Prenatal diagnosis of familial 22q11.2 deletion syndrome in a pregnancy with concomitant cardiac and urinary tract abnormalities in the fetus and the mother.

OBJECTIVE: We present prenatal diagnosis of familial 22q11.2 deletion syndrome in a pregnancy with concomitant cardiac and urinary tract abnormalities in the fetus and the mother. CASE REPORT: A 28-year-old woman primigravid underwent amniocentesis at 23 weeks of gestation because of fetal ultrasound findings of aortic stenosis, interrupted aortic arch (IAA), left multicystic kidney, right hydronephrosis and ureterocele. Amniocentesis revealed a karyotype of 46,XX. Simultaneous array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes revealed the result of arr 22q11.21 (18,894,835-21,505,417) × 1.0 [GRCh37 (hg19)] with a 2.611-Mb 22q11.21 deletion encompassing 41 Online Mendelian Inheritance in Man (OMIM) genes including UFD1L, TBX1, GNB1L, COMT and MED15. aCGH analysis on the DNAs extracted from parental bloods confirmed that the mother carried the same 22q11.21 microdeletion. Level II ultrasound additionally found ventricular septal defect (VSD) and persistent left superior vena cava (PLSVC). Examination of the woman showed short stature, malar hypoplasia, hypertelorism, bulbous nasal tip, prominent nasal root, hypoplasia of nasal wings, right renal agenesis, left ureterovesical reflux and VSD with repair, but normal intelligence and normal neuropsychiatric development. The woman decided to continue the pregnancy, and a 2903-g female baby was delivered at 38 weeks of gestation with left multicystic kidney, right hydronephrosis, dysgenesis of corpus callosum, IAA, VSD, PLSVC, patent ductus arteriosus, patent foramen ovale, atrial septal defect, dilated main pulmonary artery and tricuspid regurgitation. The neonate died at the age of one month. CONCLUSION: Prenatal diagnosis of concomitant congenital heart defects and urinary tract abnormalities in the fetus and the parent should raise a suspicion of familial 22q11.2 deletion syndrome.

Injuries and deaths caused by non-human primate attacks: Paediatric vulnerability.

A six-month-old girl was taken from her mother's lap by a macaque monkey (Macaca) that had entered the room through an open door. The monkey escaped with the infant but subsequently dropped her from a rooftop terrace. Death occurred soon after impact with the ground, and was found at autopsy to be due to blunt cranio-cerebral trauma with skull fractures and intracranial haemorrhage. Monkeys and apes may cause a variety of serious and potentially life-threatening injuries and may manifest quite unpredictable and aggressive behaviour around humans. The very young are particularly vulnerable to primate attacks, and 'baby theft' by apes and monkeys is an event that has now been reported, albeit rarely, in a number of different countries around the world. The fatally injured infants have died from bites, falls and drowning. Chimpanzees in the wild may also specifically hunt human infants for food.

An alternative approach to developing guidelines for the management of an anticipated extremely preterm infant.

Objectives To identify the probability of survival and severe neurodevelopmental impairment (sNDI) at which perinatal physicians would or would not offer or recommend resuscitation at birth for extremely preterm infants. Methods A Delphi process consisting of five rounds was implemented to seek consensus (>80% agreement) amongst British Columbia perinatal physicians. The first-round consisted of neonatal and maternal-fetal-medicine Focus Groups. Rounds two to five surveyed perinatal physicians, building upon previous rounds. Draft guidelines were developed and agreement sought. Results Based on 401 responses across all rounds, consensus was obtained that resuscitation should not be offered if survival probability <5%, not recommended if survival probability 5 to <10%, resuscitation recommended if survival without sNDI probability >70 to 90% and resuscitation standard care if survival without sNDI >90%. Conclusions This physician consensus-based, objective framework for the management of an anticipated extremely preterm infant is a transparent alternative to existing guidelines, minimizing gestational-ageism and allowing for individualized management utilizing up-to-date data. Further input from other key stakeholders will be required prior to guideline implementation.

Early inotropes use is associated with higher risk of death and/or severe brain injury in extremely premature infants.

