Abstract:
:Traditionally, genetic testing has been too slow or perceived to be impractical to initial management of the critically ill neonate. Technological advances have led to the ability to sequence and interpret the entire genome of a neonate in as little as 26 h. As the cost and speed of testing decreases, the utility of whole genome sequencing (WGS) of neonates for acute and latent genetic illness increases. Analyzing the entire genome allows for concomitant evaluation of the currently identified 5588 single gene diseases. When applied to a select population of ill infants in a level IV neonatal intensive care unit, WGS yielded a diagnosis of a causative genetic disease in 57% of patients. These diagnoses may lead to clinical management changes ranging from transition to palliative care for uniformly lethal conditions for alteration or initiation of medical or surgical therapy to improve outcomes in others. Thus, institution of 2-day WGS at time of acute presentation opens the possibility of early implementation of precision medicine. This implementation may create opportunities for early interventional, frequently novel or off-label therapies that may alter disease trajectory in infants with what would otherwise be fatal disease. Widespread deployment of rapid WGS and precision medicine will raise ethical issues pertaining to interpretation of variants of unknown significance, discovery of incidental findings related to adult onset conditions and carrier status, and implementation of medical therapies for which little is known in terms of risks and benefits. Despite these challenges, precision neonatology has significant potential both to decrease infant mortality related to genetic diseases with onset in newborns and to facilitate parental decision making regarding transition to palliative care.
journal_name
Semin Perinatoljournal_title
Seminars in perinatologyauthors
Petrikin JE,Willig LK,Smith LD,Kingsmore SFdoi
10.1053/j.semperi.2015.09.009subject
Has Abstractpub_date
2015-12-01 00:00:00pages
623-31issue
8eissn
0146-0005issn
1558-075Xpii
S0146-0005(15)00131-7journal_volume
39pub_type
杂志文章,评审abstract::Multiple gestation carries a significant risk of perinatal complications and mortality. Often twin neonates are delivered small and early with a perinatal mortality rate five to seven times that of singleton neonates. Increased morbidity and mortality is due to an increased incidence of antepartum complications, monoz...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:
更新日期:1986-01-01 00:00:00
abstract::Up to the immediate past, and perhaps even to the present, a major difference between care of the fetus and of the neonate was the ability to examine directly the physical and biochemical traits of the unborn patient. In a span of time as short as perhaps 10 years it has become progressively possible to institute almo...
journal_title:Seminars in perinatology
pub_type: 杂志文章
doi:
更新日期:1989-08-01 00:00:00
abstract::Intrauterine growth restriction (IUGR), which complicates approximately 3% to 10% of all pregnancies leads to preferential hemodynamic changes in affected fetuses. Advanced ultrasound modalities allow reliable and reproducible assessment of the intrauterine fetal cardiac function. Among other methods, combined cardiac...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1053/j.semperi.2008.02.010
更新日期:2008-06-01 00:00:00
abstract::This article reviews the central role of nutrition in advancing the maternal, newborn, and child health agenda with a focus on evidence for effective interventions generated using randomized controlled trials in low- and middle-income countries (LMIC). The 1000 days spanning from conception to 2 years of life are a cr...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1053/j.semperi.2015.06.009
更新日期:2015-08-01 00:00:00
abstract::Diagnostic errors remain understudied in neonatology. The limited available evidence, however, suggests that diagnostic errors in the neonatal intensive care unit (NICU) result in significant and long-term consequences. In this narrative review, we discuss how the concept of diagnostic errors framed as missed opportun...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1053/j.semperi.2019.08.004
更新日期:2019-12-01 00:00:00
abstract::This review documents and assesses recent trends in sudden infant death syndrome. We review medical literature, Internet resources, and national governmental data. A striking reduction in SIDS incidence of more than 50% has been observed in various countries after interventions, particularly during the early 1990s, to...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1053/sper.2002.34774
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journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1016/s0146-0005(99)80059-7
更新日期:1999-02-01 00:00:00
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journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1053/j.semperi.2006.05.007
更新日期:2006-08-01 00:00:00
