Search

Objective: The aim of the study was to examine the prevalence of birth defects among children born to Gulf War veterans. Methods: Seven hundred eighty-eight singleton children born after the war to 522 veterans (262 Gulf War-deployed. DV; 260 non-deployed, NDV) underwent physical examinations focusing on major and minor birth defects and other findings. Results: We found no differences between children of DV and NDV in the prevalence of major birth defects or other findings. However, children of DV women were more likely to have minor birth defects compared with children of NDV women (DV 22% NDV 4.8%, odds ratio: 5.47, confidence interval: 2.06, 14.55), mainly due to increased incidence of minor eye and musculoskeletal birth defects. Conclusions: Our data show that deployment of women to the Persian Gulf arena was associated with increased risk of minor birth defects in their offspring. [ABSTRACT FROM AUTHOR]

Horses are a precocious species that must accomplish several milestones that are critical to survival in the immediate post-birth period for their survival. One essential milestone is the successful transition from the intrauterine unconsciousness to an extrauterine state of consciousness or awareness. This transition involves a complex withdrawal of consciousness inhibitors and an increase in neuroactivating factors that support awareness. This process involves neuroactive hormones as well as inputs related to factors such as cold, visual, olfactory, and auditory stimuli. One factor not previously considered in this birth transition is a yet unreported direct neural reflex response to labor-induced physical compression of the fetus in the birth canal (squeezing). Neonatal maladjustment syndrome (NMS) is a disorder of the newborn foal characterized by altered behavior, low affinity for the mare, poor awareness of the environment, failure to bond to the mother, abnormal sucking, and other neurologically-based abnormalities. This syndrome has been associated with altered events during birth, and was believed to be caused exclusively by hypoxia and ischemia. However, recent findings revealed an association of the NMS syndrome with the persistence of high concentrations of in utero neuromodulating hormones (neurosteroids) in the postnatal period. Anecdotal evidence demonstrated that a novel physical compression (squeeze) method that applies 20 min of sustained pressure to the thorax of some neonatal foals with this syndrome might rapidly hasten recovery. This survey provides information about outcomes and time frames to recovery comparing neonatal foals that were given this squeeze treatment to foals treated with routine medical therapy alone. Results revealed that the squeeze procedure, when applied for 20 min, resulted in a faster full recovery of some foals diagnosed with NMS. The adjunctive use of a non-invasive squeeze method may improve animal welfare by hastening recovery and foal-mare interactions that minimize health problems. This would also avoid or reduce costs arising from hospitalization associated with veterinary and nursing care that sometimes leads owners to elect for euthanasia. [ABSTRACT FROM AUTHOR]

Objective: Prematurity and other risk factors are associated with the development of intraventricular haemorrhage (IVH) in newborns with respiratory distress syndrome (RDS). Conversely, further analysis can determine what characteristics might be associated with a decreased risk of IVH.Study Design: By using International Classification of Diseases, Ninth Revision, Clinical Modification codes from data obtained from the Nationwide Inpatient Sample of the Healthcare Cost and Utilization Project from 2000 to 2009, we identified a large number of cases of RDS. Multivariable logistic regression analysis identified potential variables associated with decreased risk of IVH.Result: Our cohort included 194 621 neonates with RDS, of whom 20 386 (10.5%) developed IVH. Variables associated with decreased risk of both all grades of IVH and severe IVH only included infant of diabetic mother (IDM) status (OR 0.62 (0.54 to 0.70), p<0.001; OR 0.56 (0.42 to 0.74), p<0.001), Trisomy 21 (OR 0.45 (0.30 to 0.69), p<0.001; OR 0.38 (0.16 to 0.93), p=0.034), maternal hypertension (OR 0.62 (0.53 to 0.72), p<0.001; OR 0.28 (0.18 to 0.43), p<0.001), caesarean birth (OR 0.79 (0.74 to 0.84), p<0.001; OR 0.83 (0.73 to 0.94), p<0.001) and, consistent with prior studies, female gender (OR 0.85 (0.82 to 0.88), p<0.001; OR 0.76 (0.72 to 0.80), p<0.001). Polycythaemia (OR 0.67 (0.49 to 0.92), p=0.013; OR 0.79 (0.43 to 1.45), p=0.449) and hypothermia (OR 0.86 (0.75 to 0.99), p=0.039; OR 1.01 (0.81 to 1.28), p=0.903) were associated with lower risk of all IVH but not severe IVH only.Conclusions: Previous associations with IVH such as lower birth weight were confirmed. However, infants in whom new variables such as IDM status were present were less likely to develop all IVH grades. Further analysis of these potential protective variables is necessary to better understand the pathophysiology of IVH. [ABSTRACT FROM AUTHOR]

