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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.

OBJECTIVES Studies in adult patients have shown that do-not-resuscitate orders are often associated with decreased medical intervention. In neonatology, this phenomenon has not been investigated, and how do-not-resuscitate orders potentially affect clinical care is unknown. DESIGN Retrospective medical record data review and staff survey responses about neonatal ICU do-not-resuscitate orders. SETTING Four academic neonatal ICUs. SUBJECTS Clinical staff members working in each neonatal ICU. INTERVENTIONS Survey response collection and analysis. MEASUREMENTS AND MAIN RESULTS Participating neonatal ICUs had 14-48 beds and 120-870 admissions/yr. Frequency range of do-not-resuscitate orders was 3-11 per year. Two-hundred fifty-seven surveys were completed (46% response). Fifty-nine percent of respondents were nurses; 20% were physicians. Over the 5-year period, 44% and 17% had discussed a do-not-resuscitate order one to five times and greater than or equal to 6 times, respectively. Fifty-seven percent and 22% had cared for one to five and greater than or equal to 6 patients with do-not-resuscitate orders, respectively. Neonatologists, trainees, and nurse practitioners were more likely to report receiving training in discussing do-not-resuscitate orders or caring for such patients compared with registered nurses and respiratory therapists (p < 0.001). Forty-one percent of respondents reported caring for an infant in whom interventions had been withheld after a do-not-resuscitate order had been placed without discussing the specific withholding with the family. Twenty-seven percent had taken care of an infant in whom interventions had been withdrawn under the same circumstances. Participants with previous experiences withholding or withdrawing interventions were more likely to agree that these actions are appropriate (p < 0.001). CONCLUSIONS Most neonatal ICU staff report experience with do-not-resuscitate orders; however, many, particularly nurses and respiratory therapists, report no training in this area. Variable beliefs with respect to withholding and withdrawing care for patients with do-not-resuscitate orders exist among staff. Because neonatal ICU patients with do-not-resuscitate orders may ultimately survive, withholding or withdrawing interventions may have long-lasting effects, which may or may not coincide with familial intentions.

I am very excited to present this special issue to commemorate the 20th anniversary of NeoReviews . We begin with a perspective from Dr Alistair Philip, Editor-in-Chief from 2007 to 2017, on the past 20 years in neonatology. Then, Drs David Stevenson and William Hay Jr (the founders of NeoReviews ), along with Ronald Wong, write about their expectations for the future of our specialty. This issue also contains state-of-the-art reviews about inborn errors of metabolism and several NeoReviews monthly features. I want to take this opportunity to highlight some of the new features that NeoReviews has recently added and to describe the future direction of the journal. In October 2018, NeoReviews launched “NeoQuest.” Readers now receive an email mid-month containing a visual diagnostic challenge inspired by articles from that month’s issue of NeoReviews . If you are a subscriber …

Transient myeloproliferative disorder (TMD), also known as transient acute myelopoiesis, is a myeloproliferative condition that occurs in the perinatal period in up to 10% of patients who have Down syndrome. Because of the perinatal presentation of this disorder, neonatal clinicians should be familiar with its clinical presentation, management, and outcomes. Affected patients develop severe myeloproliferation of megakaryocytic precursor cells, leading initially to hepatosplenomegaly and liver dysfunction. If the disorder develops prenatally, affected fetuses may also develop hydrops. The disorder requires the presence of 2 genetic abnormalities: trisomy of the gene ERG, located on chromosome 21, and a mutation of the GATA1 gene. The disease typically regresses spontaneously if the patient receives supportive care through the acute illness, although overall mortality of TMD is about 20%.