abstract::Premature rupture of the membranes (PROM), defined as rupture of the membranes before the onset of labor, is a common obstetric event occurring in 10% of pregnancies. Most of the time this occurs at or beyond 37 weeks' gestation with only 10% of PROM occurring at less than 37 weeks' gestation. The natural course of PR...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1016/s0146-0005(96)80003-6
更新日期:1996-10-01 00:00:00
abstract::Neonatal erythropoiesis is limited by a relatively inadequate production of erythropoietin. This is likely the result of dependence on the hepatic production of erythropoietin and an incomplete switchover to renal production. The present model of neonatal erythropoiesis suggests that the use of exogenous erythropoieti...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1016/s0146-0005(97)80016-x
更新日期:1997-02-01 00:00:00
abstract::Many infants with CDH can be managed with conventional mechanical ventilation and pharmacotherapy. However, some infants will require levels of ventilator support that are not compatible with survival. In these circumstances, extracorporeal membrane oxygenation (ECMO) has been used with varying results. The indication...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1053/j.semperi.2005.04.005
更新日期:2005-04-01 00:00:00
abstract::Early pregnancy loss is the most common complication in pregnancy. Management options for miscarriage include expectant management, medical intervention, or surgical aspiration. Non-surgical and surgical management are all safe and acceptable options for medically uncomplicated patients. Patient and provider preferenc...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1053/j.semperi.2018.12.005
更新日期:2019-03-01 00:00:00
abstract::Nitric oxide (NO) is intimately involved in vascular homeostasis through its antiplatelet, antiproliferative, and vasodilating actions. Because of these beneficial properties, methods of harnessing NO for the prevention of vascular injury responses, such as intimal hyperplasia, are being explored. One such method invo...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1016/s0146-0005(00)80056-7
更新日期:2000-02-01 00:00:00
abstract::Neuroblastoma is the most common malignant neoplasm occurring in the neonate and arguably the most variable in its presentation. This review examines differences in the tumor's clinical course in the context of known biologic determinants of behavior. Tumors that would go undetected except for prenatal ultrasonography...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1016/s0146-0005(99)80035-4
更新日期:1999-08-01 00:00:00
abstract::In experienced hands, cranial ultrasonography (cUS) is an excellent tool to detect the most frequently occurring brain abnormalities in preterm and full-term neonates, to study the evolution of lesions, and to follow brain maturation. It enables screening of the brain and serial imaging in high-risk neonates. However,...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1053/j.semperi.2009.10.002
更新日期:2010-02-01 00:00:00
abstract::The management of conjoined twins is complex and requires careful preparation. Pre-birth management includes prenatal counseling, which is important due to the overall poor prognosis. In instances of trial of life, the delivery must be tailored to address the anticipated anatomy based on prenatal imaging and anticipat...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1053/j.semperi.2018.07.008
更新日期:2018-10-01 00:00:00
abstract::The highly contagious severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has affected every aspect of medical practice and has all but ceased clinical, translational and basic science research. Pregnant women appear to be similarly affected by the virus as non-pregnant adults. As obstetricians, not only do w...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1016/j.semperi.2020.151287
更新日期:2020-11-01 00:00:00
abstract::Perinatal health outcomes in the United States continue to worsen, with the greatest burden of inequity falling on Black birthing communities. Despite transdisciplinary literature citing structural racism as a root cause of inequity, interventions continue to be mostly physician-centered models of perinatal and reprod...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1016/j.semperi.2020.151267
更新日期:2020-08-01 00:00:00
abstract::Accurate assessment of fetal growth status requires the definition of an optimal standard, which represents the growth potential of the baby. Against this standard, individually 'customized' percentiles can be calculated. They improve the distinction between normal and abnormal, and help in our understanding and diagn...
journal_title:Seminars in perinatology
pub_type: 杂志文章
doi:10.1053/j.semperi.2003.12.002
更新日期:2004-02-01 00:00:00
abstract::Nuchal translucency (NT) describes an echo-free area, below the skin, in the posterior nuchal and back region of the fetus and is typically observed in the first and early second trimester of pregnancy. A wide NT has been correlated with chromosomal and congenital abnormalities in the fetus. An accurate NT measurement...
