(Replaces No. 393, December 2007)
ABSTRACT: Newborn screening programs are mandatory, state-based public health programs. They provide newborns in the United States with presymptomatic testing and necessary follow-up care for a variety of medical conditions for which early intervention will improve neonatal and long-term health outcomes for the individual. Although current state requirements vary, the results of surveys and focus groups of expectant parents demonstrate that women and their families would like to receive information about newborn screening during their prenatal care. The Committee on Genetics recommends that obstetric care providers make resources regarding newborn screening available to patients through informational brochures, electronic sources, or through discussion during prenatal visits.
Newborn screening programs are mandatory, state-based public health programs that provide newborns in the United States with presymptomatic testing and necessary follow-up care for a variety of medical conditions. The goal of these essential public health programs is to decrease morbidity and mortality by screening for disorders for which early intervention will improve neonatal and long-term health outcomes for the individual. Newborn screening programs test infants for various congenital disorders, including genetic and metabolic conditions, hearing loss, hemoglobinopathies, and infectious diseases such as human immunodeficiency virus (HIV) and toxoplasmosis. Most of the disorders screened through these programs have no clinical findings at birth. In 2006, the Centers for Disease Control and Prevention estimated that approximately 68% of children identified as screen positive by newborn screening in the United States were affected by galactosemia, the major hemoglobinopathies, phenylketonuria, and congenital hypothyroidism (2). The remaining one third were affected by one of the other disorders identified as recommended targets for newborn screening (see Table 1 and “Recommended Uniform Screening Panel” as follows).
|Table 1. Recommended Uniform Newborn Screening Panel as of May 2010*
|Inborn errors of organic acid metabolism
Glutaric acidemia type 1
3-hydroxy 3-methylglutaric aciduria
Holocarboxylase synthase deficiency
Methylmalonic acidemia (mutase)
3-Methylcrotonyl-CoA carboxylase deficiency
Methylmalonic acidemia (Cbl A, B)
|Inborn errors of fatty acid metabolism
||Medium-chain acyl-CoA dehydrogenase deficiency
Very long-chain acyl-CoA dehydrogenase deficiency
Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency
Trifunctional protein deficiency
Carnitine uptake/transport defect
|Inborn errors of amino acid metabolism
Maple syrup urine disease
Citrullinemia, type I
Tyrosinemia, type I
||S,S disease (Sickle cell anemia)
|Miscellaneous multisystem diseases
||Primary congenital hypothyroidism
Congenital adrenal hyperplasia
Severe combined immunodeficiency
|Newborn screening by methods other than blood testing
||Congenital hearing loss
*For updated information, please see http://www.hrsa.gov/heritabledisorderscommittee/default.htm.
Data from Maternal and Child Health Bureau: Health Resources and Services Administration. Newborn Screening: Toward a Uniform Screening Panel and System. Federal Register: March 8, 2005 (Volume 70, Number 44). Available at http://mchb.hrsa.gov/screening. Retrieved on September 14, 2010.
Newborn screening programs are developed and managed on the state level and operate through collaborations between public health programs, laboratories, hospitals, pediatricians, subspecialists, and specialty diagnostic centers. Their functions include the initial screening of all newborns, identifying screen-positive neonates, diagnosing conditions, communicating with families, ensuring that affected children are referred to treatment centers, following long-term outcomes, and educating physicians and the public according to individual state guidelines. States test newborns primarily through blood samples collected from heel pricks that are placed on a special filter paper. The specimens are sent to a designated state newborn screening laboratory within 24 hours. Limitations for obtaining specimens include newborns that require a transfusion or total parenteral nutrition, sick or preterm infants, or infants born out of the hospital setting. These newborns still require testing, but screening takes place in a variable time frame, with adjustments made according to circumstances.
Recommended Uniform Screening Panel
In 2006, the American College of Medical Genetics published an Executive Summary (1), commissioned bythe Maternal and Child Health Bureau of the Health Resources and Services Administration to establish a process of standardization for state health departments, including establishing collection procedures and outcome data for newborn screening. This summary was based on recommendations from a multidisciplinary team of experts and recommended a uniform panel of 29 core conditions for which all newborns should be screened (see Table 1). Each condition has a screening test that can be performed within 24–48 hours after birth, can be treated, and has a known natural history. It is intended that this core panel remain flexible, and criteria have been established to perform evidence-based reviews and expand this panel over time. In September 2006, this panel of 29 core conditions was adopted by the U.S. Secretary of Health and Human Services' Advisory Committee on Heritable Disorders in Newborns and Children as their Recommended Uniform Panel and was endorsed by the U. S. Secretary of Health and Human Services in May 2010. Subsequently, after reviewing the evidence, a 30th condition, severe combined immunodeficiency, was added to the Recommended Uniform Screening Panel by the Secretary of Health and Human Services at the advice of the Secretary's Advisory Committee on Heritable Disorders in Newborns and Children. The list of recommended conditions for newborn screening programs is continually being evaluated; for an updated list, see the Secretary's Advisory Committee on Heritable Disorders in Newborns and Children website, available at http://www.hrsa.gov/heritabledisorderscommittee/uniformscreeningpanel.htm.
