Newborn Screening: What Does the Emergency Physician Need to Know?

Pediatric Emergency Care
Lindsay Roofe LavinThomas Abramo

Abstract

Newborn screening programs were established in the United States in the early 1960s. Newborn screening programs were then developed by states and have continued to be the responsibility of the state. All states require a newborn screening, but what is required of these programs and screening panels has differed greatly by state. Historically, the most commonly screened disorders are the following: congenital hypothyroidism, congenital adrenal hyperplasia, sickle cell disease and associated hemoglobinopathies, biotinidase deficiency, galactosemia, cystic fibrosis and phenylketonuria, maple syrup urine disease, and homocystinuria. However, under new guidelines in 2006 and with new advances in technology, the scope of newborn screening programs has expanded to include at a minimum 9 organic acidurias, 5 fatty acid oxidation disorders, 3 hemoglobinopathies, and 6 other conditions. This CME article reviews the logistics of newborn screening and explores the effect of new technology and recent policy on state screens and what that means for providers. This article also highlights several of the disorders most relevant to emergency room physicians and discusses future considerations of newborn screening.

References

Jul 1, 1991·Journal of Child Neurology·P T Ozand, G G Gascon
Mar 17, 2001·Genetics in Medicine : Official Journal of the American College of Medical Genetics·UNKNOWN American College of Medical Genetics/American Society of Human Genetics Test and Technology Transfer Committee Working Group
Sep 5, 2006·Pediatrics·Celia I KayeLloyd-Puryear Michele A
Aug 20, 2009·Nature Reviews. Endocrinology·Perrin C White
Apr 10, 2012·Molecular Genetics and Metabolism·Gerard T Berry
Oct 2, 2012·Indian Journal of Clinical Biochemistry : IJCB·Kannan VaidyanathanD M Vasudevan
Feb 19, 2013·The Journal of Pediatrics·Christine L ChanJennifer M Barker
Apr 30, 2013·Handbook of Clinical Neurology·Georg F Hoffmann, Stefan Kölker

❮ Previous
Next ❯

Citations


❮ Previous
Next ❯

Related Concepts

Related Feeds

Blood And Marrow Transplantation

The use of hematopoietic stem cell transplantation or blood and marrow transplantation (bmt) is on the increase worldwide. BMT is used to replace damaged or destroyed bone marrow with healthy bone marrow stem cells. Here is the latest research on bone and marrow transplantation.

Anemia

Anemia develops when your blood lacks enough healthy red blood cells. Anemia of inflammation (AI, also called anemia of chronic disease) is a common, typically normocytic, normochromic anemia that is caused by an underlying inflammatory disease. Here is the latest research on anemia.

© 2021 Meta ULC. All rights reserved