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Biomedical subjects

Nancy S Green

Publications and source records attributed to Nancy S Green.

At least 19 recordsLinked to original sources
PubMed2006

Newborn screening: complexities in universal genetic testing.

Newborn screening (NBS)--in which each newborn infant is screened for up to 50 specific metabolic disorders for early detection and intervention--is the first program of populationwide genetic testing. As a public health intervention, NBS has greatly improved the lives of thousands of affected children. New technologies and new economic and social forces pose significant ethical and clinical challenges to NBS. Two primary challenges concern (1) accommodating clinical and ethical standards to rapid technological developments in NBS and (2) preparing public health systems to respond to the medical advances and social forces driving expansion of NBS programs. We describe and analyze these challenges through consideration of 3 disorders: phenylketonuria, medium-chain acyl-CoA dehydrogenase deficiency, and cystic fibrosis.

Acyl-CoA Dehydrogenase↗
PubMed2006

Pilot programs in newborn screening.

The term "pilot study" has been used over the years to describe the evaluation of the many elements involved in deciding whether a proposed condition should be added to a newborn screening (NBS) panel, and until recently, was unilaterally used to describe the evaluation of the assay to be used before the condition was officially adopted by a state for its newborn screening panel. Since Guthrie's introduction of screening for PKU, each time a new condition was added to the panel, the screening assay itself was validated through a population-based trial, in which the test was performed with de-identified samples to avoid association between the test result and the infant. This is considered by the laboratory as the "pilot phase" of adding a new condition. To advance the science of NBS, especially to accommodate new technologies that may provide new types of information (genetic versus physiological) for each new condition, pilot programs are essential. Involvement of the clinical community serves to improve these evaluations and provides the needed clinical validation of decisions made as a result of it. This paper describes the historical context of pilot programs in population-based NBS that utilize laboratory-based markers as indicators of concern; specifically, three applications that demonstrate different approaches to the use of pilots in adding conditions to a NBS panel are described.

Diffusion of Innovation↗
PubMed2006

Critical role of the March of Dimes in the expansion of newborn screening.

Expansion of newborn screening (NBS) has been driven primarily by a combination of advances in technology and medical treatment, and the sustained advocacy efforts of consumers and voluntary health organizations. The longstanding leadership of the March of Dimes has been credited by many as a critical factor in the expansion and improvement of state NBS programs. From the historic vantage point of four decades of March of Dimes involvement with newborn screening, this report reviews the unique origin of the first newborn screening test, and identifies from this point of origin several of the elements which still define the evolution of advocacy for NBS today. It also documents activities at the federal level and in seven states that have lead to expanded screening for newborns. Advances in NBS technology and medical treatment have informed policy development. Mobilization of volunteers and focused advocacy activities have brought about expansion of screening opportunities for newborns across the United States. But more work is needed. Continued application of the effective strategies identified in this report will help assure that all families have the best possible chance of assuring that their newborns do not have to suffer the complications of conditions that we know can be treated effectively.

Financing, Government↗
PubMed2006

Changes in the gestational age distribution among U.S. singleton births: impact on rates of late preterm birth, 1992 to 2002.

There is mounting evidence that infants born late preterm (34-36 weeks) are at greater risk for morbidity than term infants. This article examines the changing epidemiology of gestational length among singleton births in the United States, from 1992 to 2002. Analyzing gestational age by mode of delivery, the distribution of spontaneous births shifted to the left, with 39 weeks becoming the most common length of gestation in 2002, compared with 40 weeks in 1992 (P < 0.001). Deliveries at > or =40 weeks gestation markedly decreased, accompanied by an increase in those at 34 to 39 weeks (P < 0.001). Singleton births with PROM or medical interventions had similar trends. Changes in the distribution of all singleton births differed by race/ethnicity, with non-Hispanic white infants having the largest increase in late preterm births. These observations, in addition to emerging evidence of increased morbidity, suggest the need for investigation of optimal obstetric and neonatal management of these late preterm infants.

Birth Rate↗
PubMed2005

Research agenda for preterm birth: recommendations from the March of Dimes.

Preterm birth (PTB) is a common, serious, and costly health problem affecting nearly 1 in 8 births in the United States. Burdens from PTB are especially severe for the very preterm infant (<32 weeks' gestation), comprising 2% of all US births. Successful prevention needs to include newly focused and adequately funded research, incorporating new technologies and recognition that genetic, environmental, social, and behavioral factors interact in complex pathogeneses and multiple pathways leading to PTB. The March of Dimes Scientific Advisory Committee created this prioritized research agenda, which is aimed at garnering serious attention and expanding resources to make major inroads into the prevention of PTB, targeting six major, overlapping categories: epidemiology, genetics, disparities, inflammation, biologic stress, and clinical trials. Analogous to other common, complex disorders, progress in prevention will require incorporating multipronged risk reduction strategies that are based on sound scientific discovery, as well as on effective translation into clinical care.

Charities↗
PubMed2005

Neonatal screening by DNA microarray: spots and chips.

Newborn screening (NBS) is a public-health genetic screening programme aimed at early detection and treatment of pre-symptomatic children affected by specific disorders. It currently involves protein-based assays and PCR to confirm abnormal results. We propose that DNA microarray technology might be an improvement over protein assays in the first stage of NBS. This approach has important advantages, such as multiplex analysis, but also has disadvantages, which include a high initial cost and the analysis/storage of large data sets. Determining the optimal technology for NBS will require that technical, public health and ethical considerations are made for the collection and extent of analysis of paediatric genomic data, for privacy and for parental consent.

Genetic Testing↗
PubMed2005

Estimated effect of 17 alpha-hydroxyprogesterone caproate on preterm birth in the United States.