The introduction into newborn screening programs of tandem mass spectrometry, a method of measuring the molecular mass of a sample, has made it possible to detect many more disorders. Additional disorders identified using tandem mass spectrometry are included in some states' newborn screening panels. These secondary targets are believed to be clinically significant, but they have an unclear natural history or lack an appropriate medical therapy that affects long-term outcome.
Almost all states have adopted the guidelines suggested by the Secretary's Advisory Committee on Heritable Disorders in Newborns and Children. The selection of disorders screened for is affected by the disease prevalence within the state, detection rates, treatment availability, and cost considerations (3). A current list of conditions screened for in each state is maintained online by the National Newborn Screening and Genetic Resource Center, available at http://genes-r-us.uthscsa.edu/resources/consumer/statemap.htm.
All U.S. states, U.S. territories, and the District of Columbia have individual newborn screening programs. Statutes and regulations are variable across states. Some programs require that parents be given the option to provide consent. Other states require the parent (or guardian) to provide consent if identifiable information will be disclosed outside the program. Penalties exist for violating newborn screening regulations in several states (4).
Parent Education and the Role of the Obstetrician–Gynecologist
Currently, approximately 20 states mandate the dissemination of newborn screening information through birthing facilities and have state-specific information that they distribute (4). The results of surveys and focus groups of expectant parents demonstrate that women and their families would like to receive information about newborn screening during their prenatal care visits (5, 6). Thus, integrating education about newborn screening into prenatal care is desirable and would allow parents to be prepared for receiving newborn screening test results after birth. Providing newborn screening information during prenatal care visits can be accomplished in a number of ways. For example, newborn screening information could be provided during the first trimester education session and included in a pamphlet along with other patient education materials given at the first obstetric visit, or given to patients later in pregnancy when other educational information is distributed. Information on newborn screening also could be provided to patients during discussion of past adverse pregnancy outcomes regarding a positive newborn screening test result or birth defect. The American College of Obstetricians and Gynecologists has published three patient education brochures on newborn screening that are available online:
- Quick Reference to Newborn Screening Disorders
- These Tests Could Save Your Baby's Life: Newborn Screening Tests
- Seven Things Parents Want to Know About Newborn Screening
There are many additional resources available through a variety of organizations, including videos, print patient education brochures, and web sites that provide information for patients and professionals (Box 1 and Box 2). These resources are available to patients who desire additional information.
The Committee on Genetics recommends that obstetric care providers make resources regarding newborn screening available to patients during pregnancy. Information can be disseminated through informational brochures, electronic sources, or through discussion during prenatal visits.
- Newborn screening: toward a uniform screening panel and system—executive summary. American College of Medical Genetics Newborn Screening Expert Group. Pediatrics 2006;117:S296–307.
- Impact of expanded newborn screening—United States, 2006. Centers for Disease Control and Prevention (CDC). MMWR Morb Mortal Wkly Rep 2008;57:1012–5.
- National Newborn Screening and Genetics Resource Center. National newborn screening status report. Austin (TX): NNSGRC; 2010. Available at: http://genes-r-us.uthscsa.edu/nbsdisorders.pdf. Retrieved November 1, 2010.
- Therrell BL, Johnson A, Williams D. Status of newborn screening programs in the United States. Pediatrics 2006;117:S212–52.
- Campbell ED, Ross LF. Incorporating newborn screening into prenatal care. Am J Obstet Gynecol 2004;190:876–7.
- Davis TC, Humiston SG, Arnold CL, Bocchini JA Jr, Bass PF3rd, Kennen EM, et al. Recommendations for effective newborn screening communication: results of focus groups with parents, providers, and experts. Pediatrics 2006;117:S326–40.
Copyright © March 2011 by the American College of Obstetricians and Gynecologists, 409 12th Street, SW, PO Box 96920, Washington, DC 20090-6920. All rights reserved. No part of this publication may be reproduced, stored in a retrieval system, posted on the Internet, or transmitted, in any form or by any means, electronic, mechanical, photocopying, recording, or otherwise, without prior written permission from the publisher. Requests for authorization to make photocopies should be directed to: Copyright Clearance Center, 222 Rosewood Drive, Danvers, MA 01923, (978) 750-8400.
Newborn screening. Committee Opinion No. 481. American College of Obstetricians and Gynecologists. Obstet Gynecol 2011;117:762–5