scholarly journals Implementation and analysis of a pilot in-hospital newborn screening program for glucose-6-phosphate dehydrogenase deficiency in the United States

2010 ◽  
Vol 31 (2) ◽  
pp. 112-117 ◽  
Author(s):  
M L Nock ◽  
E M Johnson ◽  
R R Krugman ◽  
J M Di Fiore ◽  
S Fitzgerald ◽  
...  
Keyword(s):  
United States ◽  
Newborn Screening ◽  
Dehydrogenase Deficiency ◽  
Screening Program ◽  
The United States ◽  
Newborn Screening Program ◽  
Glucose 6 Phosphate Dehydrogenase

Newborn Screening Program Practices in the United States: Notification, Research, and Consent

PEDIATRICS ◽  
2002 ◽  
Vol 109 (2) ◽  
pp. 269-273 ◽  
Author(s):  
K. D. Mandl ◽  
S. Feit ◽  
C. Larson ◽  
I. S. Kohane
Keyword(s):  
United States ◽  
Newborn Screening ◽  
Screening Program ◽  
The United States ◽  
Newborn Screening Program

scholarly journals Severe Malaria Complicated by G6PD Deficiency in a Pediatric Tanzanian Immigrant

2014 ◽  
Vol 19 (4) ◽  
pp. 325-334
Author(s):  
Heather N. Damhoff ◽  
Robert J. Kuhn ◽  
Laura P. Stadler
Keyword(s):  
United States ◽  
Plasmodium Falciparum ◽  
Severe Malaria ◽  
G6pd Deficiency ◽  
Dehydrogenase Deficiency ◽  
Febrile Illness ◽  
The United States ◽  
The World ◽  
Glucose 6 Phosphate Dehydrogenase ◽  
Dual Infections

Approximately 1,500 cases of malaria are diagnosed in the United States each year. Most cases are travelers and immigrants returning from parts of the world where malaria transmission occurs. Malaria is the most frequent cause of systemic febrile illness without localizing symptoms in travelers returning from the developing world, so vigilance by providers is needed when evaluating patients returning from areas in which malaria is endemic. Despite the availability of effective treatment, malaria still accounts for more than 1 million deaths per year worldwide, with rates being disproportionately high in young children under the age of 5. We present the case of a 4-year-old refugee who emigrated from Tanzania with severe malaria due to dual infections of Plasmodium falciparum and P. ovale, whose treatment course was complicated by quinidine gluconate cardiotoxicity and glucose-6-phosphate dehydrogenase deficiency.

scholarly journals Glucose-6-Phosphate Dehydrogenase Deficiency and the Benefits of Early Screening

2020 ◽  
Vol 39 (5) ◽  
pp. 270-282
Author(s):  
Julie Jensen DelFavero ◽  
Amy J. Jnah ◽  
Desi Newberry
Keyword(s):  
United States ◽  
Risk Assessment ◽  
G6pd Deficiency ◽  
Dehydrogenase Deficiency ◽  
Assessment Tool ◽  
The United States ◽  
Assessment Tools ◽  
Early Screening ◽  
Intercultural Marriages ◽  
Glucose 6 Phosphate Dehydrogenase

Glucose-6-phosphate dehydrogenase (G6PD) deficiency, the most common enzymopathy worldwide, is an insufficient amount of the G6PD enzyme, which is vital to the protection of the erythrocyte. Deficient enzyme levels lead to oxidative damage, hemolysis, and resultant severe hyperbilirubinemia. If not promptly recognized and treated, G6PD deficiency can potentially lead to bilirubin-induced neurologic dysfunction, acute bilirubin encephalopathy, and kernicterus. Glucose-6-phosphate dehydrogenase deficiency is one of the three most common causes for pathologic hyperbilirubinemia. A change in migration patterns and intercultural marriages have created an increased incidence of G6PD deficiency in the United States. Currently, there is no universally mandated metabolic screening or clinical risk assessment tool for G6PD deficiency in the United States. Mandatory universal screening for G6PD deficiency, which includes surveillance and hospital-based risk assessment tools, can identify the at-risk infant and foster early identification, diagnosis, and treatment to eliminate neurotoxicity.

scholarly journals A súlyos kombinált immundefektusok újszülöttkori szűrővizsgálata

2018 ◽  
Vol 159 (23) ◽  
pp. 948-956
Author(s):  
Melinda Erdős
Keyword(s):  
Immune Deficiency ◽  
Newborn Screening ◽  
Screening Program ◽  
Severe Combined Immunodeficiency ◽  
The United States ◽  
Combined Immunodeficiency ◽  
Newborn Screening Program ◽  
Negative Family History ◽  
Combined Immunodeficiencies ◽  
Severe Combined Immunodeficiencies

