asphyxia, especially long term neuro-developmental problems including cerebral palsy. The real burden of perinatal asphyxia is difficult to establish because of paucity of information from the rural communities where the majority of neonatal morbidity and deaths occur. Extended Apgar scores and HIE grade have been identified as predictive tools in prognosticating asphyxia, however HIE staging require a certain level of medical expertise which is not widely available. AIM: To determine the incidence of asphyxia, the mortality rate and factors associated with mortality in Irrua Specialist Hospital. METHOD: It was a descriptive, retrospective study of neonates admitted into the special care baby unit (SCBU) between October 2013 and September 2014 with diagnosis of perinatal asphyxia. Data was obtained from babies' and mother's case notes. The outcome was classified as survived or died. RESULTS: Perinatal asphyxia accounted for 45 out of 347 (13%) of admissions within the review period. The mean gestational age and birth weight of the subjects were 39.2±2.2 weeks and 3020±520 grams respectively. The mortality rate was 31.1% and the factors significantly associated with mortality include lack of antenatal care and HIE stage III. CONCLUSION: The burden of perinatal asphyxia in Irrua Specialist Hospital is comparable to figures from similar settings in the developing world. Lack of antenatal care and HIE stage III are associated with mortality. Continuous efforts should be made to improve the uptake of antenatal care and high risk pregnancies should be delivered in centres with facilities for neonatal care. [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]

Historically, there has been limited neuro-imaging data acquired on infants with mild neonatal encephalopathy (NE). This likely reflects the traditional assumption that these infants had a universally good prognosis. As new evidence has emerged challenging this assumption, there has been a renewed interest in the neuro-imaging findings of these infants. To date, magnetic resonance imaging (MRI) studies in infants with mild NE have demonstrated abnormalities in 20-40% of cases suggestive that the injury occurs during the peripartum period with a predominant watershed pattern of injury. The severity of the injury on MRI in infants with mild NE varies, but includes patterns of injury that have been associated with long-term neuro-developmental impairment. [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]

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]

More than 27,000 human genes have been sequenced and described. Only a few of these genes are relevant for common human diseases with regard to diagnostic or therapeutic purposes. This review describes the genetics of common traits and diseases with a particular focus on perspectives for drug discovery and drug therapy in neonates. [ABSTRACT FROM AUTHOR]

Background: In the developing countries, neonatal sepsis (NNS) contributes significantly to neonatal admissions and deaths. Its symptoms are usually nonspecific, and definitive laboratory diagnosis can be challenging in a resource-limited setting. Therefore, early empirical antibiotic therapy antibiotics are important in these localities, and this makes it important to document local organisms and their antibiotic sensitivity pattern. Unfortunately, no previous study in our setting has documented these. Methods: This study involved newborns (inborn and outborn) admitted with sepsis (cases) within the 1st month of life at the Enugu State University Teaching Hospital (ESUTH), Enugu, Southeast Nigeria. Controls were included for the analysis, and data were collected over a 4-year period from January 2013 to December 2016. Results: In all, 1920 newborns were admitted to the Special Care Baby Unit of ESUTH during the study period. Fifty-seven were managed for culture-proven sepsis, resulting in an in-hospital incidence rate of 29.7 per 1000 admitted newborns (95% confidence interval 21.9–37.4). A total 228 newborns were recruited (57 cases and 171 controls; ratio of 1:3). The most common presenting symptom and sign were fever (84.2%) and depressed primitive reflexes (50.9%), respectively. A case-fatality rate of 7.4% was observed. Newborn's place of birth (P = 0.02) and the final outcome (P = 0.004) were significantly associated with the development of sepsis, while gender (P = 0.12), birth weight (P = 0.33), gestational age (P = 0.53), and mode of delivery (P = 0.74) were not. Nearly 60% of the organisms implicated were coliforms, while one-quarter were Staphylococcus aureus. The most sensitive antibiotics were the fluoroquinolones, particularly ciprofloxacin, while amoxicillin, ampicillin, and clindamycin were generally not effective. Conclusion: NNS in our environment is commonly caused by coliforms and S. aureus and being outborn is a significant determinant. Antibiotic resistance follows recognized patterns, but the quinolones, despite their inconclusive safety profile in children, are most sensitive. [ABSTRACT FROM AUTHOR]

We evaluated the feasibility of a multi-feature mismatch negativity (MMN) paradigm in studying auditory processing of healthy newborns. The aim was to examine the automatic change-detection and processing of semantic and emotional information in speech in newborns. Brain responses of 202 healthy newborns were recorded with a multi-feature paradigm including a Finnish bi-syllabic pseudo-word/ta-ta/as a standard stimulus, six linguistically relevant deviant stimuli and three emotionally relevant stimuli (happy, sad, angry). Clear responses to emotional sounds were found already at the early latency window 100–200 ms, whereas responses to linguistically relevant minor changes and emotional stimuli at the later latency window 300–500 ms did not reach significance. Moreover, significant interaction between gender and emotional stimuli was found in the early latency window. Further studies on using multi-feature paradigms with linguistic and emotional stimuli in newborns are needed, especially those containing of follow-ups, enabling the assessment of the predictive value of early variations between subjects. [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]