Gestational alloimmune liver disease with alpha thalassaemia in a neonate.

A term baby presented with cholestatic jaundice since birth. She was diagnosed as gestational alloimmune liver disease-neonatal haemochromatosis (GALD-NH) on evaluation. The baby received intravenous immunoglobulin (IVIG) and recovered gradually from the illness. She was also diagnosed with alpha thalassaemia during the course of evaluation, confirmed by genetic testing. NH is a very rare disorder that results in fetal loss or neonatal death due to liver failure. NH is now known to be a phenotypic expression of GALD. Worldwide, NH is seen in less than one in a million pregnancies. The mortality rate of GALD has traditionally been around 80% with almost all babies needing liver transplantation, with advent of maternal and neonatal IVIG treatment, this has reduced significantly. There is no reported case of GALD-NH treated successfully with IVIG from India. Here, we report an interesting case of GALD-NH with alpha thalassaemia.

Hemodynamic parameters after Delayed Cord Clamping (DCC) in term neonates: a prospective observational study.

BACKGROUND: Delayed cord clamping (DCC) is practiced worldwide, as standard care in both term and preterm babies. Our aim was to determine the hemodynamic effects of DCC on transitional circulation. MATERIAL AND METHODS: This prospective observational study was carried out in a tertiary care hospital, at Pune, India, from May 2018 to October 2019.Term neonates born during the study period were included. The primary outcome variables of the study were right ventricular output (RVO), left ventricular output (LVO), superior vena cava (SVC) flow (ml/kg/min) and heart rate(HR) at 12 ± 6 and 48 ± 6 h of life measured by point of care functional echocardiography. Inter-observer and intra-observer variability was calculated for these parameters. RESULTS: Out of a total of 2744 deliveries during the study period, 620 babies were included. Mean gestational age of the enrolled babies was 38.96 ± 1.08 weeks and mean birth weight was 2.9 ± 0.39 kg. Mean heart rate of babies recorded at 12 ± 6 h of life was 127 beats per minute (bpm) whereas it was 128 bpm at 48 ± 6 h of life. RVO {mean (SD)} was 209.55(44.89) and 205.85(46.35) ml/kg/min, LVO {mean (SD)} was 133.68(31.15) and 134.78(29.84) ml/kg/min whereas SVC flow {mean (SD)} was 106.85(26.21) and 109.29(25.11) ml/kg/min at 12 ± 6 and 48 ± 6 h of life respectively. There was good intra-observer agreement in all the variables. SGA babies had a significantly higher heart rate at 12 ± 6 h of life as compared to AGA babies, although this difference in heart rate could not be appreciated at 48 ± 6 h of life. However SGA babies had a higher LVO, RVO and SVC flow than AGA babies at both the time points of observation. CONCLUSION: After DCC there is less fluctuation in the hemodynamic parameters (heart rate, cardiac output) at the two time points of observation.. As compared to AGA babies, SGA babies had a significantly higher baseline heart rate, LVO, RVO and SVC flow. LVO of SGA babies after delayed cord clamping is found to be significantly lower than LVO seen in other studies, favoring the cardio-stabilizing effect of DCC. BRIEF RATIONALE: This is the first study with a large sample size evaluating the hemodynamic effects of DCC in term neonates by functional echocardiography. The normative data of heart rate and cardiac output of term, stable babies with small for gestational age(SGA) as a special subgroup undergoing DCC requires further evaluation.

Neonatal Schwartz-Jampel syndrome type II: a rare case of peripheral origin of neonatal hypertonia.

Neonatal Schwartz-Jampel syndrome type II is a rare and severe form of genetic disorder. Different from the classical appearance in infancy, neonatal presentation involves respiratory and feeding difficulties, along with characteristic pursed appearance of the mouth, myotonia, skeletal dysplasia and severe fatal hyperthermia. The clinical spectrum of this syndrome is so wide that it easily baffles with more common differentials. In this case report, a neonate born to third-degree consanguineous marriage with previous two abortions presented with respiratory difficulty, severe hyperthermia and feeding difficulty, which were daunting challenges to manage due to being refractory to standard line of management. Severe myotonia and gross dysmorphism were challenging dots to connect. Targeted exome sequencing was a ray of hope, which revealed homozygous mutation in the leukaemia inhibitory factor receptor gene on chromosome 5p13, confirming the genetic diagnosis for a fairly common spectrum of symptoms. The neonate later developed pneumoperitoneum and succumbed to underlying severe neonatal illness.

Pulse oximetry screening for critical congenital heart disease: a comparative study of cohorts over 11 years.

