Diagnostic Accuracy of Endotoxin and Endotoxin Binding Protein in Late-Onset Neonatal Sepsis.

OBJECTIVES: To evaluate the diagnostic utility of endotoxin and endotoxin binding protein (EBP) for the diagnosis of late-onset neonatal sepsis (LOS) and compare it with the diagnostic utility of C-reactive protein (CRP). METHODS: This diagnostic study of neonates, both term and preterm, with clinical suspicion of LOS was conducted in a tertiary care institute in India between January 2021 and March 2023. Blood samples were collected for evaluating endotoxin and EBP along with culture. Endotoxin and EBP were measured with enzyme linked immunosorbent assay, CRP was measured by nephelometry method, and the results were compared with blood culture done with BACTEC (gold standard). RESULTS: Out of 160 samples, 73 showed culture positivity. Endotoxin was positive in 81 samples and showed sensitivity of 84%, specificity of 78% and diagnostic accuracy of 81% (AUC 0.837, P value <0.001). EBP was positive in 82 samples and showed sensitivity of 80.8%, specificity of 73% and diagnostic accuracy of 76% (AUC 0.824, P value <0.001). CRP was positive in 105 samples and had sensitivity of 86%, specificity of 51% and diagnostic accuracy of 67% (AUC 0.827, P value <0.001). CONCLUSIONS: The present study showed endotoxin and EBP have higher specificity for diagnosing neonatal sepsis. As culture takes minimum 48 h, endotoxin and EBP can be utilized as biomarkers for diagnosis of sepsis.

COVID-19 pandemic and lockdown: impact on parents' stress level and infant care in a tertiary neonatal unit.

Neonatal intensive care unit (NICU) admission increases parents' stress levels and it might be even higher in the crisis of coronavirus disease 2019 (COVID-19) pandemic and lockdown. This study was done to identify the stress levels of parents of admitted neonates and the difficulties encountered in neonatal care and follow-up during the COVID-19 pandemic and lockdown. The Parental Stressor Scale (PSS:NICU) and Perceived Stress Scale (PeSS) were used to identify the stress levels of parents of admitted neonates. Online survey form with a structured questionnaire comprising PeSS and NICU:PSS was sent through messaging app (Google form) after informed consent. PSS score of <14 was considered low stress, 14-26 moderate and >26 as high. A total of 118 parental responses (mother /father in 26, both in 46) for 72 admitted neonates, were obtained. The mean (SD) PeSS score was 19.7 (5.8%) and 92 (78%) had moderate stress while 11 (9%) had high stress. In NICU:PSS, sights-sounds and parental role had more median scores: 2.25 (1-3.75) and 2.21 (1-3.57), respectively. Maternal and paternal NICU:PSS (p-0.67) and PeSS (p-0.056) scores were not statistically different. Keeping nil per oral, invasive ventilation, culture-positive sepsis, fathers' transport difficulty and longer duration of mothers' and neonates' hospital stay was associated with increased NICU: PSS scores. Twenty (29%) parents could not bring their child for follow-up and there was a delay in immunisation in 21 (30%). The pandemic and the lockdown might have disrupted antenatal and postnatal follow-ups further adding to the parental stress.

Quality improvement initiative approach to increase the duration of Kangaroo Mother Care in a neonatal intensive care unit of a tertiary care institute in South India during the COVID-19 pandemic.

INTRODUCTION: Kangaroo mother care (KMC) provided to stable babies in hospitals is associated with 40% relative risk reduction in death, 65% risk reduction in nosocomial infections. Despite clear existing evidence of advantages of KMC, its implementation remains limited.This study aimed to improve the median KMC practice hours in eligible preterm and low birth weight (LBW) neonates by 50% from the baseline practice. METHODS: This was a Quality Improvement study conducted at Neonatal unit of a tertiary care institute in South India. All stable preterm and LBW neonates were included after obtaining written informed consent from mother. Those who needed interruption in KMC due to medical reason were excluded. A team comprising of 2 principal investigators (UG students), 2 consultants and 2 in-charge nurses was formed. Baseline data were collected between January and February 2021 to find out the median duration of KMC practice and to identify limiting factors (barriers) and the facilitating ones through in-depth interviews and team meetings. The study was conducted over a 10 month period. Steps were taken to tackle these in two PDSA cycles, each lasting for 3 weeks (1st PDSA: Education of Mothers and Nurses; 2nd PDSA: KMC technique, orders by residents). The PDSA was followed by monitoring for 10 weeks for sustenance. RESULTS: The baseline data showed that the median duration (in hours) of KMC practice was 2.6 which increased to 5.0 and 5.5 h by the end of first and second PDSA cycle, respectively and showed a lasting change, peaking at a median value of 6.1 h during the sustenance phase over the next 10 weeks. CONCLUSION: Through simple measures and closing the communication gap between health care workers and mothers, we were able to increase the duration of KMC, which remained high during the 10 week follow up period.

