http://neoreviews.aappublications.org Pediatrics RSS feed -- recent issues 1526-9906 NeoReviews http://neoreviews.aappublications.org/icons/banner/title.gif http://neoreviews.aappublications.org http://neoreviews.aappublications.org/cgi/content/full/9/10/e439?rss=1 2008-10-01 info:doi/10.1542/neo.9-10-e439 American Academy of Pediatrics 10 9 e446 2008-10-01 e439 Articles http://neoreviews.aappublications.org/cgi/content/abstract/9/10/e447?rss=1 A variety of insults can contribute to lung inflammation in the neonatal period. Many of these insults exert their effects through activation or suppression of critical transcription factor pathways. The effect of these pathways on gene transcription/protein translation has a direct impact on lung development, labor induction and the intra-amniotic milieu, and postnatal lung inflammation.

]]> 2008-10-01 info:doi/10.1542/neo.9-10-e447 American Academy of Pediatrics 10 9 e457 2008-10-01 e447 Articles http://neoreviews.aappublications.org/cgi/content/abstract/9/10/e458?rss=1 Inherited disorders of surfactant metabolism are rare causes of respiratory disease in newborns but are associated with significant morbidity and mortality. This review outlines the molecular basis and pathophysiology of the three currently identified single-gene disorders of surfactant metabolism as well as the clinical presentations and evaluation of potentially affected infants. Implications for the understanding of normal surfactant metabolism and the potential roles of surfactant dysfunction mutations in more common neonatal disorders, such as respiratory distress syndrome, also are discussed.

]]> 2008-10-01 info:doi/10.1542/neo.9-10-e458 American Academy of Pediatrics 10 9 e467 2008-10-01 e458 Articles http://neoreviews.aappublications.org/cgi/content/abstract/9/10/e468?rss=1 Inherited disorders of surfactant metabolism are rare diseases that provide unique opportunities for understanding the mechanisms of surfactant function and metabolism. Presenting both as acute respiratory dysfunction in the neonatal period with a predictably lethal outcome as well as chronic respiratory insufficiency of variable onset and unpredictable natural histories, these disorders present unique challenges for clinicians and families because the treatment options are limited to lung transplantation and compassionate care. We briefly review the known inherited surfactant disorders, the challenges associated with offering lung transplantation for these disorders, and the outcomes.

]]> 2008-10-01 info:doi/10.1542/neo.9-10-e468 American Academy of Pediatrics 10 9 e476 2008-10-01 e468 Articles http://neoreviews.aappublications.org/cgi/content/abstract/9/10/e477?rss=1 Exposure to a chronic persistent patent ductus arteriosus (PDA) is associated with several neonatal morbidities, but whether such outcomes are as a result of a persistent left-to-right shunt across the PDA or as a consequence of prematurity remains in question. Animal studies have shown significant benefit to early PDA closure, but such findings have not been replicated in any human trial. Both pharmacologic and surgical treatment options exist for closing a PDA, both of which have their own morbidities. Although the incidence of PDA is high in preterm infants, there also is a high rate of spontaneous PDA closure. Treatment of a PDA is not benign and has not been shown to prevent any morbidities associated with prematurity. For this reason, there has been much debate in recent years as to when a PDA is pathologic and when closure is indicated. This discussion focuses on the debate, treatment options for PDA, and outcomes associated with PDA and its treatment.

]]> 2008-10-01 info:doi/10.1542/neo.9-10-e477 American Academy of Pediatrics 10 9 e482 2008-10-01 e477 Articles http://neoreviews.aappublications.org/cgi/content/full/9/10/e483?rss=1 2008-10-01 info:doi/10.1542/neo.9-10-e483 American Academy of Pediatrics 10 9 e487 2008-10-01 e483 Articles http://neoreviews.aappublications.org/cgi/content/full/9/10/e488?rss=1 2008-10-01 info:doi/10.1542/neo.9-10-e488 American Academy of Pediatrics 10 9 e494 2008-10-01 e488 Articles http://neoreviews.aappublications.org/cgi/content/short/9/10/e495?rss=1 2008-10-01 info:doi/10.1542/neo.9-10-e495 American Academy of Pediatrics 10 9 e495 2008-10-01 e495 Visual Diagnosis http://neoreviews.aappublications.org/cgi/content/full/9/9/e369?rss=1 2008-09-02 info:doi/10.1542/neo.9-9-e369 American Academy of Pediatrics 9 9 e369 2008-09-01 e369 Articles http://neoreviews.aappublications.org/cgi/content/abstract/9/9/e370?rss=1 Twin-to-twin transfusion syndrome (TTTS) may be acute or chronic, but chronic TTTS complicates 10% to 20% of monochorionic twin gestations and has an 80% to 100% mortality rate if severe and left untreated. Both types are due to the presence of placental anastomoses between the two twins, but the mechanisms involved in the development of chronic TTTS are particularly complex and incompletely understood. Many of the apparent pathogenic mechanisms have implications for the appearances and cardiovascular and physiologic disturbances of neonates born following this intrauterine condition and their response to treatment. We present an update in the pathogenesis of TTTS that includes an overview of the placental features, fetal adaptive and maladaptive responses, and molecular mechanisms involved in the development of TTTS.