Background: Pulse oximetry (POS) has been proposed as a screening tool for CCHD in newborn. The aim was to identify the effect of POS on the rate of diagnosis after discharge and survival to one year in cases with CCHD.Material and Methods: All cases of CCHD from three tertiary level hospitals in the Northern region of UK between 1st January 2001 and 31st December 2011 were identified from the Northern Congenital Abnormality Survey (NorCAS). A retrospective cohort study comparing screened and unscreened population for CCHD was undertaken. The main outcome was post discharge diagnosis rate and mortality at one year between the cohorts.Results: Total number of births during the 11 years was 138,176. A total of 147 cases had CCHD, 59 diagnosed postnatally. Five and eight cases were diagnosed after discharge in the screened and the unscreened cohort respectively. The rate of post-discharge diagnosis in the screened population was 7/100,000 and 13/100,000 in the unscreened population with a relative risk of 0.52 (CI 0.2 to 1.42). Mortality at one year in postnatally diagnosed cases was five and one in the screened and unscreened cohorts respectively.Conclusion: With good antenatal detection rates, POS did not have a statistically significant impact in identifying cases of CCHD, when added to the present screening process of antenatal ultrasound and postnatal examination. The same conclusion cannot be made for regions with lower antenatal detection rates; perhaps it may be more appropriate to consider pulse oximetry as a screening tool for hypoxemia of any cause.Brief rationaleThis is the first study evaluating the contemporaneous post-discharge diagnosis rate between screened and unscreened populations. The rate of post-discharge diagnosis was 7/100,000 in the screened and 13/100,000 in the unscreened populations. However, this did not achieve statistical significance and in a setting with high antenatal diagnosis a very large study would be required to demonstrate efficacy of POS.

Outcomes of infants with a birthweight less than or equal to 500 g in Northern England: 15 years experience.

AIM: We aimed to evaluate mortality and short-term neonatal morbidity of babies born ≤500 g cared for in the Northern Neonatal Network over a 15-year period. METHOD: Using regional databases, we identified all live-born babies ≥22 weeks gestation and ≤500 g, in North East England and North Cumbria from 1998 to 2012. We quantified major neonatal morbidities and survival to one year. RESULTS: We identified 104 live-born babies ≥22 weeks gestation and ≤500 g (birth prevalence 0.22/1000), of which 49 were admitted for intensive care. Overall one-year survival was 11%, but survival for those receiving intensive care was 22%. There was significant short-term neonatal morbidity in survivors, in particular retinopathy of prematurity and chronic lung disease. CONCLUSION: Survival of babies born weighing ≤500 g in this cohort remains poor despite advances in neonatal care, with considerable short-term neonatal morbidity in survivors. This could be due to a combination of attitudes and a rather conservative approach towards resuscitation and intensive care, and the intrinsic nature of these tiny babies.

Cornelia de Lange syndrome due to mosaic NIPBL mutation: antenatal presentation with sacrococcygeal teratoma.

A male infant at 36 weeks gestation was born by section. At 20 weeks of gestation, congenital diaphragmatic hernia and sacrococcygeal teratoma had been seen on ultrasound. At birth, the infant had features suggestive of Cornelia de Lange syndrome (CdLS). He remained hypoxic despite aggressive ventilatory manoeuvres and was palliated. At postmortem, the lungs were hypoplastic. In CdLS, mutations in NIPBL are found in around 50% of cases. Mutation analysis, including multiplex ligation dependent probe amplification of the NIPBL gene from the DNA extracted from peripheral blood lymphocytes was negative, but microarray comparative genomic hybridisation on DNA from skin fibroblast showed a 0.13Mb deletion on chromosome 5p13. The deleted region includes exons 42-47 of the NIPBL gene. It is important to perform NIBPL mutation analysis on DNA from more than one tissue when testing for CdLS.

Cardiac blood flow measurements in stable full term small for gestational age neonates.

BACKGROUND: Cardiac blood flow measurements are useful in the haemodynamic management of neonates. Cardiac blood flows can be estimated with functional echocardiography as follows; flow in Superior Vena Cava (SVC), Right Ventricular Outflow (RVO) and Left Ventricular Outflow (LVO). Studies in preterm infants have shown that abnormal superior vena cava flow is associated with poor neurodevelopmental outcomes. To date, normative data on LVO, RVO and SVC flows has been established for term appropriate for gestational age neonates and preterm neonates, but no data is available on RVO, LVO and SVC flows for term small for gestational age neonates. OBJECTIVE: To determine Right Ventricular Output (RVO), Left Ventricular Output (LVO) and Superior Vena Cava (SVC) flow after the transitional period in stable full term Small for Gestational Age (SGA) neonates. DESIGN: Observational study. SETTING: A tertiary care, perinatal centre in western Maharashtra, India. PARTICIPANTS: Full term (37 to 41 weeks) small for gestational age (weight below 10th percentile for gestational age) infants who were born during the study period. METHODS: RVO, LVO and SVC flows were measured by functional echocardiography on day 7 of life in stable full term SGA neonates from January 2011 to August 2011. Infants who required respiratory or cardiovascular support and intensive care unit admissions for any indication and those with a clinical suspicion of an infection within 48 hours after data collection were excluded from the study. STATISTICAL ANALYSES: Unpaired t-test was used to compare SVC flow between symmetric and asymmetric SGA neonates. MAIN OUTCOME MEASURE: Measurements of RVO, LVO and SVC in term SGA neonates on day 7 of life. RESULTS: We performed measurements in 52 term SGA neonates with a median (range) birth weight of 2.190 (1.600-2.410) kg. Fifty two measurements were analyzed on day 7. The mean (SD) RVO, LVO and SVC flows were 255.59 (57.42) , 214.61 (52.04) and 126.28 (31.23) mL/kg/min. CONCLUSION: This study provides RVO, LVO and SVC flow values in a cohort of stable term SGA neonates after the transitional period.