Bovine milk-based and human milk-based fortification for postnatal weight gain in very preterm neonates-a cohort study.

BACKGROUND AND OBJECTIVES: Postnatal growth failure happens in about half of the very low birth weight infants and this can have long-term consequences. Human milk-based multi-nutrient fortifiers (HMBF) are thought to be better tolerated than bovine milk-based multi-nutrient fortifiers (BMBF), thus facilitating early progression to full feeds and improved growth in preterm neonates. This study was done to find the advantage of HMBF over BMBF on postnatal growth and other clinical outcomes. METHODS: This is a retrospective cohort study where babies <1500 g birth weight or gestational age <32 weeks were included to compare the velocity of weight gain (g/kg/day), duration of hospital stay and clinical outcomes between fortification using HMBF and BMBF till 34 weeks postmenstrual age. RESULTS: Eligible neonates included in the study were 322, out of whom 123 (37%) received HMBF and 209 (63%) received BMBF. During the stay, 18 babies were changed from BMBF to HMBF and vice versa in 24 babies due to logistic reasons and parents' preferences. The mean birth weight of the babies was 1124 ± 237 g. Weight gain was higher in the exclusive HMBF group [mean difference 0.77 (0.14, 1.39) g/kg/day; p-value = 0.018]. Feed intolerance [odds ratio (OR) 0.45 (0.22, 0.95), p-value 0.037] was also significantly less in this group. However, other morbidities did not differ significantly between the groups. CONCLUSION: Higher weight gain and lower feed intolerance in the HMBF group underscores the possible advantage of using HMBF over BMBF. Larger prospective studies might bring out its effect on the duration of hospital stay and other morbidities.

Hypertonia, Microcephaly and Hyperkalaemia in a Neonate: Coexistence of Neurodevelopmental Disorder and Adrenal Insufficiency.

In neonates with more than one clinical abnormalities, we always look for a unifying diagnosis that explains the entire clinical presentation. In rare instances, two conditions can co-exist. Here, we report a neonate born out of consanguineous marriage presenting at 48 hours of life with microcephaly, encephalopathy, hypertonia. He had excessive weight loss, persistent hyperkalaemia, shock and elevated level of 17- hydroxyprogesterone. Steroids were started for adrenal insufficiency. Magnetic resonance imaging (MRI) of the brain revealed T2 hyperintensity of cerebral white matter, hypomyelination and parenchymal volume loss causing microcephaly. Clinical exome sequencing (CES) revealed a pathogenic homozygous missense variation of CYP21A2 gene responsible for congenital adrenal hyperplasia and also the presence of a homozygous missense variant of unknown significance (VUS) of VARS gene implicated in neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy (NDMSCA). Baby was neurologically abnormal at discharge. In the setting of consanguinity, there is a possibility of two genetic conditions. Clinical exome sequencing test is useful in demystifying the diagnosis in complex clinical presentation.

Early calcium and phosphorus supplementation in VLBW infants to reduce metabolic bone disease of prematurity: a quality improvement initiative.

OBJECTIVE: To reduce the incidence of metabolic bone disease (MBD) among very low birthweight (VLBW) infants admitted to neonatal intensive care unit from baseline of 35% by 50% over 2 years by implementing a quality improvement (QI) initiative. METHODS: A multidisciplinary QI team used evidence-based interventions and the healthcare improvement model to reduce MBD rate in VLBW infants. The specific interventions included routine enteral supplementation of calcium and phosphorus using Human Milk Fortifier (HMF) to expressed breast milk by day 14 of life (Plan/Do/Study/Act (PDSA) cycle 1), parenteral and early enteral supplementation of calcium and phosphorus (PDSA cycles 2 and 3). We included VLBW infants admitted within the study period at birth and excluded babies with congenital malformations, skeletal disorders and those who died before 2 weeks of age. Compliance with adding HMF by day 14, compliance with adding calcium and phosphorus in total parenteral nutrition (TPN) from day 1 of life and compliance with starting HMF when the baby reached 100 mL/kg/day of feeds were used as process indicators. The incidence of MBD was used as an outcome indicator during the study. The incidence of MBD was tracked using the Statistical Process Control methodology. RESULTS: The baseline MBD rate in 2015 was 35%. After the first PDSA cycle, 20% developed MBD (p=0.02). The same was sustained for a period of 1 year with the rate of 22%. After the second and third PDSA cycles, there was a drop in the MBD rate to 17%, and sustained for 3 months with 21%. CONCLUSION: Implementation of QI initiatives decreased the MBD rate from 35% to <20%. Early parenteral calcium and phosphorus supplementation in TPN and optimising enteral supplementation with multicomponent fortifiers appear to have significant reduction in the incidence of MBD.