Subxiphoid chest ultrasonography is performed in an infant with respiratory distress. See video below to review. Video. Click here to view the video. Of the following chest radiographs shown on the next page, the most likely chest radiograph in this infant is: 1. 2. 3. 4. Correct Response: Radiograph C. The focused subxiphoid chest ultrasonogram of this infant was obtained in the transverse plane to assess for diaphragmatic movement. The video shows decreased excursion of the left hemidiaphragm during both inspiration and expiration (still image shown in the Figure). The right hemidiaphragm has normal movements. There is no evidence of a pleural effusion or extrapleural air. These ultrasonographic findings are most consistent with a left diaphragmatic paresis. Figure. Still image of subxiphoid chest ultrasonography in a neonate with respiratory distress. The left diaphragm remains flaccid throughout the breathing cycle. Radiograph C is the most likely chest radiograph of the infant in the video. This image shows an elevated left hemidiaphragm, corresponding to a unilateral left diaphragmatic paresis. The lateral decubitus view in Radiograph A shows a left pleural effusion that layers out when the infant …

The physiology of the fetus is fundamentally different from the neonate, with both structural and functional distinctions. The fetus is well-adapted to the relatively hypoxemic intrauterine environment. The transition from intrauterine to extrauterine life requires rapid, complex, and well-orchestrated steps to ensure neonatal survival. This article explains the intrauterine physiology that allows the fetus to survive and then reviews the physiologic changes that occur during the transition to extrauterine life. Asphyxia fundamentally alters the physiology of transition and necessitates a thoughtful approach in the management of affected neonates.

Neonatology fellows must become competent at performing medical procedures during their fellowship training, and neonatology faculty members need to continue to maintain these skills. However, technical proficiency is challenging to attain and sustain. In this review, we present an overview of the cognitive theory of learning a technical skill and provide a structured, practical approach to teaching and supervising medical procedures. This educational paradigm can be tailored on the basis of learner experience, learner aptitude, and type of procedure. This review also summarizes potential strategies to assess procedural competence.

The 360-degree assessment is a new paradigm in medical evaluation in which a trainee is evaluated by multiple people in his or her sphere of influence. Evaluators measure identical parameters using the same rating scale, with an additional subset of uniquely designed items to capture areas particular to certain groups. This tool can help to identify differences between the trainee's self-assessment and ratings by other evaluators. Recent studies have shown that the 360-degree assessment is a reliable and valid instrument to improve physician performance. In addition, 360-degree feedback has been shown to provide training programs with a reproducible, quantifiable tool to assess the Accreditation Council for Graduate Medical Education (AGCME) competencies of their trainees. This review describes a step-by-step process outlining this new paradigm of trainee assessment. Although further research is necessary, studies thus far reveal that with thoughtful planning and implementation, the 360-degree assessment tool provides trainees with constructive feedback to elevate the level of patient care.

This review presents a systematic approach to curriculum development, divided into five steps: 1) perform a needs assessment, 2) define the goals and learning objectives, 3) identify resources, 4) develop educational strategies and implement the curriculum, and 5) evaluate and modify the curriculum. Although the curriculum developmental stages are presented in five ordered steps, curriculum development is actually a dynamic, interactive process, in which development of one step naturally affects other steps. Learners are central to this process, and with each step, the instructor needs to be mindful of the learners' needs and prior experiences, using a variety of educational strategies to reach trainees with different learning styles.

Feedback promotes learning and ensures that trainees achieve predetermined standards. Feedback can be formative or summative. Learners should be encouraged to be self-reflective, and the teacher and learner should work together as allies to maximize the learner's potential. Reviewers should be prepared to respond to defensive reactions and to consider their own biases. This article offers illustrative examples of effective and ineffective feedback.

Neonatal hemochromatosis (NH), although rare, is the most common cause of liver failure in the neonate. This disorder is associated with extrahepatic siderosis and has been called neonatal iron storage disease. The pathogene sis was a mystery until 2004, when Peter Whitington hypothesized that NH may be an immune-mediated disorder. Clinical and laboratory findings demonstrate liver failure but usually are nonspecific. Evidence of extrahepatic siderosis by magnetic resonance imaging with decreased intensity of T2-weighted sequences of specific organs confirms the diagnosis. Treatment of NH is challenging, and survival rates are dismal despite medical agents (ie, iron chelators and antioxidants) or liver transplantation. Recently, NH has been prevented in subsequent pregnancies by administering intrauterine immunoglobulin to pregnant women, changing NH from a lethal to a nonlethal disease.