Abstract: Severe combined immunodeficiency is the first immune deficiency disorder which was included in the newborn screening program in the United States in 2010. In Hungary, newborn screening for severe combined immunodeficiencies is crucial because of the routine BCG vaccination, as in the case of an affected newborn with negative family history, the vaccine may lead to fatal BCG-itis. This paper analyzes the possibilities of introducing newborn screening for severe combined immunodeficiencies and summarizes current experiences and results. Orv Hetil. 2018; 159(23): 948–956.

scholarly journals Newborn Iodine Status Is Not Related to Congenital Hypothyroidism

2020 ◽  
Vol 150 (9) ◽  
pp. 2429-2434
Author(s):  
James L Mills ◽  
Elijah C Reische ◽  
Kurunthachalam Kannan ◽  
Chongjing Gao ◽  
Gary M Shaw ◽  
...  
Keyword(s):  
United States ◽  
Newborn Screening ◽  
Congenital Hypothyroidism ◽  
Iodine Deficiency ◽  
Neonatal Intensive Care ◽  
Screening Program ◽  
Iodine Concentration ◽  
The United States ◽  
Dried Blood Spots ◽  
Iodine Status

ABSTRACT Background Severe iodine deficiency or excess during pregnancy can cause congenital hypothyroidism (CH). Iodine deficiency is common in pregnant women in the United States. Objectives We conducted a nested case–control study in a cohort of ∼2.5 million births in California to determine whether iodine status is related to CH in a US population. Methods Dried blood spots from 907 newborns with CH identified by newborn screening and 909 unaffected controls matched by month of birth were obtained from the California Newborn Screening Program to measure whole-blood iodine concentration. Iodine status was compared between cases and controls, and logistic regression was used to assess the association between CH status and blood iodine concentrations. Iodine status was also compared between cases and controls among infants treated in a neonatal intensive care unit (NICU) because CH has been reported in infants exposed to high levels of iodine in the NICU. Results Blood iodine concentrations did not differ significantly between cases (median: 20.0 ng/mL; IQR: 12.1–29.8 ng/mL) and controls (median: 20.3 ng/mL; IQR: 12.5–30.9 ng/mL; P = 0.59). Neither extremely high nor extremely low blood iodine concentrations (1st, 5th, 95th, and 99th percentiles of the distribution) were more common in cases. Among infants treated in NICUs, however, cases had significantly (P = 0.01) higher iodine (median: 22.7 ng/mL; IQR: 16.4–32.1 ng/mL) compared with controls (median: 17.3 ng/mL; IQR: 8.3–26.6 ng/mL). Conclusions CH cases did not have significantly higher or lower iodine in this population, which is reassuring given that maternal iodine deficiency is common in the United States. Among newborns in the NICU, CH cases had higher blood iodine concentrations compared with controls, suggesting that excess iodine exposure in the NICU could be causing CH. It may be beneficial to monitor iodine exposure from surgical procedures, imaging, and iodine-containing disinfectants and to consider non-iodine alternatives.

scholarly journals Should we screen newborns for glucose-6-phosphate dehydrogenase deficiency in the United States?

2013 ◽  
Vol 33 (7) ◽  
pp. 499-504 ◽  
Author(s):  
J F Watchko ◽  
M Kaplan ◽  
A R Stark ◽  
D K Stevenson ◽  
V K Bhutani
Keyword(s):  
United States ◽  
Dehydrogenase Deficiency ◽  
The United States ◽  
Glucose 6 Phosphate Dehydrogenase

Genetics and the Law

2021 ◽  
Author(s):  
Maxwell Mehlman ◽  
Mette Hartlev ◽  
Sonia Suter
Keyword(s):  
United States ◽  
Gene Therapy ◽  
Informed Consent ◽  
Newborn Screening ◽  
Screening Program ◽  
The United States ◽  
Parental Consent ◽  
Genetic Sequencing ◽  
Opt Out ◽  
Genetic Technologies

This chapter explores the similarities and differences in the legal approaches in the United States and Europe to genetic issues. Both the United States and Europe value informed consent and autonomy in this context. As a result, individuals must give informed consent to genetic testing and can decide to opt out of being informed by their health professionals about genetic sequencing results, including results that are clinically relevant. All states in the United States conduct newborn screening using DNA samples, and most do so without parental consent. In Europe, most countries have a newborn screening program, and most of these require parental consent. The chapter also looks at the legal approaches to genetic discrimination, as well as human gene therapy and gene therapy research. As genetic technologies continue to evolve, the United States and Europe will likely continue to face similar ethical and legal issues regarding the regulation of that genetic technology. However, their approaches will likely overlap in some ways and diverge in others, reflecting differences in the legal structures and cultures of each jurisdiction.

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