There are a number of different neonatal screening (newborn screening) programs in different countries testing for various "common" abnormalities and infections. In addition to the Gutherie test there are also physical tests for hip displasia and a growing number of countries testing of newborn hearing.
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Guthrie Card |
Heart |
Hip Displasia |
Hearing |
Page Links: Introduction | Some Recent Findings | Guthrie Test | Routine Screened Disorders | Gene Tests | Hip Displasia | Hearing | Heart | Australian Information | NSW Information | American Information | Normal Health Statistics | NCBI Bookshelf | Childhood Disease | References | Glossary
Study Supports Screening Babies for Heart-Rhythm Defect "Routine electrocardiogram (ECG) screening for newborns would save many lives by identifying a potentially deadly genetic condition called long QT syndrome, Italian researchers report."
Kempers MJ, Lanting CI, van Heijst AF, van Trotsenburg AS, Wiedijk BM, de Vijlder JJ, Vulsma T. Neonatal screening for congenital hypothyroidism based on T4, TSH and TBG measurement: Potentials and pitfalls. J Clin Endocrinol Metab. 2006 Jun 20; "The Dutch incidence figures for CH belong to the highest worldwide suggesting that the T4-TSH-TBG screening program is an efficient method to detect CH of variable etiology and severity. Still, a small percentage of children with CH escaped detection via this screening approach. Severe illness and TBG deficiency appear to be responsible for the majority of false-positive referrals."
U.S. Preventive Service Task Force. Screening for developmental dysplasia of the hip: recommendation statement. Am Fam Physician. 2006 Jun 1;73(11):1992-6.
Dr Robert Guthrie
A blood screening test developed by Dr Robert Guthrie (1916-95) at University of Buffalo. Test is carried out on neonate (newborn) blood for a variety of knowm genetic disorders.
Blood is collected using a heelprick and spotted onto a test sheet to dry for later testing. Different countries and medical services have different policies on not only what will
be tested for but also how long the test card will be kept following analysis. Check your local service for specific information.
Links: National Coalition PKU Disorders Tribute to Dr Robert Guthrie | Museum of DisABILITIES The Birth of Newborn Screening |
Biotinidase Deficiency (OMIM)
Congenital Adrenal Hyperplasia (CAH) (OMIM)
Congenital Hypothyroidism (CH)
Congenital Toxoplasmosis
Cystic Fibrosis (CF) (OMIM)
Galactosemia (GAL) (OMIM)
Homocystinuria (OMIM)
Maple Syrup Urine Disease (MSUD) (OMIM)
Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCAD) (OMIM)
A new site developed by NIH "GeneTests" provides medical genetics information resources available at no cost to all interested persons. It contains educational information, a directory of genetic testing laboratories and links to other databases such as OMIM.
Links: GeneTests |
U.S. Preventive Service Task Force. Screening for developmental dysplasia of the hip: recommendation statement. Am Fam Physician. 2006 Jun 1;73(11):1992-6.
Links: Musculoskeletal Abnormalities- Congenital Dislocation of the Hip |
The incidence of significant permanent hearing loss is approximately 1-3/1000 newborns. Neonatal hearing screening is carried out in the USA, UK and in Australia (2002 NSW Statewide Infant Screening Hearing Program, SWISH) There is a general guide giving a timetable for a number of simple responses that a neonate should make if hearing has developed normally (More? Neonatal Hearing Check List).
State Wide Infant Screening Hearing Program (SWISH) a newborn hearing testing program using an automated auditory response technology (AABR). Program was introduced in NSW Australia in 2002 across 17 area health service coordinators. It is thought that in NSW 86,000 births/year = 86-172 babies potentially born with significant permanent hearing loss.
Automated Auditory Brainstem Response (AABR) uses a stimulus which is delivered through earphones and detected by scalp electrodes. The test takes between 8 to 20 minutes and has a sensitivity 96-99%.