Bronchopulmonary dysplasia is the most common morbidity among surviving premature infants. Injury to the developing lung is the result of the interaction between a susceptible host and a number of contributing factors such as mechanical ventilation and infection. The resulting persistent impairment of pulmonary function and need for ongoing therapy are the underlying characteristics of bronchopulmonary dysplasia. Important insights into the pathogenesis of bronchopulmonary dysplasia have led to numerous therapies and preventive approaches. Although significant progress has been made, in order to further affect the incidence and severity of the disease, we need to further study (a) the genetically determined predisposing factors, (b) the relative contribution of the various pathogenetic pathways, and, most important, (c) how to best translate the knowledge gained from these studies into effective clinical approaches.

Helicobacter pylori infection represents a key factor in the etiology of various gastrointestinal diseases. There are several acceptable methods to identify this microorganism. Some are invasive and some are noninvasive. This study demonstrates the use of BACTEC™ FX system for the growth and diagnosis of H. pylori isolated from gastric biopsy specimens, cut and placed in blood culture bottles, with subsequent incubation in the apparatus. Twenty-five positive and 15 negative biopsy samples tested using the quick urease technique, CUTest®, were collected from 40 patients with confirmed chronic gastric inflammation. The biopsy samples were manually cut using a sterile scalpel and placed in tubes containing 5 ml of fetal bovine serum. The resulting suspensions were transferred using a syringe into anaerobic blood culture bottles. These bottles were incubated at 35 °C for a period of 7 days in the BACTEC™ FX system. All biopsy samples that reacted positive to the CUTest® and one biopsy sample that reacted negative to the CUTest® were confirmed as positive by the BACTEC™ FX system. In addition, there was a correlation between the positive culture and histology examination results. The use of BACTEC™ FX system significantly shortens the time needed for culturing, which makes the system more efficient in the identification of H. pylori. It should be emphasized that performing microbial culture testing has a significant role in monitoring antibiotic resistance, which cannot be done using other existing methods for H. pylori diagnosis.

Regulation of fetal growth is multifactorial and complex. Diverse factors, including intrinsic fetal conditions as well as maternal and environmental factors, can lead to intrauterine growth restriction (IUGR). The interaction of these factors governs the partitioning of nutrients and rate of fetal cellular proliferation and maturation. Although IUGR is probably a physiologic adaptive response to various stimuli, it is associated with distinct short- and long-term morbidities. Immediate morbidities include those associated with prematurity and inadequate nutrient reserve, while childhood morbidities relate to impaired maturation and disrupted organ development. Potential long-term effects of IUGR are debated and explained by the fetal programming hypothesis. In formulating a comprehensive approach to the management and follow-up of the growth-restricted fetus and infant, physicians should take into consideration the etiology, timing, and severity of IUGR. In addition, they should be cognizant of the immediate perinatal response of the growth-restricted infant as well as the childhood and long-term associated morbidities. A multi disciplinary approach is imperative, including early recognition and obstetrical management of IUGR, assessment of the growth-restricted newborn in the delivery room, possible monitoring in the neonatal intensive care unit, and appropriate pediatric follow-up. Future research is necessary to establish effective preventive, diagnostic, and therapeutic strategies for IUGR, perhaps affecting the health of future generations.

1998;114;25S-28S Chest Hideo Koike, Dara Brodsky, Victoria Arthur and S. Alex Mitsial Stella Kourembanas, Toshisuke Morita, Helen Christou, Yuxiang Liu, Hypoxic Responses of Vascular Cells ation http://chestjournal.chestpubs.org/content/114/1_Supplement/25S.1.cit services can be found online on the World Wide Web at: The online version of this article, along with updated information and ISSN:0012-3692 ) http://chestjournal.chestpubs.org/site/misc/reprints.xhtml ( prior written permission of the copyright holder. this article or PDF may be reproduced or distributed without the Dundee Road, Northbrook, IL 60062. All rights reserved. No part of Copyright1998by the American College of Chest Physicians, 3300 Physicians. It has been published monthly since 1935. is the official journal of the American College of Chest Chest