Introduction: Extremely premature infants are susceptible to fluctuations in cerebral blood flow due to immaturity of cerebral autoregulation. Inotropes may cause rapid changes to systemic blood pressure and consequently cerebral blood flow, especially within the first 72 hours of life. This period is recognized to carry the greatest risk for cerebral hemorrhage. This study evaluates the incidence of death and/or severe brain injury in extremely preterm infants treated with inotropes in the first 72 hours of life.Methods: Prospective cohort study of infants born ≤29+0 weeks gestational age (GA) between January 2013 and December 2016. Severe brain injury was defined based on head ultrasound as presence of: grade III or IV intraventricular hemorrhage (IVH), moderate to severe post-hemorrhagic ventricular dilatation (PHVD), or cystic periventricular leukomalacia (cPVL). The association between inotrope use and death and/or brain injury was explored via logistic regression controlling for predefined confounding risk factors.Results: Of 497 eligible infants, 97 (19.5%) received inotropes during the first 72 hours. GA at birth, birth weight (BW), and 5-minute Apgar scores were lower among infants who received early inotropes compared to those not treated with inotropes. A stepwise logistic regression of the predefined confounding factors showed GA, exposure for antenatal steroids, and admission hypothermia to be significant confounding factors. Adjusting for those factors, early use of inotropes was associated with increased risk of death and/or severe brain injury (AOR 4.5; 95%CI: 2.4-8.5), severe brain injury (AOR 4.2; 95% CI: 1.9-8.9), and IVH of any grade (AOR 2.9; 95%CI: 1.7-4.9).Conclusion: Early inotropes use was associated with higher risk of death and/or severe brain injury. Strict indications and strategies for minimizing inotrope use while preventing hypotension should be implemented in the early postnatal care of infants at risk for severe brain injury.

Genetic aetiology of early infant deaths in a neonatal intensive care unit.

BACKGROUND: Congenital anomalies are the leading cause of early neonatal death in neonatal intensive care units (NICUs), but the genetic causes are unclear. This study aims to investigate the genetic causes of infant deaths in a NICU in China. METHODS: Newborns who died in the hospital or died within 1 week of discharge were enrolled from Children's Hospital of Fudan University between January 1, 2015 and December 31, 2017. Whole exome sequencing was performed in all patients after death. RESULTS: There were 223 deceased newborns with a median age at death of 13 days. In total, 44 (19.7%) infants were identified with a genetic finding, including 40 with single nucleotide variants (SNVs), two with CNVs and two with both SNVs and CNVs. Thirteen (31%, 13/42) patients with SNVs had medically actionable disorders based on genetic diagnosis, which included 10 genes. Multiple congenital malformation was identified as the leading genetic cause of death in NICUs with 13 newborns identified with variants in genes related to multiple congenital malformations. For newborns who died on the first day, the most common genetic cause of death was major heart defects, while metabolic disorders and respiratory failure were more common for newborns who died in the first 2 weeks. CONCLUSION: Our study shows genetic findings among early infant deaths in NICUs and provides critical genetic information for precise genetic counselling for the families. Effective therapies enable the improvement of more than a quarter of newborns with molecular diagnoses if diagnosed in time.

Smoke-free legislation and neonatal and infant mortality in Brazil: longitudinal quasi-experimental study.

OBJECTIVE: To examine the associations of partial and comprehensive smoke-free legislation with neonatal and infant mortality in Brazil using a quasi-experimental study design. DESIGN: Monthly longitudinal (panel) ecological study from January 2000 to December 2016. SETTING: All Brazilian municipalities (n=5565). PARTICIPANTS: Infant populations. INTERVENTION: Smoke-free legislation in effect in each municipality and month. Legislation was encoded as basic (allowing smoking areas), partial (segregated smoking rooms) or comprehensive (no smoking in public buildings). Associations were quantified by immediate step and longer term slope/trend changes in outcomes. STATISTICAL ANALYSES: Municipal-level linear fixed-effects regression models. MAIN OUTCOMES MEASURES: Infant and neonatal mortality. RESULTS: Implementation of partial smoke-free legislation was associated with a -3.3 % (95% CI -6.2% to -0.4%) step reduction in the municipal infant mortality rate, but no step change in neonatal mortality. Comprehensive smoke-free legislation implementation was associated with -5.2 % (95% CI -8.3% to -2.1%) and -3.4 % (95% CI -6.7% to -0.1%) step reductions in infant and neonatal mortality, respectively, and a -0.36 (95% CI -0.66 to-0.06) annual decline in the infant mortality rate. We estimated that had all smoke-free legislation introduced since 2004 been comprehensive, an additional 10 091 infant deaths (95% CI 1196 to 21 761) could have been averted. CONCLUSIONS: Strengthening smoke-free legislation in Brazil is associated with improvements in infant health outcomes-particularly under comprehensive legislation. Governments should accelerate implementation of comprehensive smoke-free legislation to protect infant health and achieve the United Nation's Sustainable Development Goal three.

