Newborn screening and genetic testing

Michele A Lloyd-Puryear; Irene Forsman

doi:10.1111/j.1552-6909.2002.tb00041.x

Newborn screening and genetic testing

J Obstet Gynecol Neonatal Nurs. 2002 Mar-Apr;31(2):200-7. doi: 10.1111/j.1552-6909.2002.tb00041.x.

Authors

Michele A Lloyd-Puryear¹, Irene Forsman

Affiliation

¹ Genetic Services Branch, Division of Services for Children With Health Needs, Maternal and Child Health Bureau, Health Resources and Services Administration, US Department of Health and Human Services, Rockville, MD 20857, USA. Mpuryear@hrsa.gov

PMID: 11926404
DOI: 10.1111/j.1552-6909.2002.tb00041.x

Abstract

Mandated newborn screening programs for genetic and other congenital conditions for the some 4 million infants born in the United States each year have seen dramatic changes over the past decade. With the mapping of the human genome and other advances in science and technology, there will be continued challenges to and changes in these programs. Nurses who care for infants and their families should be knowledgeable about those changes to correctly transmit information to families and to participate in determining policy for newborn screening practices.

Publication types

Case Reports
Review

MeSH terms

Acyl-CoA Dehydrogenase
Anemia, Sickle Cell / diagnosis
Child, Preschool
Continuity of Patient Care / organization & administration
Fatty Acid Desaturases / deficiency
Female
Genetic Diseases, Inborn / diagnosis*
Genetic Testing / methods
Genetic Testing / organization & administration*
Genetic Testing / trends
Hearing Disorders / congenital
Hearing Disorders / diagnosis
Humans
Infant, Newborn
Infant, Newborn, Diseases / diagnosis*
Male
Mass Spectrometry / methods
Neonatal Screening / methods
Neonatal Screening / organization & administration*
Neonatal Screening / trends
Patient Education as Topic / organization & administration
Phenylketonurias / diagnosis
Professional-Family Relations

Substances

Fatty Acid Desaturases
Acyl-CoA Dehydrogenase