Clinical Profile, Outcomes and Predictors of Mortality in Neonates Operated for Gastrointestinal Anomalies in a Tertiary Neonatal Care Unit- An Observational Study.

Background: Gastrointestinal (GI) malformations have varied short-term and long-term outcomes reported across various neonatal units in India. Methods: This descriptive study was done to study the clinical profile, outcomes and predictors of mortality in neonates operated for congenital GI malformations in a tertiary neonatal care unit in South India between years 2011 and 2020. Details were collected by retrospective review of the case sheets. Results: Total of 68 neonates were included with esophageal atresia (EA) in 10, infantile hypertrophic pyloric stenosis (IHPS) in 9, duodenal atresia (DA) in 10, ileal atresia in 8, jejunal atresia in 5, anorectal malformations (ARM) in 11, meconium ileus/peritonitis in 9, malrotation in 2, and Hirschsprung's disease (HD) in 4. Antenatal diagnosis was highest in DA (80%). Associated anomalies were maximum in EA (50%), the most common being vertebral, anal atresia, cardiac defects, tracheoesophageal fistula, renal and radial abnormalities, and limb abnormalities association (VACTERL). Overall mortality was 15%. IHPS, DA, Malrotation, HD and ARM had 100 % survival while ileal atresia had the least survival (38%). Gestational age <32 weeks (odds ratio [OR] 12.77 [1.96, 82.89]) and outborn babies (OR 5.55 [1.01, 30.33]) were significant predictors of mortality in babies operated for small intestinal anomalies. None of the surviving infants were moderately or severely underweight at follow-up. Conclusion: Overall survival of surgically correctable GI anomalies is good. Among the predictors for mortality, modifiable factors such as in-utero referral of antenatally diagnosed congenital anomalies need attention. One-fifth had associated anomalies highlighting the need to actively look for the same. Although these neonates are vulnerable for growth failure, they had optimal growth on follow-up possibly due to standardized total parenteral nutritional policy during neonatal intensive care unit stay.

Dextrose Gel for Neonates at Risk With Asymptomatic Hypoglycemia: A Randomized Clinical Trial.

BACKGROUND AND OBJECTIVES: Hypoglycemia occurs in 5% to 15% of neonates in the first few days. A significant proportion requires admission for intravenous fluids. Dextrose gel may reduce admissions and mother-infant separation. We aimed to study the utility of dextrose gel in reducing the need for intravenous fluids. METHODS: This stratified randomized control trial included at-risk infants with asymptomatic hypoglycemia. Study populations were stratified into 3 categories: small for gestational age (SGA) and intrauterine growth-restriction (IUGR), infants of diabetic mothers (IDM) and large for gestational age (LGA), and late preterm (LPT) neonates. Intervention group received dextrose gel followed by breastfeeding, and the control group (CG) received only breastfeeding. RESULTS: Among 629 at-risk infants, 291 (46%) developed asymptomatic hypoglycemia; 147 (50.4%) in the dextrose gel group (DGG) and 144 (49.6%) in CG. There were 97, 98, and 96 infants in SGA/IUGR, IDM/LGA, and LPT categories, respectively. Treatment failure in the DGG was 17 (11.5%) compared to 58 (40.2%) in CG, with a risk ratio of 0.28 (95% confidence interval [CI]: 0.17-0.46; P < .001). Treatment failure was significantly less in DGG in all 3 categories: SGA/IUGR, IDM/LGA, and LPT with a risk ratio of 0.29 (95% CI:0.13-0.67), 0.31 (95% CI:0.14-0.66) and 0.24 (95% CI:0.09-0.66), respectively. CONCLUSIONS: Dextrose gel reduces the need for intravenous fluids in at-risk neonates with asymptomatic hypoglycemia in the first 48 hours of life.