Infant mortality: the contribution of genetic disorders.

OBJECTIVE: To determine the proportion of infant deaths occurring in the setting of a confirmed genetic disorder. STUDY DESIGN: A retrospective analysis of the electronic medical records of infants born from 1 January, 2011 to 1 June, 2017, who died prior to 1 year of age. RESULTS: Five hundred and seventy three deceased infants were identified. One hundred and seventeen were confirmed to have a molecular or cytogenetic diagnosis in a clinical diagnostic laboratory and an additional seven were diagnosed by research testing for a total of 124/573 (22%) diagnosed infants. A total of 67/124 (54%) had chromosomal disorders and 58/124 (47%) had single gene disorders (one infant had both). The proportion of diagnoses made by sequencing technologies, such as exome sequencing, increased over the years. CONCLUSIONS: The prevalence of confirmed genetic disorders within our cohort of infant deaths is higher than that previously reported. Increased efforts are needed to further understand the mortality burden of genetic disorders in infancy.

Major causes of death in preterm infants in selected hospitals in Ethiopia (SIP): a prospective, cross-sectional, observational study.

BACKGROUND: Neonatal deaths now account for 47% of all deaths in children younger than 5 years globally. More than a third of newborn deaths are due to preterm birth complications, which is the leading cause of death. Understanding the causes and factors contributing to neonatal deaths is needed to identify interventions that will reduce mortality. We aimed to establish the major causes of preterm mortality in preterm infants in the first 28 days of life in Ethiopia. METHODS: We did a prospective, cross-sectional, observational study in five hospitals in Ethiopia. Study participants were preterm infants born in the study hospitals at younger than 37 gestational weeks. Infants whose gestational age could not be reliably estimated and those born as a result of induced abortion were excluded from the study. Data were collected on maternal and obstetric history, clinical maternal and neonatal conditions, and laboratory investigations. For neonates who died of those enrolled, consent was requested from parents for post-mortem examinations (both complete diagnostic autopsy and minimally invasive tissue sampling). An independent panel of experts established the primary and contributory causes of preterm mortality with available data. FINDINGS: Between July 1, 2016, to May 31, 2018, 4919 preterm infants were enrolled in the study and 3852 were admitted to neonatal intensive care units. By 28 days of post-natal age, 1109 (29%) of those admitted to the neonatal intensive care unit died. Complete diagnostic autopsy was done in 441 (40%) and minimally invasive tissue sampling in 126 (11%) of the neonatal intensive care unit deaths. The main primary causes of death in the 1109 infants were established as respiratory distress syndrome (502 [45%]); sepsis, pneumonia and meningitis (combined as neonatal infections; 331 [30%]), and asphyxia (151 [14%]). Hypothermia was the most common contributory cause of preterm mortality (770 [69%]). The highest mortality occurred in infants younger than 28 weeks of gestation (89 [86%] of 104), followed by infants aged 28-31 weeks (512 [54%] of 952), 32-34 weeks (349 [18%] of 1975), and 35-36 weeks (159 [8%] of 1888). INTERPRETATION: Three conditions accounted for 89% of all deaths among preterm infants in Ethiopia. Scale-up interventions are needed to prevent or treat these conditions. Further research is required to develop effective and affordable interventions to prevent and treat the major causes of preterm death. FUNDING: Bill & Melinda Gates Foundation.

Fetal, neonatal, and infant death in central China (Hubei): A 16-year retrospective study of forensic autopsy cases.