References: Kennedy CR. Neonatal screening for hearing impairment. Arch Dis Child. 2000 Nov;83(5):377-83. | Puig T, Municio A, Meda C. Universal neonatal hearing screening versus selective screening as part of the management of childhood deafness. Cochrane Database Syst Rev. 2005 Apr 18;(2):CD003731.
Links: Development of the Organs of Audition and Equilibrium | Australia NSW Statewide Infant Screening - Hearing Program What is SWISH? | eMJA Newborn hearing screening: decision time for Australia | NSW Health Pamphlet Why does my baby need a hearing check? | eMJA Does every baby get a newborn screening test? | United Kingdom Newborn Hearing Screening Programme | USA National Center for Hearing Assessment and Management | Health Services/Technology Assessment Text Early Identification of Hearing Impairment in Infants and Young Children
The timing and types of responses listed below reflect only a rough guide for the general population. Abnormalities in neurological, visual or motor skill development can also affect responses.
Birth to 3 months
3 to 6 months
6 to 9 months
9 to 12 months
12 to 18 months
18 to 24 months
(Hearing Check List text based upon NSW Health Pamphlet 2002 - Why does my baby need a hearing check?)
An electrocardiogram (ECG / EKG) is an electrical recording of the heart.
Study Supports Screening Babies for Heart-Rhythm Defect "Routine electrocardiogram (ECG) screening for newborns would save many lives by identifying a potentially deadly genetic condition called long QT syndrome, Italian researchers report."
Schwartz PJ, Garson A Jr, Paul T, Stramba-Badiale M, Vetter VL, Wren C; European Society of Cardiology. Guidelines for the interpretation of the neonatal electrocardiogram. A task force of the European Society of Cardiology. Eur Heart J. 2002 Sep;23(17):1329-44.
Links: Cardiovascular System Development | Embryonic Heart Rate | Interpretation of electrocardiograms in infants and children. Images Paediatr Cardiol 1999;1:3-13 | Guidelines for the interpretation of the neonatal electrocardiogram | brief history of electrocardiography |
Links: The NSW Newborn Screening Programme | Test to Protect your Baby (PDF) |
Links: National Newborn Screening and Genetics Resource Center |
History/Overview of Newborn Screening | Medline - Newborn Screening | Medline - Prenatal Testing |American Academy of Family Physicians The Newborn Examination: Part I. Emergencies and Common Abnormalities Involving the Skin, Head, Neck, Chest, and Respiratory and Cardiovascular Systems | Part II. Emergencies and Common Abnormalities Involving the Abdomen, Pelvis, Extremities, Genitalia, and Spine | Common Issues in the Care of Sick Neonates
American Medical Association "Kids Health" (these are easy to read general public pages American not Australian Information ) | Baby Development by Age | Baby Development by Topic | Childhood Infections | Childhood Immunizations
The NCBI Bookshelf contains a number of complete online publications that relate to neonatal development. Of particular interest, is the new resource "Disease Control Priorities in Developing Countries", which talks to important neonatal health issues in these countries.
ealth Services/Technology Assessment Text | Disease Control Priorities in Developing Countries | Basic Neurochemistry |
Health Services/Technology Assessment Text (HSTAT) Bethesda (MD): National Library of Medicine (US), 2003 Oct.
Criteria for Determining Disability in Infants and Children: Low Birth Weight
Effects of Omega-3 Fatty Acids on Child and Maternal Health
Management of Neonatal Hyperbilirubinemia
Criteria for Determining Disability in Infants and Children: Failure to Thrive
Newborn Screening for Sickle Cell Disease and Other Hemoglobinopathies
Early Identification of Hearing Impairment in Infants and Young Children
The Effect of Corticosteroids for Fetal Maturation on Perinatal Outcomes
Disease Control Priorities in Developing Countries (2nd ed.) Dean T. Jamison, Joel G. Breman, Anthony R. Measham, George Alleyne, Mariam Claeson, David B. Evans, Prabhat Jha, Anne Mills, Philip Musgrove, editors Washington (DC): IBRD/The World Bank and Oxford University Press; 2006
Maternal and Perinatal Conditions
Basic Neurochemistry, Molecular, Cellular, and Medical Aspects (6th ed.) Siegal, George J.; Agranoff, Bernard W.; Albers, R. Wayne; Fisher, Stephen K.; Uhler, Michael D., editors. Philadelphia: Lippincott, Williams & Wilkins; c1999.
