NEWBORN SCREENING ACT SHEETS AND CONFIRMATORY ALGORITHMS

NEWBORN SCREENING ACT SHEETS AND CONFIRMATORY ALGORITHMS

The following table describes the interrelationships between the conditions screened in newborn screening laboratories and the markers (analytes) used for screening. For each marker(s), there is 1) an ACTion (ACT) sheet that describes the short term actions a health professional should follow in communicating with the family and determining the appropriate steps in the follow-up of the infant that has screened positive, and 2) an algorithm that presents an overview of the basic steps involved in determining the final diagnosis in the infant. By clicking on either the ACT sheet or Algorithm for a particular condition in the column labeled "Links," you will be linked to the corresponding materials.

The algorithms were developed by a work group that included experts in the various specialties and conditions involved in newborn screening for endocrine, hematological, genetic and metabolic diseases. The first page of the ACT sheets includes information that was developed by the experts. It includes links to informational resources to allow the health professional to obtain additional information, if needed. The second page of the ACT sheet includes links to web sites that allow one to identify subspecialists for consultation and referral for the condition(s) described in the ACT sheet. It is supplemented with links to your State Newborn Screening Program and is available for the inclusion of additional health professionals who may be consulted in your area.

All materials were approved by the Board of Directors of the American College of Medical Genetics (ACMG) on March 22, 2006. The materials will be maintained by ACMG over time and additional materials added as new conditions are introduced into newborn screening programs. The project was partially funded through grant U22MC03957 from the Maternal and Child Health Bureau (MCHB) of the Health Resources and Services Administration (HRSA) of the U.S. Department of Health and Human Services.

Disclaimer: The ACT sheets and algorithms are designed primarily as educational resources for physicians to help them provide quality medical services, and adherence to them does not necessarily ensure a successful medical outcome. The ACT sheets and algorithms should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, the healthcare provider should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen. It may be prudent, however, to document in the patient’s record the rationale for any significant deviation from these ACT sheets and algorithms.

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ACMG Newborn Screening Work Group	Harvey L. Levy, MD (Chair) Children’s Hospital Boston	Michael S. Watson, PhD, FACMG (Project Director) American College of Medical Genetics

Endocrinopathies	Stephen LaFranchi, MD Oregon Health and Sciences University Phyllis Speiser, MD Schneider Children’s Hospital, New York	Kelly Leight, JD CARES Foundation, Inc.

Hemoglobinopathies	James R. Eckman, MD Emory University School of Medicine Peter A. Lane, MD Emory University Scholl of Medicine	Carolyn Hoppe, MD Children’s Hospital Oakland

Genetic Conditions	Garry Cutting, MD Johns Hopkins University School of Medicine Cynthia C. Morton, PhD Brigham and Women’s Hospital Boston	Richard Smith, MD University of Iowa School of Medicine

Metabolic Disorders	Gerard Berry, MD Jefferson Medical College Stephen Goodman, MD University of Colorado Health Science Center Deborah Marsden, MD Children’s Hospital Boston	Dietrich Matern, MD Mayo Clinic College of Medicine William Nyhan, MD University of California, San Diego

Primary Care Providers	Danielle Laraque, MD, FAAP Mount Sinai School of Medicine	Barbara Yawn, MD, FAAFP Olmstead Medical Center

Newborn Screening Programs	Julie Miller, MS Nebraska Department of Health and Human Services Kenneth Pass, PhD New York State Dept. of Health	Bradford Therrell, PhD National Newborn Screening and Genetics Resource Center

MCHB/HRSA	Marie Y. Mann, MD, MPH Genetic Services Branch	Michele Lloyd-Puryear, MD, PhD Genetic Services Branch

To view the files at the links below, you must have Adobe Acrobat Reader version 4 or later. If you do not have a copy of this free software, you may download the latest version from the Adobe website.