Data based on forensic autopsy in neonates and infants in China are rare in the literature. The purpose of this study is to evaluate the characteristics of fetal, neonatal, and infant death and to determine the main cause of death among them.A retrospective analysis of fetal and infant forensic autopsies referred to the Tongji Forensic Medical Center (TFMC) in Hubei, central China, during a 16-year period between January 1999 and December 2014, was performed.In this period, there were 1111 males and 543 females; the total male-to-female ratio (MFR) was 2.05:1. There were 173 fetal and infant autopsies conducted, comprised of 43 fetal, 84 neonatal (<28 days) and 46 infant (4 weeks to 1 year) cases. The annual case number ranged from 5 in 2004 to 18 in 2014 (annual mean of 10.8). MFR was 1.75:1. About 94% of these deaths (163/173) resulted from natural causes, 6 cases (3.5%) were accidental deaths, and 4 (2.3%) resulted from homicide (4 abandoned babies). Among fetuses, the most common causes of death were placental and umbilical cord pathologies (28%, 12/43), followed by intrapartum asphyxia resulting from amniotic fluid aspiration (AFA) or meconium aspiration syndrome (MAS) (18.6%, 8/43), congenital malformation (14%, 6/43), and intrapartum infection (9.3%, 4/43). A majority of neonatal deaths (66.7%, 56/84) died within 24 hours of birth. The main causes of neonatal death were asphyxia resulting from AFA, MAS, or hyaline membrane disease, and congenital malformation. The main causes of infant (1-12 months) death were infectious diseases, including pneumonia, meningitis, and viral brainstem encephalitis.This study was the 1st retrospective analysis of autopsies of fetal, neonatal, and infant death in TFMC and central China. We delineate the common causes of early demise among cases referred for autopsy, and report a male preponderance in this population. Our data observed that placental and/or umbilical cord pathology, asphyxia due to AFA, and/or MAS, and pneumonia were the leading causes of fetal, neonatal, and infant death, respectively. And it can inform clinical practitioners about the underlying causes of some of the most distressing cases in their practices.

Infant Deaths in Sitting Devices.

BACKGROUND AND OBJECTIVES: Annually, several hundred infant deaths occur in sitting devices (eg, car safety seats [CSSs] and strollers). Although American Academy of Pediatrics guidelines discourage routine sleeping in sitting devices, little is known about factors associated with deaths in sitting devices. Our objective was to describe factors associated with sleep-related infant deaths in sitting devices. METHODS: We analyzed 2004-2014 National Center for Fatality Review and Prevention data. The main outcome was sleep location (sitting device versus not). Setting, primary caregiver, supervisor at time of death, bed-sharing, and objects in the environment were compared by using χ2 tests and multivariable logistic regression. Descriptive statistics of additional possible risk factors were reviewed. RESULTS: Of 11 779 infant sleep-related deaths, 348 (3.0%) occurred in sitting devices. Of deaths in sitting devices, 62.9% were in CSSs, and in these cases, the CSS was used as directed in <10%. Among all sitting-device deaths, 81.9% had ≥1 risk factor, and 54.9% had ≥2 risk factors. More than half (51.6%) of deaths in CSSs were at the child's home. Compared with other deaths, deaths in sitting devices had higher odds of occurring under the supervision of a child care provider (adjusted odds ratio 2.8; 95% confidence interval 1.5-5.2) or baby-sitter (adjusted odds ratio 2.0; 95% confidence interval 1.3-3.2) compared with a parent. CONCLUSIONS: There are higher odds of sleep-related infant death in sitting devices when a child care provider or baby-sitter is the primary supervisor. Using CSSs for sleep in nontraveling contexts may pose a risk to the infant.

Impacts of the Regional Greenhouse Gas Initiative (RGGI) on infant mortality: a quasi-experimental study in the USA, 2003-2014.