The article focuses on challenges to newborn screening programs, a public health program and legislation and governmental policies regulating these programs in the U.S. Topics discussed include parental informed consent required in the newborn screening program, the history of genetic testing as well as newborn screening programs, and various aspects of newborn screenings. It also mentions disadvantages related to newborn screening programs.

Abstract: Background: Very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is diagnosed in the US through newborn screening (NBS). NBS often unequivocally identifies affected individuals, but a growing number of variant patterns can represent mild disease or heterozygous carriers. Aims: To evaluate the validity of standard diagnostic procedures for VLCADD by using functional in vitro tools. Methods: We retrospectively investigated 13 patient samples referred to our laboratory because of a suspicion of VLCADD but with some uncertainty to the diagnosis. All 13 patients were suspected of having VLCADD either because of abnormal NBS or suggestive clinical findings. ACADVL genomic DNA sequencing data were available for twelve of them. Ten of the patients had an abnormal NBS suggestive of VLCADD, with three samples showing equivocal results. Three exhibited suggestive clinical findings and blood acylcarnitine profile (two of them had a normal NBS and the third one was unscreened). Assay of VLCAD activity and immunoblotting or immunohistologic staining for VLCAD were performed on fibroblasts. Prokaryotic mutagenesis and expression studies were performed for nine uncharacterized ACADVL missense mutations. Results: VLCAD activity was abnormal in fibroblast cells from 9 patients (8 identified through abnormal NBS, 1 through clinical symptoms). For these 9 patients, immunoblotting/staining showed the variable presence of VLCAD; all but one had two mutated alleles. Two patients with equivocal NBS results (and a heterozygous genotype) and the two patients with normal NBS exhibited normal VLCAD activity and normal VLCAD protein on immunoblotting/staining thus ruling out VLCAD deficiency. Nine pathogenic missense mutations were characterized with prokaryotic expression studies and showed a decrease in enzyme activity and variable stability of VLCAD antigen. Conclusions: These results emphasize the importance of functional investigation of abnormal NBS or clinical testing suggestive but not diagnostic of VLCADD. A larger prospective study is necessary to better define the clinical and metabolic ramifications of the defects identified in such patients. [Copyright &y& Elsevier]

Newborn screening (NBS) is a public health program aimed at identifying treatable conditions in presymptomatic newborns to avoid premature mortality, morbidity, and disabilities. Currently, every newborn in the Unites States is screened for at least 29 conditions where evidence suggests that early detection is possible and beneficial. With new or improved treatment options and development of high-throughput screening tests, additional conditions have been proposed for inclusion into NBS programs. Among those are several conditions with a strong neuronopathic component. Some of these conditions have already been added to a few national and international screening programs, whereas others are undergoing pilot studies to determine the test performance metrics. Here, we review the current state of NBS for 13 lysosomal storage disorders, X-adrenoleukodystrophy, Wilson disease, and Friedreich ataxia. © 2013 Wiley Periodicals, Inc. Dev Disabil Res Rev 2013;17:247-253. [ABSTRACT FROM AUTHOR]

A workshop to evaluate the reported increasing trend in the incidence rate of primary congenital hypothyroidism (CH) identified by newborn screening was held February 27 and 28, 2008, in Atlanta, Georgia, and was sponsored by the Centers for Disease Control and Prevention, the Health Resources and Services Administration, and the National Newborn Screening and Genetics Resource Center. Through a series of presentations and discussions, this group of experts considered a variety of factors that could be contributing to the perceived increasing trend of the CH-incidence rate, the gaps in knowledge that need to be overcome to identify the causes of the observed trend, and possible future research activities that might resolve the uncertainties surrounding the increasing incidence rate of CH in the United States. On the basis of these discussions, workshop participants concluded that the initial focus of future efforts should beta determine if the increasing CH-incidence rate persists once there is standardization of the diagnostic criteria for the classification of CH versus transient hypothyroidism. In discussions, workshop participants suggested that if the increasing incidence rate of CH could not be explained by definitional issues, then future research could focus on the identification and evaluation of risk factors for CH that might be changing among the US population and, thus, contributing to the observed increasing incidence rate of CH. [ABSTRACT FROM AUTHOR]

