Newborn Disorders

Newborn screening programs in the United States began in the 1960s. Up-to-date information on state newborn screening panels can be found at Baby's First Test: Conditions Screened by State (Genetic Alliance). The table below lists the conditions currently tested for in most states, with links to Newborn Disorder pages describing them.
Primary care providers may also have to counsel families about the implication of carrier status, such as sickle cell trait. Although carrier status usually has no medical implications for the newborn, there may be important implications for the family. The pages in this section and the ACT sheets provide guidance about such management.
Premature infant with feeding tube
Newborn with Feeding Tube
The real benefit of newborn screening occurs from the long-term management of conditions identified through newborn screening. Although the particular treatment varies by condition, the conditions identified through newborn screening are chronic and complex, and therefore require careful treatment plans and coordinated care between primary care providers and specialists. The Medical Home Workgroup of the National Coordinating Center for the Genetic and Newborn Screening Service Collaboratives (NCC) has recommended an approach to providing family-centered care for children identified through newborn screening programs. [Cooley: 2013]
For information about the conditions and links to more information for physicians and for parents, click the condition name in the table below. The table was adapted with permission from the Newborn Screening ACT Sheets & Confirmatory Algorithms (ACMG) page.
Category Conditions Analyte
Amino Acidemias Arginase Deficiency
Arginine
Argininosuccinic Aciduria
Citrullinemia
Citrulline
Guanidinoacetate Methyltransferase (GAMT) Deficiency
GAMT
Homocystinuria
Methionine
Maple Syrup Urine Disease
Leucine
Phenylketonuria (PKU)
Phenylalanine
Tyrosinemia Type 1
Tyrosine
Endocrine Disorders Congenital Adrenal Hyperplasia
17-OHP
Congenital Hypothyroidism
TSH, T4
Fatty Acid Oxidation Disorders CACT Deficiency
C16 and/or C18:1
CPT1 Deficiency
C0; C0/C16+C18
Carnitine Uptake Defect
C0
Glutaric Acidemia Type 2
C4, C5, (C5-DC), C8, C10, C12 carnitines
LCHAD/TFP Deficiency
C16-OH +/- C18:1-OH
MCADD
C8; C6,C10:1
Short-Chain Acyl-CoA Dehydrogenase Deficiency (SCADD)
C4
VLCADD
C14:1
Galactosemias Galactosemia
GALT, galactose
Genetic Disorders Adrenoleukodystrophy (ALD)
Lysophosphatidylcholines
Critical Congenital Heart Disease
Preductal oxygen saturation
Cystic Fibrosis
Elevated trypsinogen
Hearing Loss & Deafness
Hearing loss
Hemoglobin Disorders Sickle Cell Disease
XXX
Immunodeficiency Disorders Severe Combined Immunodeficiency (SCID)
TREC
Lysosomal Storage Disorders Pompe Disease
N/A
Musculoskeletal Disease Spinal Muscular Atrophy
SMN1 gene
Organic Acidemias 3-Methylglutaconic Aciduria (3MGA)
XXX
Glutaric Acidemia Type 1
C5-DC
2M3HBA Deficiency
3MCC Deficiency
Beta-Ketothiolase Deficiency
Biotinidase Deficiency
HMG-CoA Lyase Deficiency
Holocarboxylase/Multiple Carboxylase Deficiency
C5-OH
Isobutyryl-CoA Dehydrogenase Deficiency
C4
Malonic Acidemia
C3-DC
Methylmalonic Acidemias
Propionic Acidemia
C3
Isovaleric Acidemia
Short/Branched Chain Acyl-CoA Dehydrogenase Deficiency
C5

Resources

Information & Support

For Professionals

Baby's First Test (Genetic Alliance)
Clearinghouse for local, state, and national newborn screening education, programs, policies, and resources. Also, provides many ways for people to connect and share their viewpoints and questions about newborn screening; supported by the U.S. Department of Health and Human Services.

Genetic Alliance
A nonprofit health advocacy organization committed to transforming health through genetics and promoting an environment of openness centered on the health of individuals, families, and communities; their site provides access to myriad resources, services, policies, and publications.

Newborn Screening Coding and Terminology Guide (NLM)
Facilitate the use of electronic health data standards in recording and transmitting newborn screening test results. Includes standard codes and terminology for newborn tests and the conditions for which they screen, and links to other related sites; National Library of Medicine.

Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (HHS)
This federal advisory committee makes recommendations about newborn screening policy, including which conditions should be included in newborn screening panels; U.S. Department of Health and Human Services.

Services for Patients & Families in Rhode Island (RI)

For services not listed above, browse our Services categories or search our database.

* number of provider listings may vary by how states categorize services, whether providers are listed by organization or individual, how services are organized in the state, and other factors; Nationwide (NW) providers are generally limited to web-based services, provider locator services, and organizations that serve children from across the nation.

Helpful Articles

Kemper AR, Boyle CA, Aceves J, Dougherty D, Figge J, Fisch JL, Hinman AR, Greene CL, Kus CA, Miller J, Robertson D, Telfair J, Therrell B, Lloyd-Puryear M, van Dyck PC, Howell RR.
Long-term follow-up after diagnosis resulting from newborn screening: statement of the US Secretary of Health and Human Services' Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children.
Genet Med. 2008;10(4):259-61. PubMed abstract

Kemper AR, Uren RL, Moseley KL, Clark SJ.
Primary care physicians' attitudes regarding follow-up care for children with positive newborn screening results.
Pediatrics. 2006;118(5):1836-41. PubMed abstract

Tarini BA, Clark SJ, Pilli S, Dombkowski KJ, Korzeniewski SJ, Gebremariam A, Eisenhandler J, Grigorescu V.
False-positive newborn screening result and future health care use in a state Medicaid cohort.
Pediatrics. 2011;128(4):715-22. PubMed abstract / Full Text

Tarini BA.
Communicating with parents about newborn screening: the skill of eliciting unspoken emotions.
Arch Pediatr Adolesc Med. 2012;166(1):95-6. PubMed abstract

Authors & Reviewers

Initial publication: April 2007; last update/revision: September 2016
Current Authors and Reviewers:
Author: Chuck Norlin, MD
Reviewer: Nicola Longo, MD, Ph.D.

Page Bibliography

Cooley WC, Kemper AR.
An approach to family-centered coordinated co-management for individuals with conditions identified through newborn screening.
Genet Med. 2013;15(3):174-7. PubMed abstract