OBJECTIVES: The Regional Greenhouse Gas Initiative (RGGI) is the first mandatory market-based regulatory programme to limit regional carbon dioxide (CO2) emissions in the USA. Empirical evidence has shown that high concentrations of ambient air pollutants such as CO2 have been positively associated with an increased risk of morbidity (eg, respiratory conditions including asthma and lung cancer) and premature mortality. The purpose of this study was to examine the impacts of RGGI on death rates in infancy. DESIGN: A quasi-experimental difference-in-differences design. SETTING AND PARTICIPANTS: We estimated the impacts of RGGI on infant mortality from 2003 through 2014 in the USA (6 years before and after RGGI implementation). Our analytic models included state- and year-fixed effects in addition to a number of covariates. OUTCOME MEASURES: Death rates in infancy: neonatal mortality rates (NMRs), deaths under 28 days as well as infant mortality rates (IMRs), deaths under 1 year. RESULTS: Implementation of RGGI was associated with significant decreases in overall NMRs (a reduction of 0.41/1000 live births) and male NMRs (a reduction of 0.43/1000 live births). However, RGGI did not have a significant effect on female NMRs. Similarly, overall IMRs and male IMRs decreased significantly by 0.37/1000 live births and 0.61/1000 live births, respectively, after implementation of RGGI while female IMRs were not significantly affected by RGGI. CONCLUSIONS: RGGI was associated with decreases in overall infant mortality and boy mortality through reducing air pollutant concentrations. Of note, the impact of this environmental policy on infant girls was much smaller.

Impaired CO2-Induced Arousal in SIDS and SUDEP.

Premature, sudden death is devastating. Certain patient populations are at greater risk to succumb to sudden death. For instance, infants under 1year of age are at risk for sudden infant death syndrome (SIDS), and patients with epilepsy are at risk for sudden unexpected death in epilepsy (SUDEP). Deaths are attributed to these syndromic entities in these select populations when other diagnoses have been excluded. There are a number of similarities between these syndromes, and the commonalities suggest that the two syndromes may share certain etiological features. One such feature may be deficiency of arousal to CO2. Under normal conditions, CO2 is a potent arousal stimulus. Circumstances surrounding SIDS and SUDEP deaths often facilitate CO2 elevation, and faulty CO2 arousal mechanisms could, at least in part, contribute to death.

Predictive model and determinants of under-five child mortality: evidence from the 2014 Ghana demographic and health survey.

BACKGROUND: Globally, millions of children aged below 5 years die every year and some of these deaths could have been prevented. Though a global problem, under-five mortality is also a major public health problem in Ghana with a rate of 60 deaths per 1000 live births. Identification of drivers of mortality among children aged below 5 years is an important problem that needs to be addressed because it could help inform health policy and intervention strategies aimed at achieving the United Nations SDG Goal 3 target 2. The aim of this study is to develop a predictive model and to identify determinants of under-five mortality. METHOD: The 2014 Ghana Demographic and Health Survey data was used in this study. Analyses were conducted on 5884 children. The outcome variable is child survival status (alive or dead). Single level binary logistic and multilevel logistic regression models were employed to investigate determinants of under-five mortality. The fit of the model was checked using Variance Inflation Factor and Likelihood Ratio tests. The Receiver Operating Characteristic curve was used to assess the predictive ability of the models. A p-value< 0.05 was used to declare statistical significance. RESULTS: The study observed 289 (4.91%) deaths among children aged below 5 years. The study produced a good predictive model and identified increase in number of total children ever born, number of births in last 5 years, and mothers who did not intend to use contraceptive as critical risk factors that increase the odds of under-five mortality. Also, children who were born multiple and residing in certain geographical regions of Ghana is associated with increased odds of under-five mortality. Maternal education and being a female child decreased the odds of under-five mortality. No significant unobserved household-level variations in under-five mortality were found. The spatial map revealed regional differences in crude under-five mortality rate in the country. CONCLUSION: This study identified critical risk factors for under-five mortality and strongly highlights the need for family planning, improvement in maternal education and addressing regional disparities in child health which could help inform health policy and intervention strategies aimed at improving child survival.

Minimally invasive perinatal and pediatric autopsy with laparoscopically assisted tissue sampling: feasibility and experience of the MinImAL procedure.

