Newborn Disorders

Newborn screening programs in the U.S. began in the early 1960s with Robert Guthrie's development of the filter paper-based testing technology, still in use and known as the "Guthrie spot." The success of a pilot study that screened 400,000 newborns for PKU in 29 states, led to immediate adoption of PKU screening by many states. Every state now employs newborn screening on blood specimens to identify disorders that can, without early intervention, cause potentially serious illness, injury, or death. Recent advances in screening technology (e.g. tandem mass spectrometry or MS/MS) allow for rapid screening for many inborn conditions on very small samples of blood. In addition to blood-spot based screening, two point-of-care tests are recommended for inclusion in newborn screening: screening for congenital hearing loss and screening for critical congenital heart disease. Each state determines which conditions to include in newborn screening, with guidance from the US Secretary of Health and Human Services. Up-to-date information about state newborn screening panels and descriptions of the conditions is available at: Conditions Screened by State (Baby's First Test). The table below lists the conditions currently tested for in most states, with links to Newborn Disorder pages describing them.

Conditions are only included in newborn screening if early detection leads to improved outcomes. Therefore, it is critical to assure that all babies are tested and that the results of screening are carefully followed up. All newborn screening activities function as a partnership between state public health programs and health care providers. In many instances, if a highly abnormal newborn screening result is identified by the laboratory, the family may be contacted directly by the newborn screening program, prior to notification of any health care provider, to begin the process of evaluation and treatment. However, primary care clinicians are often responsible for informing families about screening results and for coordinating the care after a positive screen. This can be challenging because most primary care providers may have limited experience with the particular condition. To assist in this process, the American College of Medical Genetics has developed Newborn Screening ACT Sheets & Confirmatory Algorithms (ACMG), which provide guidance about the steps needed for confirmatory testing and initial management. Although the screening tests are highly specific, false positives occur. When providing positive screening results to families, it is critical to both explain the importance of follow-up to determine whether the newborn has the condition and to explain that false positives can occur and to reassure that a false positive has no health implications for the child. In all cases, the state newborn screening program is a highly valuable resource for helping with the initial management of a positive newborn screening result. To find information about each state's program, see National Newborn Screening and Global Resource Center (NNSGRC).

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.

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 Acid Disorders	Argininemia	Arginine
	Argininosuccinic aciduria Citrullinemia	Citrulline
	Homocystinuria	Methionine
	Maple syrup urine disease	Leucine
	PKU	Phenylalanine
	Tyrosinemia type 1	Tyrosine
Endocrine Disorders	Congenital adrenal hyperplasia	17-OHP
	Congenital hypothyroidism	TSH, T4
Exocrine Disorders	Cystic fibrosis	Elevated trypsinogen
Fatty Acid Oxidation Disorders	CACT deficiency	C16 and/or C18:1
	CPT1 deficiency	C0; C0/C16+C18
	Carnitine uptake deficiency	C0
	Glutaric acidemia type 2	C4, C5, (C5-DC), C8, C10, C12 carnitines
	LCHADD/TFP deficiency	C16-OH +/- C18:1-OH
	MCADD	C8; C6,C10
	Short-chain acyl-CoA deficiency (SCADD)	C4
	VLCADD	C14:1 +/-
Hemoglobinopathies	Sickle cell disease	Hemoglobin FS
Organic Acidemias	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 Co-A dehydrogenase deficiency	C4
	Malonic aciduria	C3-DC
	Methylmalonic acidemias Propionic acidemia	C3
	Isovaleric acidemia Short/branched chain acyl-CoA dehydrogenase deficiency	C5
Other Disorders	Galactosemia	GALT, galactose
	Hearing impairment	Hearing loss