Diagnosis of a floppy neonate with misleading clues: unraveled as congenital hypomyelinating neuropathy.

Contactin-associated protein 1 (CNTNAP1)-related congenital hypomyelinating neuropathy (CHN) is a rare type of peripheral neuropathy and has a clinically heterogeneous presentation. We report a neonate with an atypical presentation in the form of global hypotonia, facial diparesis and partial response to neostigmine challenge test. There was no clinical improvement on initiation of anticholinesterase drug for suspected congenital myasthenia and hence stopped. Detection of a pathogenic variant in CNTNAP1 gene by clinical exome sequencing and subsequent reverse phenotyping confirmed CHN as the aetiology for this floppy neonate, which is known to have high mortality. The baby was given supportive care and she succumbed secondary to complications of prolonged ventilation.

Clinical Profile, Outcomes, and Complications in Neonates Undergoing Peritoneal Dialysis in a Tertiary Neonatal Care Unit - An Observational Study.

Peritoneal dialysis (PD) is the most common form of renal replacement therapy in neonates and there is a lot of heterogeneity in patient selection and outcomes across the various units. This study aimed to assess the indications, complications, and outcomes in terms of survival of PD. This is a retrospective study of 23 neonates who underwent acute PD at a tertiary care neonatal unit between August 2016 and July 2021. A cross-sectional poll was also conducted among the doctors who have been in the unit for the past 10 years regarding their experience in PD. The baseline, clinical, biochemical parameters, outcomes, and complications were analyzed. All statistical analyses were performed using the IBM SPSS Statistics version 23.0 software. The mean (±standard deviation) gestational age and birth weights of neonates were 32.6 ± 4 weeks and 1743 ± 922 g, respectively. Six (26%) babies had extremely low birth weight, five (22%) very low birth weight (VLBW), and seven (30%) low birth weight. The indications were acute kidney injury [17/23 (74%)], fluid overload [3/23 (17%)], suspected inborn errors of metabolism [2/23 (9%)] and hypernatremia [1/23 (4%)]. A pigtail catheter (74%) was used in most of them. Catheter block was noticed in four babies and peritonitis in two neonates. We did not encounter any complications during the procedure, and PD appears to be practicable across all gestational ages and birth weights.

A gastric outlet thickened mucosal fold associated with cytomegalovirus infection in an extremely preterm infant managed by surgical resection.

Non-bilious vomiting in preterm neonates discharged from neonatal intensive care units is a common complaint and is often associated with benign conditions such as gastro-oesophageal reflux. A neonate of 27 weeks gestation who presented later with vomiting owing to gastric outlet obstruction is described. He was discharged at 11 weeks of age and required re-admission 1 week later. He had persistent non-bilious vomiting from 7 weeks of age, failure to thrive and metabolic alkalosis. Clinical examination demonstrated visible gastric peristalsis, and hypertrophic pyloric stenosis was suspected. Ultrasound of the gastric pylorus and upper gastro-intestinal contrast studies were negative. Exploratory laparotomy after failure of conservative management revealed a thickened mucosal fold in the gastric pylorus, which was excised. Histopathology demonstrated inclusion bodies which are pathognomonic of cytomegalovirus infection. He was treated with valganciclovir for 6 weeks and was asymptomatic and thriving well at follow-up. Gastric outlet obstruction can be one of the manifestations of CMV infection of the gastro-intestinal tract. Diagnosis can be confirmed only by histopathology.Abbreviations: BPD: bronchopulmonary dysplasia; CMV: cytomegalovirus; H&E: haematoxylin and eosin; IHC: immunohistochemistry; IHPS: infantile hypertrophic pyloric stenosis; NEC: necrotising enterocolitis; PCR: polymerase-chain reaction; VGP: visible gastric peristalsis.

Hypothyroxinaemia in refractory shock: a clue to diagnose hypopituitarism.

The rarity of congenital hypopituitarism (CHP) makes it essential for clinicians to be aware of its varying clinical manifestations. We report a neonate with one such unique presentation. A preterm girl baby was managed for respiratory distress. Diffuse cutis marmorata was present since birth; septic screens were positive with placental histopathology showing chorioamnionitis. Newborn screening showed low free thyroxine and normal TSH. Transient hypothyroxinaemia of prematurity was considered. Her respiratory status worsened on day 9, followed by refractory shock. She was treated for sepsis. Further evaluation for absent heart rate variability in response to vasopressor resistant shock led to the detection of hypocortisolism. Low cortisol along with hypothyroxinaemia made hypopituitarism the working diagnosis. Owing to the variable clinical spectrum of CHP, diagnosis is challenging. We highlight a few clinical and laboratory features, which would help in earlier diagnosis of CHP.