OBJECTIVE: Less invasive autopsy techniques in cases of fetal or infant death have good acceptability among parents, but the published sampling adequacy in needle biopsy studies is generally poor. Minimally Invasive Autopsy with Laparoscopically assisted sampling (MinImAL) has the potential to increase the diagnostic yield of less invasive autopsy by improving the quality and quantity of tissue samples obtained, whilst permitting visualization, extraction and examination of internal organs through a small incision. The aim of this study was to present the findings of our experience with the MinImAL procedure in cases of fetal, neonatal and pediatric death. METHODS: This was a retrospective analysis of 103 prospectively recruited unselected cases of fetal, neonatal or pediatric death that underwent the MinImAL procedure at a tertiary referral center over a 5-year period. Following preprocedure 1.5-T whole-body postmortem magnetic resonance imaging, MinImAL autopsy was performed. Procedure duration, sampling adequacy and cause of death were assessed. Chi-square analysis was used to compare the 'unexplained' rate of intrauterine deaths in the cohort with that in a previously published cohort of > 1000 cases of intrauterine death examined by standard autopsy. RESULTS: MinImAL autopsy was performed successfully in 97.8% (91/93) of the cases undergoing a complete procedure. There was a satisfactory rate of adequate histological sampling in most major organs; heart (100%, 91 cases), lung (100%, 91 cases), kidney (100%, 91 cases), liver (96.7%, 88 cases), spleen (94.5%, 86 cases), adrenal glands (89.0%, 81 cases), pancreas (82.4%, 75 cases) and thymus (56.0%, 51 cases). Procedure duration was similar to that of standard autopsy in a previously published cohort of intrauterine deaths. The unexplained rate in stillbirths and intrauterine fetal deaths that underwent MinImAL autopsy was not significantly different from that following standard autopsy. CONCLUSIONS: The MinImAL procedure provides good histological yield from major organs with minimal cosmetic damage and can be learned by an autopsy practitioner. The MinImAL procedure is an appropriate minimally invasive alternative for the investigation of perinatal and pediatric deaths in which consent to full autopsy is withheld, and may have applications in both high- and low/middle-income settings. Copyright © 2019 ISUOG. Published by John Wiley & Sons Ltd.

The growth-restricted fetus: risk of mortality by each additional week of expectant management.

OBJECTIVE: To compare fetal/infant mortality risk associated with each additional week of expectant management with the infant mortality risk of immediate delivery in growth-restricted pregnancies. METHODS: A retrospective cohort study was conducted of singleton, nonanomalous pregnancies from the 2005-2008 California Birth Registry comparing pregnancies affected and unaffected by growth restriction, defined using birth weights as a proxy for fetal growth restriction (FGR). Birth weights were subdivided as greater than the 90th percentile, between the 10th percentile and 90th percentile, and less than the 10th percentile. Cases greater than the 90th percentile were excluded from analysis. Cases less than the 10th percentile were considered to have FGR and were further subcategorized into <10th percentile, <5th percentile, and <3rd percentile. We compared the risk of infant death at each gestational age week against a composite risk representing the mortality risk of one additional week of expectant management. RESULTS: We identified 1,641,000 births, of which 110,748 (6.7%) were less than 10th percentile. The risk of stillbirth increased with gestational age with the risk of stillbirth at each week of gestation inversely proportional to growth percentile. The risks of fetal and infant mortality with expectant management outweighed the risk of infant death for all FGR categories analyzed beginning at 38 weeks. However, the absolute risks differed by growth percentiles, with the highest risks of infant death and stillbirth in the <3rd percentile cohort. At 39 weeks, absolute risks were low, although the number needed to deliver to prevent 1 death ranged from 413 for <3rd percentile to 2667 in unaffected pregnancies. CONCLUSION: At 38 weeks, the mortality risk of expectant management for one additional week exceeds the risk of delivery across all growth-restricted cohorts, despite variation in absolute risk by degree of growth restriction.

Preventing sudden infant death syndrome and other sleep-related infant deaths.

Sudden infant death syndrome, a type of sleep-related sudden unexpected infant death (SUID) is the leading cause of postneonatal mortality in the United States and the third leading cause of infant death overall. Despite the evidence-based risk-reduction strategies and the highly publicized campaigns for a safe sleep environment, some infants continue to sleep in unsafe sleep conditions. Clinicians need to know the current best practices to reduce the incidence of sleep-related SUID and be knowledgeable to counsel caregivers who may resist adhering to these recommendations. This article describes the different types of SUID, associated risk factors, and highlights recommendations to help parents and caregivers ensure safe sleep environments for infants.

