Abstract:
:Congenital heart defects (CHDs) are structural abnormalities of the heart and great vessels that are present from birth. The presence or absence of extracardiac anomalies has historically been used to identify patients with possible monogenic, chromosomal, or teratogenic CHD causes. These distinctions remain clinically relevant, but it is increasingly clear that nonsyndromic CHDs can also be genetic. This article discusses key morphologic, molecular, and signaling mechanisms relevant to heart development, summarizes overall progress in molecular genetic analyses of CHDs, and provides current recommendations for clinical application of genetic testing.
journal_name
Clin Perinatoljournal_title
Clinics in perinatologyauthors
Cowan JR,Ware SMdoi
10.1016/j.clp.2015.02.009subject
Has Abstractpub_date
2015-06-01 00:00:00pages
373-93, ixissue
2eissn
0095-5108issn
1557-9840pii
S0095-5108(15)00026-3journal_volume
42pub_type
杂志文章,评审abstract::This article describes the early history of the "boarder baby" phenomenon through the late 1980s and early 1990s. The characteristics of the recent "boarder baby" population and of the problem are described with particular emphasis on the role of alcohol and drug abuse and the historical lack of coordination between h...
journal_title:Clinics in perinatology
pub_type: 杂志文章
doi:
更新日期:1999-03-01 00:00:00
abstract::This chapter describes the utility of event-related potential recordings in the assessment of auditory and visual system integrity in the newborn infant. A battery of electrophysiologic tests is described that permits the evaluation of sequential levels of processing within these sensory system. ...
journal_title:Clinics in perinatology
pub_type: 杂志文章
doi:
更新日期:1985-02-01 00:00:00
abstract::Neutropenia is a relatively common problem in the NICU, recognized in as many as 8% of patients at some time during their hospital stay. In most instances, neutropenia among NICU patients is of short duration and has little influence on outcome. In other cases it is prolonged and severe, and constitutes a serious anti...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:10.1016/s0095-5108(05)70040-3
更新日期:2000-09-01 00:00:00
abstract::Preterm birth is a major complication of pregnancy and remains a leading cause of neonatal morbidity and mortality worldwide. Improvements in the authors' understanding of the pathophysiology of preterm labor have led to the development of novel diagnostic tools of use to identify women at greatest risk for preterm bi...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:10.1016/s0095-5108(03)00109-x
更新日期:2003-12-01 00:00:00
abstract::Most allegations in obstetric lawsuits against obstetrician-gynecologists relate in some manner to the management of labor and delivery; few solely involve perceived flaws in prenatal or postpartum care. Although many of these cases accuse the defendant of not having properly monitored the fetus during labor for signs...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:10.1016/j.clp.2007.03.011
更新日期:2007-06-01 00:00:00
abstract::The treatment of cocaine abuse among pregnant women involves attention not only to the cocaine use, but also to the pregnancy and constellation of medical and social problems substance-abusing women experience. Writing about the needs of women who enter treatment for drug-dependence treatment, Reed has offered suggest...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:
更新日期:1993-03-01 00:00:00
abstract::HFV is a mode of therapy that allows gas exchange with pressure fluctuations much lower than that required for conventional ventilation, and may consequently decrease the incidence of barotrauma and chronic lung disease. At present the National Institute of Health is sponsoring the first large controlled trial to test...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:
更新日期:1987-09-01 00:00:00
abstract::The final common pathway to death in all of us is an arrhythmia, yet we still know far too little about the contribution of conduction abnormalities and arrhythmias to the compromised states of the human fetus. At no other time in the human life cycle is the human being at more risk of unexplained and unexpected death...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:10.1016/j.clp.2007.10.002
更新日期:2007-12-01 00:00:00
abstract::The risk of mother-to-child transmission (MTCT) of HIV can be reduced through cesarean delivery prior to the onset of labor and prior to rupture of the membranes (elective cesarean delivery [ECD]). As a result of this evidence, the American College of Obstetricians and Gynecologists and the Department of Health and Hu...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:10.1016/j.clp.2010.08.013
更新日期:2010-12-01 00:00:00
abstract::For more than 100 years, three principles have guided the treatment of neonatal asphyxia: maintain body heat, free air passages of obstructions, and stimulate respiration by supplying air to the lungs for oxygenation of the blood. This article addresses the question of which gas, air or 100% oxygen, is best supplied t...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:10.1016/j.clp.2005.11.003
更新日期:2006-03-01 00:00:00
abstract::In the past, all women with a family history of breast or ovarian cancer were considered to be at increased risk of cancer themselves. The discovery of BRCA1 and BRCA2 demonstrated that susceptibility to breast and ovarian cancer can be inherited by women as a single-gene autosomal dominant disorder. For such women, e...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:10.1016/s0095-5108(05)70091-9
更新日期:2001-06-01 00:00:00
abstract::Several limitations and controversies surround the definition of hypotension; however, it remains one of the most common problems faced by neonates. Approximately 15% to 30% of neonates with hypotension fail to respond to volume and/or vasopressor or inotropes. They are considered to have refractory hypotension. Altho...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:10.1016/j.clp.2020.05.015
更新日期:2020-09-01 00:00:00
abstract::Preterm birth remains a significant health concern. Maternal reproductive infections such as bacterial vaginosis pose increased risk for preterm birth, although treatment of bacterial vaginosis has not proven to be universally effective in preterm birth prevention. Maternal oral infection such as clinical periodontal ...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:10.1016/j.clp.2005.05.002
更新日期:2005-09-01 00:00:00
abstract::Oxygen therapy is an essential part of neonatal care. Targeting oxygen saturations and preventing hypoxemia and hyperoxemia is difficult, particularly in preterm infants. The mode of oxygen delivery directly affects the stability of oxygen saturations, hypoxemia, and hyperoxemia. This stability has important clinical ...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:10.1016/j.clp.2019.05.012