Inborn Errors of Metabolism-Approach to Diagnosis and Management in Neonates.

Inborn errors of metabolism (IEM), otherwise known as inherited metabolic disorders (IMD), are individually rare, but collectively common. IEM pose a challenge to diagnosis, as neonates present with nonspecific signs. A high index of suspicion is essential. Knowledge on clinical presentation may be life saving, especially for conditions that are treatable. It is important for the first-line physicians not to miss treatable disorders. Simplified classification and algorithmic approach help in the clinical setting. This article describes the classification of IEM into three groups, namely group 1 - intoxication disorders, group 2 - energy defects, and group 3 - storage disorders. Clinical presentations of IEM in the neonatal period, a quick guide to the diagnosis with the help of baseline investigations (glucose, arterial blood gas, lactate, ammonia, and ketone abbreviated as GALAK), a tabulated guide to the diagnosis with the help of tandem mass spectrometry (TMS), and gas chromatography and mass spectrometry (GCMS) are summarized in this article. Four principles of therapy that include substrate reduction, provision of deficient metabolites, disposal of toxic metabolites, and increase in enzyme activity are elaborated with particular stress to the diet management. In addition, a list of medications used in the treatment of different disorders classified according to Society for the Study of IEM (SSIEM) is presented.

Utility of clinical exome sequencing in the evaluation of neonates with suspected genetic condition - An observational study from tertiary neonatal care unit in South India.

OBJECTIVES: To study the utility of clinical exome sequencing (CES) using next generation sequencing (NGS) in evaluating neonates with suspected genetic conditions. METHODS: This is an observational study conducted in a tertiary care neonatal unit. We included neonates with suspected genetic conditions, for whom CES were done either by direct sampling or from stored DNA. Data was collected from the Sri Ramachandra centre of excellence in perinatal health (SCOPE) case records of 2016-2019. Yield of CES, percentage of pathogenic, non-pathogenic and variant of uncertain significance (VUS) and associated disorders were studied. RESULTS: CES was done in 36 neonates. Variants were detected in 78% (28/36). However, significant variants with clinical correlation were present in 20 (56%) babies. Test was carried out from the stored sample in 10 (28%) babies. Mean turn-around time was 39 ± 7 days. Specialist was involved in 1 and treatment changes were done in 5 neonates. Five out of 8 VUS were clinically correlating. Inborn errors of metabolism were the commonest (60%). Two VUS were ascertained as likely pathogenic after parental segregation analysis. CONCLUSION: CES has a definite role in evaluation of suspected genetic conditions for diagnosis and prognostication. It also helps scientific society to build in additional evidence so that the "VUS" could be asserted as "likely pathogenic" . Our experience reiterates the importance of storing and archiving DNA of the affected child.

Candida auris, an emerging pathogen - Challenge in the survival of microprimies.

Clinical profile of extreme preterm neonates and more so, of microprimies with birth weight < 800 g is not studied till now. Our article elaborates the profile of 5 microprimies with C.auris sepsis and review of literature. The mean gestational age and birth weight were 26 weeks ± 5 days and 709 ±â€¯64 g respectively. Mortality was 80%. The organism was susceptible to micafungin, voriconazole but was resistant to fluconazole and amphotericin. Among the 5 babies, one had organ involvement in the form of cardiac vegetation. Early identification and optimal choice of drug are crucial for better survival in C.auris sepsis.

Disposable low-cost cardboard incubator for thermoregulation of stable preterm infant - a randomized controlled non-inferiority trial.