]]> 2008-09-02 info:doi/10.1542/neo.9-9-e370 American Academy of Pediatrics 9 9 e379 2008-09-01 e370 Articles http://neoreviews.aappublications.org/cgi/content/abstract/9/9/e380?rss=1 Most anomalies seen in fetuses and neonates who have chronic twin-to-twin transfusion syndrome (TTTS) represent sequelae of cardiovascular dysfunction or vascular disruption. The placental examination can provide critical information to the neonatologist caring for infants who have a history of TTTS, especially in instances wherein the twins are not necessarily growth-discordant but have cardiovascular or renal dysfunction or neuropathologic findings. In this review, we present an updated discussion of the fetal and neonatal pathologies and adverse sequelae associated with TTTS and advances in antenatal diagnosis and clinical interventions for monochorionic gestations complicated by TTTS. We also present highlights of the placental examination so the neonatologist can inspect the placenta at the time of delivery and possibly gain insights that may affect patient care.

]]> 2008-09-02 info:doi/10.1542/neo.9-9-e380 American Academy of Pediatrics 9 9 e392 2008-09-01 e380 Articles http://neoreviews.aappublications.org/cgi/content/abstract/9/9/e393?rss=1 The high morbidity and mortality rates of twin-to-twin transfusion syndrome (TTTS) generally are related to sequelae of cardiovascular dysfunction or vascular disruption. Neurologic sequelae associated with TTTS are emerging concerns for survivors. A variety of clinical interventions, including amnioreduction, microseptostomy of the inter-twin membrane, and fetoscopic laser photocoagulation of placental anastomoses, have been used alone or in sequence to reduce the rates of mortality and morbidity. Because many of these specialized interventional procedures are performed at select centers in the United States, women may be treated at considerable distance from their primary obstetric care institutions and later return to deliver at their local facilities. Neonatologists may be unfamiliar with the relative efficacies and outcomes of the interventional procedures. In this review, we present a focused summary of the neurodevelopmental outcomes associated with these antenatal treatments.

]]> 2008-09-02 info:doi/10.1542/neo.9-9-e393 American Academy of Pediatrics 9 9 e398 2008-09-01 e393 Articles http://neoreviews.aappublications.org/cgi/content/abstract/9/9/e399?rss=1 Understanding the fundamental histopathology of chorionic villitis, intervillositis, and chorionic vascular thrombi, known as fetal thrombotic vasculopathy, can enable neonatologists to interpret placental pathology reports. In addition, such understanding helps them to provide parents with explanations about their infants’ conditions, short- and long-term prognoses, and risk factors for subsequent pathologies.

]]> 2008-09-02 info:doi/10.1542/neo.9-9-e399 American Academy of Pediatrics 9 9 e410 2008-09-01 e399 Articles http://neoreviews.aappublications.org/cgi/content/abstract/9/9/e411?rss=1 Chorioamnionitis is a common complication of pregnancy, especially in preterm deliveries. This review covers the current understanding of the implications of the maternal and fetal inflammatory response in assessing the risk of neonatal sepsis, complications of prematurity, and risk of adverse neurologic sequelae.