更新日期:2019-09-01 00:00:00
abstract::The lifespan risk of seizures is highest in the neonatal period. Current therapies have limited efficacy. Although the treatment of neonatal seizures has not changed significantly in the last several decades, there has been substantial progress in understanding developmental mechanisms that influence seizure generatio...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:10.1016/j.clp.2009.08.001
更新日期:2009-12-01 00:00:00
abstract::Beta-sympathomimetic agents are used extensively in obstetrics to inhibit premature labor. Knowledge of the pharmacology, mode of action on smooth muscle, and cardiovascular and metabolic side effects of these agents is essential for the obstetrician and perinatologist. This review article draws extensively on recent ...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:
更新日期:1987-12-01 00:00:00
abstract::Familial hypothyroidism results from both thyroidal and extrathyroidal dysfunction. Specific intrathyroidal abnormalities in thyroid hormone synthesis causing goitrous hypothyroidism are iodide trap defect, organification defect, "coupling" defect, iodoprotein defect, and dehalogenase defect. The diagnostic studies fo...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:
更新日期:1976-03-01 00:00:00
abstract::This article summarizes new information on the natural history of maternal varicella and maternal parvovirus B19. Controversies in the therapy of respiratory syncytial virus are presented. Prophylactic and therapeutic immunotherapy of neonatal enteroviral disease are reviewed. ...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:
更新日期:1997-03-01 00:00:00
abstract::Visual evoked potentials (VEPs) are easily recorded in the neonatal intensive care setting using light-emitting diode goggles as the flash stimulus. They are sensitive measures of CNS integrity and are altered or abolished by hypoxia. Prognosis in newborns with birth asphyxia or hypoxia is difficult to predict; howeve...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:
更新日期:1993-06-01 00:00:00
abstract::The enunciation of equipment requirements has been attempted as needs appear today. Detailed and technical specifications for some of this equipment must be understood prior to major acquisitions. An awareness of current trends in clinical research can often be obtained from appropriate consultants which should forest...
journal_title:Clinics in perinatology
pub_type: 杂志文章
doi:
更新日期:1976-09-01 00:00:00
abstract::Retinopathy of Prematurity (ROP) is a leading cause of childhood blindness in the United States. Optical Coherence Tomography (OCT) is a relatively new imaging technology capable of imaging ocular structures in cross section at high resolution. We present an age-customized approach to perform Spectral Domain OCT in ne...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:10.1016/j.clp.2013.02.007
更新日期:2013-06-01 00:00:00
abstract::Nonstress testing appears to be an effective means of identifying fetal condition. Its most definitive benefit is the identification of the "normal" fetus, which often permits a path of nonintervention. A significant benefit of the nonstress test approach is its simplicity and portability which, in a practical sense, ...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:
更新日期:1982-06-01 00:00:00
abstract::Most pharmacokinetic and biologic attributes of digitalis are age dependent. They are determined in great measure by the chemical structure of the specific cardiac glycoside being used. These effects differ in the intact normal circulation and in heart failure because of the altered autonomic nervous system and hormon...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:
更新日期:1988-09-01 00:00:00
abstract::Cardiovascular malformations (CVMs) are the most common birth defect, occurring in 1% to 5% of all live births. Genetic, epigenetic, and environmental factors all influence the development of CVMs, and an improved understanding of the causation of CVMs is a prerequisite for prevention. Cardiac development is a complex...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:10.1016/j.clp.2015.11.002
更新日期:2016-03-01 00:00:00
abstract::Advances in fetal echocardiography are providing highly accurate diagnoses of congenital heart disease prior to delivery, making it possible to plan the delivery-room management of these newborns. Knowledge of the expected transitional circulation occurring with birth and the pathophysiologic implications of congenita...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:10.1016/j.clp.2005.09.014
更新日期:2005-12-01 00:00:00
abstract::Diagnostic and invasive procedures in premature infants may require general anesthesia. General anesthetics interfere with the development of the immature animal brain. Accelerated apoptosis, disturbed synaptogenesis, and cytoarchitecture are among the mechanisms suspected to underlie this phenomenon. The implications...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:10.1016/j.clp.2019.08.002
更新日期:2019-12-01 00:00:00
abstract::The care of extremely premature infants involves a number of complex clinical and ethical issues. The ethical and scientific quality of decisions made in the care of these infants has profound long-term consequences for these infants and their families. In circumstances when it is unclear whether intensive care should...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:10.1016/s0095-5108(03)00028-9
更新日期:2003-06-01 00:00:00
abstract::Immunotherapy was a common method of treating infectious diseases in the preantibiotic era. Serotherapy was a popular approach to serious infections and employed hyperimmune globulins harvested from various large animals. Such antisera needed to be administered early in the course of the disease and unfortunately was ...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:
更新日期:1991-06-01 00:00:00
abstract::Ultrasonography has increasingly become essential in the practice of obstetrics and gynecology. Its antenatal use is well described in the literature and is a continuing subject of study. However, the use of ultrasonography in the labor and delivery suite has not been the subject of many articles. The purpose of this ...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:
更新日期:1996-03-01 00:00:00
abstract::The authors believe that the literature provides sufficient evidence that antenatal corticosteroid administration is beneficial and safe even in conditions of ruptured membranes. The evidence by now is remarkably robust and one can be reasonably confident regarding the benefits of antenatal corticosteroids in the sett...
journal_title:Clinics in perinatology
pub_type: 杂志文章,评审
doi:10.1016/s0095-5108(03)00078-2
更新日期:2001-12-01 00:00:00