BACKGROUND: Incubators and radiant warmers are essential equipment in neonatal care, but the typical 1,500 to 35,000 USD cost per device makes it unaffordable for many units in low and middle-income countries. We aimed to determine whether stable preterm infants could maintain thermoregulation for 48 h in a low-cost incubator (LCI). METHODS: The LCI was constructed using a servo-heater costing 200 USD and cardboard infant-chamber. We conducted this open-labeled non-inferiority randomized controlled trial in a tertiary level teaching hospital in India from May 2017 to March 2018. Preterm infants on full feeds and receiving incubator or radiant warmer care were enrolled at 32 to 36 weeks post-menstrual age. We enrolled 96 infants in two strata (Strata-1< 33 weeks, Strata-2 ≥ 33 weeks at birth). Infants were randomized to LCI or standard single-wall incubator (SSI) after negative incubator cultures and monitored for 48 h in air-mode along with kangaroo mother care. The incubator temperature was adjusted manually to maintain skin and axillary temperatures between 36.5 °C and 37.5 °C. During post-infant period after 48 h, SSI and LCI worked for 5 days and incubator temperatures were measured. The primary outcome was maintenance of skin and axillary temperatures with a non-inferiority margin of 0.2 °C. Failed thermoregulation was defined as abnormal axillary temperature (< 36.5 °C or >37.5 °C) for > 30 continuous-minutes. Secondary outcomes were incidence of hypothermia and required incubator temperature. Trial registration details: Clinical Trial Registry - India (CTRI/2015/10/006316). FINDINGS: Prior to enrollment 79(82%) infants were in radiant warmer and 17(18%) infants were in incubator care. Median weight at enrollment in Strata-1 and Strata-2 for SSI vs. LCI was 1355(IQR 1250-1468) vs. 1415(IQR 1280-1582) and 1993(IQR 1595-2160) vs. 1995(IQR 1632-2237) grams. Mean skin temperature in Strata-1 and Strata-2 for SSI vs. LCI was 36.8 °C ± 0.2 vs. 36.7 °C ± 0.18 and 36.8 °C ± 0.22 vs. 36.7 °C ± 0.19. Mean axillary temperature in Strata-1 and Strata-2 for SSI vs. LCI was 36.9 °C ± 0.19 vs. 36.8 °C ± 0.16 and 36.8 °C ± 0.2 vs. 36.8 °C ± 0.19. Mixed-effect model done for repeated measures of skin and axillary temperatures showed the estimates were within the non-inferiority limit; -0.07 °C (95% CI -0.11 to -0.04) and -0.06 °C (95% CI -0.095 to -0.02), respectively. Failed thermoregulation did not occur in any infants. Mild hypothermia occurred in 11 of 48(23%) of SSI and 16 of 48(33%) of LCI, OR 1.28 (95%CI 0.85 to 1.91). Incubator temperature in LCI was higher by 0.7 °C (95%CI 0.52 to 0.91). In the post-infant period SSI and LCI had excellent reliability to maintain set-temperature with intra-class correlation coefficient of 0.93 (95%CI 0.92 to 0.94) and 0.96 (95%CI 0.96 to 0.97), respectively. INTERPRETATION: Maintenance of skin and axillary temperature of stable preterm infants in LCI along with kangaroo mother care was non-inferior to SSI, but at a higher incubator temperature by 0.7 °C. No adverse events occurred and LCI had excellent reliability to maintained set-temperature. FUNDING: Food and Drug Administration (Award number P50FD004895).

Outcome of Inherited Metabolic Disorders Presenting in the Neonatal Period.

OBJECTIVE: To assess the outcome of infants who were diagnosed to have Inborn errors of metabolism (IEM) during neonatal period from a single center in South India. METHODS: This retrospective cohort study included consecutive neonates diagnosed to have IEM by biochemical testing or those detected using newborn screening (NBS) between November 2014 and July 2018. Disorders were categorized into intoxication and non-intoxication groups. Their presentation and outcome were described. Development at 12 mo was assessed objectively using DASII (Developmental assessment scale for Indian infants). Developmental quotient <70 was considered as delay. Mortality was analyzed using Kaplan Meier survival analysis. RESULTS: Among the total of 33 (14 intoxication and 19 non-intoxication groups), 7 died in neonatal period, 3 were lost to follow-up, 9 expired during varying period leaving 14 under regular follow-up. NBS detected 3 of them, others presented symptomatically unwell during neonatal period. Median survival was 18 mo (95% CI 3.7 to 32.2). Kaplan Meier survival analysis revealed a significant difference in mortality in intoxication compared to non-intoxication group. Among 14 survivors, 7 (50%) had developmental delay; 5 (35%) had seizures; 6 (43%) had growth failure. Infants with encephalopathy as initial presentation had poorer prognosis. NBS detection rate was 1 in 1060 live births (3 positives out of 3180 NBS samples). Those detected by NBS remained well. CONCLUSIONS: Morbidity and mortality remain high in those diagnosed as IEM during neonatal period. Despite the small sample size, this study calls attention to implement NBS wherever feasible.