etiology of schizophrenia may involve pathological processes during brain development
steroid hormone receptors become evident in target neurons of the brain
Biochemistry of Thyroid Hormone Actions on Brain
"Hypothyroidism increases synaptic density, at least transiently. Interesting parallels with synapse formation are reported for learning behavior in rats; neonatal hypothyroidism impairs learning ability, whereas hyperthyroidism accelerates learning initially, followed by a decline later in life"
"The outlook is almost uniformly fatal, and the few babies who survive have severely compromised development and a cardiomyopathy that usually proves fatal. In rare cases, a patient stays asymptomatic until after the neonatal period, when hepatomegaly, vomiting, metabolic acidosis, hypoglycemia and a proximal myopathy become evident."
brain utilizes ketones in states of ketosis
"Significant utilization of ketone bodies by the brain is, however, normal in the neonatal period. The newborn infant tends to be hypoglycemic but becomes ketotic when it begins to nurse because of the high fat content of the mother's milk. When weaned onto the normal, relatively high-carbohydrate diet, the ketosis and cerebral ketone utilization disappear."
International Society for Neonatal Screening International Society for Neonatal Screening | Fact Sheets |
World Health Organization (WHO) Immunization, Vaccines and Biologicals
Kidshealth Org Newborn Screening Tests
Australian Birth Statistics | International and Australian Population Statistics | WHO Normal Population Statistics | Fact Sheets | Global Perinatal and Maternal Causes of Death | Population Comparisons between Countries | Developed and developing | Australian neighbours | Australian Trading Partners | USA National Center for Health Statistics - Child
Normal population statistics derived from a number of different sources (as shown on individual pages).
Links: Reviews | Articles | Online Textbooks | Search Textbooks | Search PubMed | Glossary
Reviews
Kempers MJ, Lanting CI, van Heijst AF, van Trotsenburg AS, Wiedijk BM, de Vijlder JJ, Vulsma T. Neonatal screening for congenital hypothyroidism based on T4, TSH and TBG measurement: Potentials and pitfalls. J Clin Endocrinol Metab. 2006 Jun 20;
U.S. Preventive Service Task Force. Screening for developmental dysplasia of the hip: recommendation statement. Am Fam Physician. 2006 Jun 1;73(11):1992-6.
Schwartz PJ, Garson A Jr, Paul T, Stramba-Badiale M, Vetter VL, Wren C; European Society of Cardiology. Guidelines for the interpretation of the neonatal electrocardiogram. A task force of the European Society of Cardiology. Eur Heart J. 2002 Sep;23(17):1329-44.
Articles
Kennedy CR. Neonatal screening for hearing impairment. Arch Dis Child. 2000 Nov;83(5):377-83.
Puig T, Municio A, Meda C. Universal neonatal hearing screening versus selective screening as part of the management of childhood deafness. Cochrane Database Syst Rev. 2005 Apr 18;(2):CD003731.
Search PubMed
Search July 2006 "neonatal screening" 4,409 reference articles of which 682 were reviews.
Search PubMed: term = neonatal screening | newborn screening | Guthrie Test |
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This section of notes covers issues related to the neonatal screening for abnormalities and infections.
It would seem obvious to say that development does not stop at birth. In fact many systems (cardiovascular, respiratory, gastrointestinal, homeostasis) undergo significant changes at birth, and many others (neural) have not yet completed their development.
Note this current project focuses on prenatal development, so postnatal content is not as detailed.
Please email Dr Mark Hill if you wish to make a comment about this current project.