To download, go to the Adobe Acrobat web page and enter your preferred language, computer platform and Internet connection speed. For step 2, deselect any downloads you do not want, leaving the box for “Download full version of Adobe Acrobat Reader” checked. Click the red “Download” button to begin your download. You will see a “File Download” box pop up. Click the “Save” button and save the file to your desktop.

From your desktop, double click the AdbeRdr70_DLM_enu_full file to install Adobe Acrobat Reader 7.0 onto your computer. If you have difficulty or experience any error messages indicating that you do not have access or authority to do so, contact your computer IT department for installation.

For technical assistance with the forms, please contact
Lori J. Oxendine at (301) 634-7127 or loxendine@acmg.net.

Newborn Screening Condition-Analyte Table
CONDITION GROUP		CONDITION	ANALYTE	LINKS
ENDOCRINE DISORDERS		Primary congenital hypothyroidism	Elevated TSH
		Primary congenital hypothyroidism	Low T4 +/- Elevated TSH
		Secondary congenital hypothyroidism	Low T4 +/- Elevated TSH
		Thyroxine binding globulin (TBG) deficiency	Low T4 +/- Elevated TSH
		Congenital adrenal hyperplasia (CAH) (21-hydroxylase deficiency)	Elevated 17-OHP

HEMOGLOBIN DISORDERS		Sickle cell anemia (HbSS or HbSßº Thalassemia)	Hemoglobin FS
		Hemoglobin SC disease (HbSC)	Hemoglobin FSC
		Hemoglobin S/beta Thalassemia (HbSß+)	Hemoglobin FSA
		Sickle cell carrier (trait) (HbAS)	Hemoglobin FAS

GENETIC DISORDERS		Biotinidase deficiency	Biotinidase
		Cystic Fibrosis	Immunoreactive trypsinogen (IRT) + IRT or DNA
		Hearing Loss	Hearing loss

M E T A B O L I C	GALACTOSEMIAS	Classical galactosemia	GALT
		Classical galactosemia	Elevated galactose + deficient GALT
		Galactokinase deficiency	Elevated galactose +/- deficient GALT
		Galactose epimerase deficiency	Elevated galactose +/- deficient GALT

M E T A B O L I C	FATTY ACID OXIDATION DISORDERS	Carnitine uptake deficiency	C0
		CPT 1 deficiency	C0; C0/C16+C18
		CPT2 CACT	C16 and/or C18:1
		Glutaric acidemia 2 Ethylmalonic encephalopathy	C4;C5
		LCHAD TFP	C16-OH +/- C18:1-OH
		MCAD	C8; C6,C10
		M/SCHAD	C4-OH
		Short-chain acyl-CoA deficiency (SCAD) Ethylmalonic encephalopathy Isobutyryl-CoA dehydrogenase deficiency	C4
		VLCAD	C14:1 +/-

M E T A B O L I C	ORGANIC ACIDEMIAS	Beta-ketothiolase deficiency Biotinidase deficiency Holocarboxylase deficiency HMG-CoA lyase deficiency 2M3HBA 3MGA 3MCC	C5-OH
		Glutaric acidemia 1	C5-DC
		Isovaleric acidemia Short/branched chain acyl-CoA dehydrogenase deficiency	C5
		Malonic acidemia	C3-DC
		Methylmalonic acidemias Propionic acidemia	C3

M E T A B O L I C	AMINO ACIDEMIAS	Argininemia	Arginine
		Argninosuccinic aciduria Citrullinemia I Citrullinemia II Pyruvate carboxylase deficiency	Citrulline
		Homocystinuria Hypermethioninemia GNMT Adenosylhomocysteine hydrolase deficiency	Methionine
		MSUD Hydroxyprolinuria	Leucine
		Phenylketonuria (PKU) Biopterin cofactor biosynthesis defect Biopterin cofactor regeneration defect	Phenylalanine
		Tyrosinemia I Tyrosinemia II Tyrosinemia III	Tyrosine