journal_title:Seminars in perinatology
pub_type: 杂志文章
doi:10.1053/j.semperi.2005.12.004
更新日期:2005-12-01 00:00:00
abstract::There is increasing evidence that cardiac dysfunction is a key contributor to CDH pathophysiology. Dysfunction in both right and left ventricles is common in the early neonatal period, contributes to clinical disease severity, and is associated with adverse outcomes including death and ECMO use. Early and routine asse...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1053/j.semperi.2019.07.007
更新日期:2020-02-01 00:00:00
abstract::Given the historically high rates of cesarean delivery in the United States, obstetrical providers must often consider an induction of labor for women with a history of prior cesarean delivery versus repeat cesarean delivery. Clinical evaluation of this scenario involves weighing the benefits of a successful trial of ...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1053/j.semperi.2015.07.011
更新日期:2015-10-01 00:00:00
abstract::In an attempt to prevent preterm birth, clinicians have recommended cerclage for women with shortened cervical length and other worrisome sonographic cervical features in the mid-trimester, although randomized trials have not supported this practice. Emerging data suggest that preterm birth is a complex and poorly und...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1053/j.semperi.2009.06.005
更新日期:2009-10-01 00:00:00
abstract:OBJECTIVE:To describe inpatient management strategies and considerations for pregnant patients with severe acute respiratory syndrome coronavirus 2 infection. FINDINGS:The novel coronavirus has posed challenges to both obstetric patients and the staff caring for them, due to its variable presentation and current limit...
journal_title:Seminars in perinatology
pub_type: 杂志文章
doi:10.1016/j.semperi.2020.151280
更新日期:2020-11-01 00:00:00
abstract::The genetic sonogram is a composite algorithm combining multiple individual markers to increase Down syndrome risk prediction. Transformation of sonographic information into a standard mathematical format represented an early challenge that has now been surmounted. Using increasingly sophisticated mathematical techniq...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1053/j.semperi.2005.06.005
更新日期:2005-08-01 00:00:00
abstract::Inhalation of nitric oxide (NO) is an experimental treatment for severe pulmonary hypertension. Being rapidly metabolized by hemoglobin, inhaled NO causes selective vasodilation in the pulmonary vascular bed. In addition to the vascular smooth muscle, other pulmonary structures are exposed to inhaled NO, resulting in ...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1016/s0146-0005(96)80046-2
更新日期:1996-06-01 00:00:00
abstract::The use of broad spectrum antimicrobials, the emergence of multiresistant organisms, and the hospital drug costs associated with antimicrobials have all driven the need for institutions to develop strategies to control the use of antimicrobials. Formulary restrictions, prior approval mechanisms, treatment guidelines, ...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1053/sper.2002.36271
更新日期:2002-10-01 00:00:00
abstract::Preterm births account for a substantial portion of infant mortality, the major difference in mortality between African-American and white births in the United States, and the key reason that US infant mortality exceeds that of other developed nations. Although preterm birth rates are higher in the African-American co...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1016/s0146-0005(05)80039-4
更新日期:1995-08-01 00:00:00
abstract::Newborn screening describes various tests that can occur during the first few hours or days of a newborn's life and have the potential for preventing severe health problems, including death. Newborn screening has evolved from a simple blood or urine screening test to a more comprehensive and complex screening system c...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1053/j.semperi.2015.03.002
更新日期:2015-04-01 00:00:00
abstract::Despite major advances in neonatal care, the burden of preterm birth remains high. This is not unexpected since strategies to identify and treat risk factors in early pregnancy have not been very effective in reducing the preterm birth rate. Initial studies suggested a potential benefit for 17-alpha-hydroxyprogesteron...
journal_title:Seminars in perinatology
pub_type: 杂志文章,评审
doi:10.1053/j.semperi.2016.03.002
更新日期:2016-08-01 00:00:00