The reported incidence rate of primary congenital hypothyroidism (CH) has been increasing in the United States over the past 2 decades. We have considered the possibility that the inclusion of cases of transient hypothyroidism has inflated the reported incidence rate of CH. Assessing the effects of cases of transient hypothyroidism on the incidence rate is problematic, because the definitions, diagnostic criteria, and differentiation from transient hyperthyrotropinemia vary widely among state newborn screening programs. Among the 4 etiologies for transient hypothyroidism (maternal thyrotropin receptor-blocking antibodies, exposure to maternal antithyroid medications, iodine deficiency, and iodine excess), there is little evidence of increases in the incidence rate from thyrotropin receptor-blocking antibodies. Exposure to antithyroid drugs could contribute significantly to the incidence rate of transient CH, given the high estimated incidence of active maternal hyperthyroidism. Iodine deficiency or excess in the United States seems unlikely to have contributed significantly to the incidence rate of CH, because the secular trend toward lower iodine intake among women of reproductive age in the 1980s and 1990s seems to have plateaued, and perinatal iodine exposure has presumably declined as a result of recommendations to discontinue using iodine-containing disinfectants. Although the female-to-male sex ratio among newborns with thyroid agenesis or dysgenesis (the most common causes of CH) is typically 2:1, analysis of the sex ratio of newborns diagnosed with presumed CH in the United States suggests that a substantial proportion might have transient hypothyroidism or hyperthyrotropinemia, because the sex ratio has been well below the expected 2:1 ratio. Combined ultrasonography and 1231 scintigraphy of the thyroid gland are effective tools for identifying cases of thyroid agenesis and dysgenesis and can help to differentiate cases of transient hypothyroidism from true CH. Imaging is also a vital component in evaluating children who, at 3 years of age, undergo a trial of discontinuation of levothyroxine treatment to test for persistence of hypothyroidism. Ultimately, thyroid gland imaging, in conjunction with longterm follow-up studies that appropriately assess and report whether there was permanence of hypothyroidism, will be necessary to address the true incidence rate of CH and any contribution to the observed rate by transient cases of hypothyroidism or hyperthyrotropinemia. [ABSTRACT FROM AUTHOR]

The article offers information on a study which investigated the diagnostic accuracy of dried blood spots (DBS) real-time polymerase chain reaction (PCR) assays for newborn congenital cytomegalovirus (CMV) screening. The researchers tested the saliva specimens collected from infants born at seven U.S. medical centers between March 2007 and May 2008 using rapid culture for early antigen fluorescent foci. Main outcome measures included sensitivity, specificity and positive and negative likelihood ratios of single-primer and 2-primer DBS real-time PCR assays. Presented in details are the research findings.

Honduran infant mortality (20/1000) has fallen below the Latin American newborn screening target rate (<30/1000). The authors report 2 Honduran maple syrup urine disease cases and a newborn screening pilot study. The first infant, diagnosed by plasma/urine testing in the U.S., prompted this study. Although marked clinical/radiological improvement occurred after treatment, moderate neurodevelopmental delays persist at 5 years. This 1-month, prospective study used blood spot specimens from hospitalized term Honduran neonates shipped overnight to South Carolina for routine newborn screening with electronic result submission to Honduras for follow-up. Of 88 consecutive neonates (mean age: 4.2 days, standard deviation: 4.2 days) tested, 24 (0.6%) of 3837 completed tests were positive. Another infant with maple syrup urine disease, diagnosed after study completion by blood spot testing, later died. The study findings indicate that collaborative blood spot testing aids in the diagnosis of Honduran metabolic-genetic disease. Newborn screening is now needed to diagnose and treat these diseases before morbidity/mortality develops. [ABSTRACT FROM AUTHOR]

The authors reflect on the U.S. Preventive Services Task Force's recommendations on lipid screening in children and adolescents, and it mentions the claim that clinicians, who already test all newborns for phenylketonuria, should perform screening to detect familial hypercholesterolemia (FH) and pediatric lipid disorders in newborns. Screening for multifactorial dyslipidemia is examined, along with other lipid disorders such as combined dyslipidemia of obesity.