Improving program targeting to combat early-life mortality by identifying high-risk births: an application to India.

BACKGROUND: It is widely recognized that there are multiple risk factors for early-life mortality. In practice most interventions to curb early-life mortality target births based on a single risk factor, such as poverty. However, most premature deaths are not from the targeted group. Thus interventions target many births that are at not at high risk and miss many births at high risk. METHODS: Using data from the second wave of Demographic and Health Surveys from India and a hierarchical Bayesian model, we estimate infant mortality risk for 73.320 infants in India as a function of 4 risk factors. We show how this information can be used to improve program targeting. We compare our novel approach against common programs that target groups based on a single risk factor. RESULTS: A conventional approach that targets mothers in the lowest quintile of income correctly identifies only 30% of infant deaths. By contrast, using four risk factors simultaneously we identify a group of births of the same size that includes 57% of all deaths. Using the 2012 census to translate these percentages into numbers, there were 25.642.200 births in 2012 and 4.4% died before the age of one. Our approach correctly identifies 643.106 of 1.128.257 infant deaths while poverty only identifies 338.477 infant deaths. CONCLUSION: Our approach considerably improves program targeting by identifying more infant deaths than the usual approach that targets births based on a single risk factor. This leads to more efficient program targeting. This is particularly useful in developing countries, where resources are lacking and needs are high.

Peri-mortem evaluation of infants who die without a diagnosis: focus on advances in genomic technology.

Infants who die within the first weeks to months of life may have genetic disorders, though many die without a confirmed diagnosis. Non-genetic conditions may also be responsible for unexplained infant deaths, and the diagnosis may be reliant upon studies performed in the peri-mortem period. Neonatologists, obstetricians, or pediatricians caring for these children and their families may be unsure of which investigations can and should be performed in the setting of a newborn or infant who is dying or has died. Recent advances in genomic sequencing technology may provide additional diagnostic options, though the interpretation of genetic variants discovered by this technique may be contingent upon clinical phenotype information that is obtained peri-mortem or upon autopsy. We have reviewed the current literature concerning the evaluation of an unexplained neonatal or infantile demise and synthesized a diagnostic approach, with a focus on the contribution of new and emerging genomic technologies.

Sociodemographic Factors and Survival of Infants With Congenital Heart Defects.

OBJECTIVES: To examine the first-year survival of infants with congenital heart defects (CHDs) and investigate the potential role of socioeconomic and demographic factors on survival. METHODS: Subjects included 15 533 infants with CHDs born between 2004 and 2013 ascertained by the NC Birth Defects Monitoring Program. We classified CHDs into the following 3 groups: critical univentricular (n = 575), critical biventricular (n = 1494), and noncritical biventricular (n = 13 345). We determined vital status and age at death through linkage to state vital records and used geocoded maternal residence at birth to obtain census information for study subjects. We calculated Kaplan-Meier survival estimates by maternal and infant characteristics and derived hazard ratios from Cox proportional hazard models for selected exposures. RESULTS: Among all infants with CHDs, there were 1289 deaths (8.3%) in the first year. Among infants with univentricular defects, 61.6% (95% confidence interval [CI]: 57.7%-65.7%) survived. Survival among infants with univentricular defects was considerably better for those whose fathers were ≥35 years old (71.6%; 95% CI: 63.8%-80.3%) compared with those whose fathers were younger (59.7%; 95% CI: 54.6%-65.2%). Factors associated with survival among infants with any biventricular defect included maternal education, race and/or ethnicity, marital status, and delivery at a heart center. The hazard of infant mortality was greatest among non-Hispanic African American mothers. CONCLUSIONS: Survival among infants with critical univentricular CHDs was less variable across sociodemographic categories compared with survival among infants with biventricular CHDs. Sociodemographic differences in survival among infants with less severe CHDs reinforces the importance of ensuring culturally effective pediatric care for at-risk infants and their families.