Objective: In this study, we explored the providers’ perspective of difficult conversations in neonatal critical care. Methods: Between 2008 and 2011, interprofessional neonatal providers voluntarily attended the Program to Enhance Relational and Communication Skills-NICU workshops at Boston Children’s Hospital. We analyzed seventy-four participant narratives that described a difficult conversation in the NICU that was particularly challenging or satisfying. Results: Participants described memorable conversations that were exclusively challenging (n = 51), both challenging and satisfying (n = 22), and exclusively satisfying (n = 1). We identified five broad domains (Infant’s Clinical Situation, Family Characteristics, Provider Characteristics, the Provider-Family Relationship, and Satisfying Elements) and several themes that further characterized the providers’ perspectives. Conclusion: Understanding the practitioners’ experience with difficult conversations may help staff to anticipate some challenges inherent in neonatal discussions and to design communication and relational learning educational efforts.

The aim of this study is to show the efficacy of the Program to Enhance Relational and Communication Skills–Neonatal Intensive Care Unit (PERCS-NICU). In this study, 74 practitioners attended workshops and completed baseline, post-training and follow-up questionnaires. On yes/no questions, 93 to 100% reported improved preparation, communication skills and confidence post-training and follow-up. A total of 94 and 83% improved their ability to establish relationships, and 76 and 83% reported reduced anxiety post-training and follow-up, respectively. On Likert items, 59 and 64% improved preparation, 45 and 60% improved communication skills and confidence, 25 and 53% decreased anxiety and 16 and 32% improved relationships post-training and follow-up, respectively. Qualitative themes included integrating new communication and relational abilities, honoring the family perspective, appreciating interdisciplinary collaboration, personal/human connection and valuing the learning. In total, 93% applied skills learned, three-quarters transformed practice and 100% recommended PERCS-NICU. After PERCS-NICU, clinicians improved preparation, communication and relational abilities, confidence and reduced anxiety when holding difficult neonatal conversations.

To analyze the communicative contributions of interdisciplinary professionals and family members in enacted difficult conversations in neonatal intensive care. Physicians, nurses, social workers, and chaplains (n=50) who attended the Program to Enhance Relational and Communication Skills, participated in a scenario of a preterm infant with severe complications enacted by actors portraying family members. Twenty-four family meetings were videotaped and analyzed with the Roter Interaction Analysis System (RIAS). Practitioners talked more than actor-family members (70 vs 30%). Physicians provided more biomedical information than psychosocial professionals (P

Background : Integration of web-based educational tools into medical training has been shown to increase accessibility of resources and optimize teaching. We developed a web-based educational portal (WBEP) to support teaching of pediatric residents about newborn medicine by neonatology fellows. Objectives : 1) To compare residents’ attitudes about their fellow-led education in the NICU pre- and post-WBEP; including assessment of factors that impact their education and usefulness of teaching tools. 2) To compare fellow utilization of various teaching modalities pre- and post-WBEP. Design/methods : We queried residents about their attitudes regarding fellow-led education efforts and various teaching modalities in the NICU and logistics potentially impacting effectiveness. Based on these data, we introduced the WBEP – a repository of teaching tools (e.g., mock code cases, board review questions, journal articles, case-based discussion scenarios) for use by fellows to supplement didactic sessions in a faculty-based curriculum. We surveyed residents about the effectiveness of fellow teaching pre- and post-WBEP implementation and the type of fellow-led teaching modalities that were used. Results : After analysis of survey responses, we identified that residents cited fellow level of interest as the most important factor impacting their education. Post-implementation, residents described greater utilization of various teaching modalities by fellows, including an increase in use of mock codes (14% to 76%, p

From the Department of Pediatrics, Boston Medical Center, Boston University School of Medicine; and Department of Neonatology, Beth Israel Deaconess W e created a neonatal intensive care unit (NICU) graduate home visitation program in April 2010 to increase awareness among pediatric first-year residents (ie, interns) of the difficulties parents face when caring for recently discharged infants. One year later, we surveyed the participating interns to examine the feasibility of the NICU Home Visit Program and determine whether participation in this program improved resident self-report of comfort with anticipating needs of NICU infants after discharge. We will describe our NICU Home Visit Program and survey results in this commentary.