Universal newborn screening programs for metabolic disorders are typically described as a triumph of medicine and public policy in the US over the last 50 years. Advances in science and technology, including the Human Genome Project, offer the opportunity to expand universal newborn screening programs to include many additional metabolic and genetic conditions. Although the benefits of such screening programs appear to outweigh their costs, some critics have claimed that historical examples of inadvertent harm ensuing from false-positive screening results and subsequent inappropriate medical treatment should make us wary of expanding universal newborn screening. In this essay, we report the results of a review of the published literature to assess whether the extension of screening from at risk populations to all newborns led to substantial morbidity and mortality from misguided medical treatment. We provide a historical overview of universal newborn screening programs in the United States, and then focus on six early NBS programs: congenital hypothyroidism, phenylketonuria, congenital adrenal hyperplasia, galactosemia, sickle cell disease, and maple syrup urine disease. Our comprehensive search of published sources did not reveal a widespread problem of harm ensuing from medical treatment of children with false positive screening test results. © 2006 Wiley-Liss, Inc. MRDD Research Reviews 2006;12:262–269. [ABSTRACT FROM AUTHOR]

Newborn screening has existed as a state-based public health service since the early 1960s. Every state and most territorial jurisdictions have comprehensive newborn screening programs in place, but in the United States a national newborn screening policy does not exist. This results in different administrative infrastructures, screening requirements, laboratory and follow-up services, medical management approaches, and related activities across the country. Federal initiatives and support have contributed to limited evaluations of various aspects of individual newborn screening programs at the national level, but funding is an issue. The national evaluation strategies have taken various forms, all with the intent of improving the screening system through review of actions taken and suggestions for future improvements. While participation in the national evaluation effort for newborn screening laboratory practices includes all US programs, and this has aided in improving quality and harmonizing protocols, other national evaluation activities have been only moderately successful. National data reporting of quality indicators for various program elements must be comprehensive and timely, and the elements must be universally accepted in order to meet the evaluation and improvement needs of the national newborn screening system. A comprehensive real time national evaluation activity will likely require additional resources and enforcement incentives. Limited federal actions through grant incentives and selected reporting requirements provide a possible means of stimulating programs to participate in national harmonization efforts. © 2006 Wiley-Liss, Inc. MRDD Research Reviews 2006;12:236–245. [ABSTRACT FROM AUTHOR]

Compares neonatal outcome of vaginal and elective cesarean delivery in fetus with isolated ventral wall defect in the United States. Characteristics of infants with a diagnosis of omphalocele; Use of high-resolution ultrasonography to diagnose ventral wall defects; Evidence of an isolated ventral wall defect in fetus with antennal diagnosis.

Presents newborn screening factsheets developed by the Committee on Genetics of the American Academy of Pediatricians. Include screening for biotinidase deficiency, congenital adrenal hyperplasia, congenital hypothyroidism, cystic fibrosis, galactosemia, homocystinuria, phenylketonuria, toxoplasmosis and others.

Deals with an early diagnosis of sickle cell disease in newborn infants in New York City. Why sickle cell screening at birth can minimize the impact of the disease in the infants and their families; Screening of newborns for sickle cell anemia; Services provided by the New York City Health Department for a newborn screening follow-up program in 1978.

The article discusses the development of newborn screening (NBS) from 1964 to 2014 from the public health, health care provider, and family perspectives. Topics discussed include the creation of the Advisory Committee on Heritable Disorders and Children (ACHDNC) to provide guidance on the practice of NBS in the U.S., opportunities for pediatricians and primary health care providers to participate and improve NBS, and the future of NBS.

The article discusses issues regarding the practice of universal newborn screening (NBS) in the U.S., and the case of NBS for histidinemia, a disorder of amino acid metabolism which was considered to be associated with intellectual disability. It discusses several oppositions to mandatory NBS programs such as the challenges they faced in terms of ethical issues particularly in NBS for phenylketonuria. It examines the history of NBS for histidinemia such as the screening of about 3.5 million children from 1970s to 1990s in Massachusetts and New York, and the impact of the practice to these children and their families. It states that NBS for histidinemia in the nation provided several lessons such as the claim that NBS programs can be influenced and became biased.