]]> 2008-09-02 info:doi/10.1542/neo.9-9-e411 American Academy of Pediatrics 9 9 e417 2008-09-01 e411 Articles http://neoreviews.aappublications.org/cgi/content/full/9/9/e418?rss=1 2008-09-02 info:doi/10.1542/neo.9-9-e418 American Academy of Pediatrics 9 9 e421 2008-09-01 e418 Articles http://neoreviews.aappublications.org/cgi/content/full/9/9/e422?rss=1 2008-09-02 info:doi/10.1542/neo.9-9-e422 American Academy of Pediatrics 9 9 e430 2008-09-01 e422 Articles http://neoreviews.aappublications.org/cgi/content/short/9/9/e431?rss=1 2008-09-02 info:doi/10.1542/neo.9-9-e431 American Academy of Pediatrics 9 9 e431 2008-09-01 e431 Visual Diagnosis http://neoreviews.aappublications.org/cgi/content/abstract/9/8/e321?rss=1 The ability to communicate effectively with families in the neonatal intensive care unit (NICU) is an essential skill for clinicians. Parental satisfaction and trust depend on the perception of open communication that reflects compassion, honesty, and caring. Families struggling with difficult situations in the NICU derive great benefit from discussions in which information is provided clearly and with empathy. Strategies for delivering bad news have been developed within the medical community and can be adapted for difficult discussions in the NICU. Such strategies can be integrated within an interactive curriculum that emphasizes simulation and role play to promote competency in communication skills.

]]> 2008-08-01 info:doi/10.1542/neo.9-8-e321 American Academy of Pediatrics 8 9 e325 2008-08-01 e321 Articles http://neoreviews.aappublications.org/cgi/content/abstract/9/8/e326?rss=1 Neonates are potent incentive stimuli who regulate the mother's ability and motivation to engage in costly care-taking activities during a most vulnerable period of their early life. Laboratory animal studies as well as functional neuroimaging in human mothers have shown that the medial preoptic area of the hypothalamus and its projections to the mesocorticolimbic dopaminergic system regulate the motivational aspects of maternal behavior. Peripartum hormonal changes acting in these brain areas enhance the reinforcing value of the newborns and promote in the mother the highly motivated behavior observed immediately after parturition. A better understanding of the neural mechanisms that regulate the motivational aspects of maternal behavior can help to increase awareness of the importance of the early maternal/parental-infant interaction as well as to identify possible biological factors that underlie anomalies in human maternal behavior.

]]> 2008-08-01 info:doi/10.1542/neo.9-8-e326 American Academy of Pediatrics 8 9 e331 2008-08-01 e326 Articles http://neoreviews.aappublications.org/cgi/content/abstract/9/8/e332?rss=1 Since the discovery of cell-free fetal DNA (cffDNA) in peripheral maternal blood a decade ago, advances have been made in the identification and clinical application of these segments. Most studies of cffDNA have focused on using the segments for sex determination and fetal Rh genotyping, employing differences in genomic DNA between mother and fetus. Research has shifted toward targeting cffDNA for noninvasive aneuploidy detection. Over the last decade, a tremendous volume of research has focused on advancing the understanding of cffDNA structure, function, and detection. Despite this growing body of evidence, gaps in understanding of the biology of cffDNA and challenges in its isolation, enrichment, and processing have limited clinical applications in noninvasive prenatal diagnosis.

]]> 2008-08-01 info:doi/10.1542/neo.9-8-e332 American Academy of Pediatrics 8 9 e337 2008-08-01 e332 Articles http://neoreviews.aappublications.org/cgi/content/abstract/9/8/e338?rss=1 Advances in the diagnosis of congenital defects have led to the development of a multidisciplinary approach to prenatal counseling and postnatal management. New techniques in fetal imaging, including magnetic resonance imaging (MRI), provide clinicians with better anatomic detail of such anomalies. This added information facilitates frank prenatal discussions with families, anticipating challenges in delivery room resuscitation and planning of postnatal care. In this report, we review three cases of giant omphalocele (GO) at our institution, highlighting the changes in practice management for prenatal diagnosis and consultation. We discuss controversies regarding mode of delivery and describe the evolution toward an initial nonsurgical approach to GO.

]]> 2008-08-01 info:doi/10.1542/neo.9-8-e338 American Academy of Pediatrics 8 9 e347 2008-08-01 e338 Articles http://neoreviews.aappublications.org/cgi/content/abstract/9/8/e348?rss=1 Increasing use of antenatal screening and genetic testing has created the circumstance of a woman who finds herself pregnant with a fetus that is known to be unsound. Some practitioners have become so concerned about the prospect of the less-than-perfect fetus that they have projected their personal desires into the care that they provide, thereby eliminating the possibility of following the natural history of the pregnancy. To serve the needs of these patients, a perinatal hospice service has been created.