OBJECTIVE: A multicenter, randomized placebo-controlled trial among women with singleton pregnancies and a history of spontaneous preterm birth found that weekly injections of 17 alpha-hydroxyprogesterone caproate (17P), initiated between 16 and 20 weeks of gestation, reduced preterm birth by 33%. The current study estimated both preterm birth recurrence and the potential reduction in the national preterm birth rate. METHODS: Using 2002 national birth certificate data, augmented by vital statistics from 2 states, we estimated the number of singleton births delivered to women eligible for 17P through both a history of spontaneous preterm birth and prenatal care onset within the first 4 months of pregnancy. The number and rate of recurrent spontaneous preterm births were estimated. To predict effect, the reported 33% reduction in spontaneous preterm birth attributed to 17P therapy was applied to these estimates. RESULTS: In 2002, approximately 30,000 recurrent preterm births occurred to women eligible for 17P, having had a recurrent preterm birth rate of 22.5%. If 17P therapy were delivered to these women, nearly 10,000 spontaneous preterm births would have been prevented, thereby reducing the overall United States preterm birth rate by approximately 2%, from 12.1% to 11.8% (P < .001), with higher reductions in targeted groups of eligible pregnant women. CONCLUSION: Use of 17P could reduce preterm birth among eligible women, but would likely have a modest effect on the national preterm birth rate. Additional research is urgently needed to identify other populations who might benefit from 17P, evaluate new methods for early detection of women at risk, and develop additional prevention strategies. LEVEL OF EVIDENCE: III.

17 alpha-Hydroxyprogesterone Caproate↗
PubMed2005

Attitudes about genetics in underserved, culturally diverse populations.

OBJECTIVE: New medical discoveries regarding genetic susceptibility to common chronic diseases, and the decoding of the human genome have increased public attention to genetics. What information is understood and what attitudes exist towards genetics and genetic research have not been well examined in underserved, culturally diverse communities. METHODS: To better understand attitudes and beliefs towards genetics and genetic testing in these groups, we conducted eight focus groups with 55 patients and health care workers in New York City and Westchester, N.Y., in English, Spanish, and Chinese. RESULTS: Focus group participants had limited understanding about genetics or genetic testing. Newborn screening was the least-known genetic issue, even among health care workers. Regardless of their cultural group, most participants expressed a desire for more information about genetics and genetic tests. Latinos and Chinese participants generally expressed positive attitudes towards genetic studies and genetic testing, with the possibility of preventing diseases cited as the main advantage. Black Americans and Non-Hispanic Whites reported mixed feelings about genetic research and genetic testing. Concerns expressed included: anxiety before receiving test results or waiting for a disease to develop, fear of genetic discrimination by health and life insurance companies and employers, not having the financial means to deal with genetic diseases in themselves or a sick child, concern that children and adults are having too many tests. Black Americans expressed the most concern for possibly harmful use of genetic information. CONCLUSIONS: Minority populations of diverse cultures have limited knowledge about genetics and genetic testing, would like to have more information, and are not well reached by the current educational approaches. Participants knew the least about newborn screening, a test that is mandatory in the New York State. While genetic knowledge by minority populations was perhaps not different from the level of knowledge of consumers in general, minority populations are at particular risk of being left behind because of historically poor access to information and services.

Adult↗
PubMed2003

Public perceptions about prematurity: a national survey.

BACKGROUND: More than 460,000 preterm babies are born annually in the United States, with rates varying depending on the mother's race/ethnicity. Preliminary evidence suggests that the general public may have a lack of knowledge and misconceptions about preterm birth. METHODS: A national telephone survey of U.S. adults, over-sampling for black and Hispanic women, was conducted in 2002 to assess people's knowledge, attitudes, and beliefs related to preterm birth (N=1967). Analyses included racial/ethnic differences among women's responses and comparisons to men's responses. RESULTS: Prematurity was named by <1% of women as the most important issue facing pregnant women and infants. Overall, 34% of women and 31% of men felt that prematurity is a common problem in the United States, and 38% of women and 25% of men believed prematurity to be a serious problem in the United States. More black and Hispanic women considered prematurity to be common and serious. A majority of women (65%) and men (59%) attributed preterm births to risky prenatal maternal behaviors. CONCLUSIONS: Although nearly one in eight babies is born prematurely, most U.S. adults do not consider prematurity to be a serious public health problem. While the etiology can be identified in only half of spontaneous preterm births, the public largely blames the mother's prenatal behavior. Misperceptions are prevalent and may impede future research and prevention efforts if not corrected.

Adult↗
PubMed2002

Folic acid supplementation and prevention of birth defects.

Based on animal studies, epidemiologic studies and intervention trials, maternal folic acid is known to be protective for neural tube defects (NTD), primarily spina bifida and anencephalus. To reduce the risk of NTD, the U.S. Food and Drug Administration mandated that all enriched cereal grain products be fortified with folic acid as of January 1998. Recent data demonstrate that this public health action is associated with increased folate blood levels among U.S. women of childbearing age and that the national rate of spina bifida has decreased by 20%. Rates of anencephaly appear not to have declined. Epidemiologic data on use of folate and folate antagonists have also implicated folic acid in prevention of other birth defects such as facial clefts and cardiac and limb defects. Dietary folic acid is likely to be inadequate for maximal protection against NTD. Because about half of pregnancies in the U.S. are unplanned, according to the March of Dimes, birth defect prevention includes a recommended daily dose of 400 micro g synthetic folic acid for women of childbearing age. Uniform compliance is estimated to decrease the incidence of NTD by up to 70%. This could reduce the overall incidence from 2 to 0.6 per 1000 pregnancies and prevent disease in approximately 2000 babies per year in the U.S. Four thousand micrograms of folic acid per day is recommended for women with previous pregnancies affected by NTD.

Female↗