In this article the author discusses a study by Maisels and colleagues on an update of the 2004 American Academy of Pediatrics (AAP) guideline for management of hyperbilirubinemia in newborn infants. He cites that the study suggests a universal predischarge bilirubin screening but U.S. Preventive Services Task Force (USPSTF) concludes that it lacks evidence to make the recommendations. The author believes that screening is a good idea but has insufficient evidence to be part of AAP guideline.

The article focuses on the extensive metabolic screening given to newborn babies, in relation to an article by van Maldegem and colleagues in the August 23, 2006 issue of the "Journal of the American Medical Association" concerning 31 Dutch patients who had short chain acyl-coenzyme A dehydrogenase (SCAD) deficiency. The benefits of early diagnosis of SCAD conditions is weighed against the cost of false positives, which can alter parent-child relationships and cause undue stress on new parents.

Reports the implication of technology developed to identify metabolic disorder to expansion of newborn screening program in the United States. Arguments of the public health experts on the burden of the screening technology; Significance of tandem mass spec machines; Forecast for the penetration of tandem mass spec into public screening program.

The author comments on a study published within the issue which described efforts to validate universal screening methods for congenital cytomegalovirus (CMV) infection in newborns in the U.S. A brief information on the epidemiology of congenital CMV is offered. The author highlights the public health benefits of universal newborn screening. The author also explains that the study addressed the issue of the availability of a highly sensitive and specific screening method.

The article presents the recommendation of the U.S. Preventive Services Task Force (USPSTF) on screening for phenylketonuria (PKU) in newborn infants. It suggests the use of fluorometry and tandem mass spectrometry for PKU screening due to high sensitivity and specificity. Some of the factors to consider in PKU detection are patient population, types of screening tests, treatment and screening timing. USPSTF adds that early screening benefits outweigh complications.

The article offers information on the expansion of newborn screening in pursuit of the reproductive benefits in the U.S., Denmark, and Canada. Reproductive benefit has been considered secondary to identifying treatable condition in newborn screening within the consent or mandatory systems to receive information. Moreover, the author argues that pursuing health benefit through newborn screening program is not appropriate and may be best achieved through traditional antenatal screening programs.

Reports on the incidence of kernicterus in full-term infants from 1994 to 1998 in the United States. Prevention of kernicterus; Symptoms of hyperbilirubinemia including jaundice, lethargy, and poor feeding; Symptoms of kernicterus including choreoathetoid cerebral palsy, mental retardation, sensorineural hearing loss, and gaze paresis; Specific case reports; Major risk factors. INSET: Major Risk Factors for Hyperbilirubinemia in Full-Term Newborns.

The article discusses the importance of newborn screening which celebrates its 50th anniversary in 2013. According to estimates, roughly 4 million infants born each year in the U.S. undergo newborn screening for the early identification of genetic disorders. Research done on Phenylketonuria (PKU) is cited as the beginning of the recognition of the importance of newborn screening.

The article reports on legislation passed by the U.S. Congress to institute national newborn screening guidelines. The Newborn Screening Lives Act of 2007 will increase and standardize the use of comprehensive newborn screening that is widely available throughout the U.S. The bill also intends for the U.S. Centers for Disease Control and Prevention to create a system for collecting and analyzing data to develop better disease detection, prevention, and treatment strategies for newborn infants.

Focuses on the bill introduced by New York State Assemblywoman Nettie Mayersohn requiring the screening of newborns for the AIDS virus. Move to avoid the transmission of the virus.

Reports on the legislation which calls for mandatory HIV testing of newborns in the United States.

Focuses on a study published in a 1997 issue of `New England Journal of Medicine,' on the benefits of neonatal screening for cystic fibrosis in the United States. Background on the study; Early diagnosis of cystic fibrosis among newborns; Lessons for British health care specialists; Areas in Great Britain where neonatal screening for cystic fibrosis are carried out.

Notes that the United States Congress has passed legislation requiring states to implement mandatory HIV testing for newborns if they cannot use other means to reduce perinatal AIDS cases. The requirements as part of the Ryan White AIDS Care Act; The view that pregnant women, rather than children, should be tested, since treatment can prevent transmission in utero; How the legislation, which the President is expected to sign, will be implemented.