]]> 2008-08-01 info:doi/10.1542/neo.9-8-e348 American Academy of Pediatrics 8 9 e352 2008-08-01 e348 Articles http://neoreviews.aappublications.org/cgi/content/full/9/8/e353?rss=1 2008-08-01 info:doi/10.1542/neo.9-8-e353 American Academy of Pediatrics 8 9 e354 2008-08-01 e353 Articles http://neoreviews.aappublications.org/cgi/content/full/9/8/e355?rss=1 2008-08-01 info:doi/10.1542/neo.9-8-e355 American Academy of Pediatrics 8 9 e360 2008-08-01 e355 Articles http://neoreviews.aappublications.org/cgi/content/short/9/8/e361?rss=1 2008-08-01 info:doi/10.1542/neo.9-8-e361 American Academy of Pediatrics 8 9 e361 2008-08-01 e361 Visual Diagnosis http://neoreviews.aappublications.org/cgi/content/full/9/7/e279?rss=1 2008-07-01 info:doi/10.1542/neo.9-7-e279 American Academy of Pediatrics 7 9 e281 2008-07-01 e279 Articles http://neoreviews.aappublications.org/cgi/content/abstract/9/7/e282?rss=1 Because genetic conditions can alter the health of neonates, it is important for neonatologists to become familiar with the indications for testing and major issues in the interpretation of results. The two primary molecular cytogenetic techniques are fluorescence in situ hybridization and array comparative genomic hybridization, which allow detection of deletions, duplications, and rearrangements of small regions within the chromosome. Direct mutation analysis of DNA can be targeted to a specific variant known to be associated with disease. Epigenetic factors can affect gene expression without altering the genotype. For example, genomic imprinting (differential expression of a gene) causes several genetic disorders. Most molecular genetic testing performed in the newborn nursery is for purposes of diagnosis. Important differences in analytic validity, clinical validity, and clinical utility distinguish genetic testing from more traditional laboratory testing, and the implications of these differences must be considered when ordering such tests.

]]> 2008-07-01 info:doi/10.1542/neo.9-7-e282 American Academy of Pediatrics 7 9 e290 2008-07-01 e282 Articles http://neoreviews.aappublications.org/cgi/content/abstract/9/7/e291?rss=1 Early detection and management of inborn errors of metabolism (IEMs) can improve the affected infant's prognosis. Initial screening tests can provide a general overview of the infant's metabolic status and suggest potential IEMs. Among the clinical findings seen in many IEMs are encephalopathy, hypoglycemia, jaundice and liver disease, cardiac arrhythmias, cardiomyopathy, hypotonia, dysmorphic features, and nonimmune hydrops. Confirmatory testing (enzyme analysis or molecular DNA testing) are required to make the diagnosis. Clinicians should be aware of specific requirements for such testing to obtain the desired results.

]]> 2008-07-01 info:doi/10.1542/neo.9-7-e291 American Academy of Pediatrics 7 9 e298 2008-07-01 e291 Articles http://neoreviews.aappublications.org/cgi/content/abstract/9/7/e299?rss=1 Neonatologists often care for newborns who have multiple congenital anomalies. The specific diagnosis has implications for the infant's clinical management. In this article, we examine the neonatal presentations of CHARGE syndrome and VATER/VACTERL association. Once the features of these two entities are recognized clinically, the appropriate diagnostic evaluations can be initiated.

]]> 2008-07-01 info:doi/10.1542/neo.9-7-e299 American Academy of Pediatrics 7 9 e304 2008-07-01 e299 Articles http://neoreviews.aappublications.org/cgi/content/abstract/9/7/e305?rss=1 Autoimmune thyroid disease is common in pregnancy. Graves disease is present in about 0.2% of pregnancies, and clinical hyperthyroidism occurs in approximately 1% of neonates born to women who have Graves disease. Antibodies to the thyroid-stimulating hormone receptor (TSH-R) (stimulating or blocking) freely cross the placenta and can act in the fetal thyroid gland during the second half of pregnancy. A few cases of fetal hyperthyroidism or hypothyroidism related to maternal TSH-R antibodies (TRAbs) have been reported. Neonatal hyperthyroidism or thyrotoxicosis is usually apparent by 10 days after birth. Such states should be considered emergencies and treated promptly to prevent damage in the newborn.

]]> 2008-07-01 info:doi/10.1542/neo.9-7-e305 American Academy of Pediatrics 7 9 e309 2008-07-01 e305 Articles http://neoreviews.aappublications.org/cgi/content/full/9/7/e310?rss=1 2008-07-01 info:doi/10.1542/neo.9-7-e310 American Academy of Pediatrics 7 9 e312 2008-07-01 e310 Articles http://neoreviews.aappublications.org/cgi/content/short/9/7/e313?rss=1 2008-07-01 info:doi/10.1542/neo.9-7-e313 American Academy of Pediatrics 7 9 e313 2008-07-01 e313 Visual Diagnosis