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Key Findings

Key Finding: Developing a public health tracking system for follow-up of newborn screening metabolic conditions
CDC researchers and others found that existing public health data programs for newborn screening and birth defects tracking could be used for long term follow-up of newborn screening..
(Published: December 11, 2013)

Key Findings: Improving Newborn Screening Follow-up in Pediatric Practices
A 6-month quality improvement project in 15 primary care pediatric practices enhanced short-term newborn screening follow-up. The project included assessment of screening results, documentation of results, and communicating results to families.
(Published: October 15, 2012)

Feature Articles

Newborn Screening: Saving Lives for 50 Years
How much do you know about newborn screening? Take our quiz to find out.
(Published: September 16, 2013)

Family's Health History
Your family's health history could be important for determining your child's health risks.
(Published: November 25, 2013)

Newborn Screening Can Help Prevent Problems
Soon after birth, babies born in the United States are checked for certain medical conditions. Learn more about newborn screening and read Kristine’s story.
(Published: August 27, 2012)

Document Your Family's Health History
Your family's health history could be important for determining your child's health risks.
(Published: November 21, 2011)

What's Your Baby's Hearing Screening Result?
Babies begin to develop speech and language from the time they are born. All parents should learn the results of their baby's newborn hearing screening test.
(Published: May 18, 2011)

 

CDC Website Spotlight

The following articles were featured on the CDC Website:

CDC Feature on Screening for Heart Defects

A Mother’s Story In the US, about 1 in every 100 babies is born with a congenital heart defect. About 25% of these heart defects are critical congenital heart defects. Read one mother’s story about her son’s critical congenital heart defect. [Read feature]

CDC Feature on Newborn Screening

Soon after birth, babies born in the United States are checked for certain medical conditions. This is called newborn screening. Learn more about CDC's newborn screening activities.
[English] [Spanish]


CDC Feature on Document Your Family’s Health History

Your family's health history could be important for your child's health. Learn more about how to document your family's health history and share this health history with your child's doctor.
[English] [Spanish]

Articles of Interest

* These CDC scientific articles are listed in order of date published.

Newborn Screening and Related Conditions

Rapid Implementation of Statewide Mandate for Pulse Oximetry Newborn Screening to Detect Critical Congenital Heart Defects—New Jersey, 2011
Morbidity and Mortality Weekly Report; 2013; 62:292-294
Centers for Disease Control and Prevention
[Read article] [Read key findings]

Assessment of Current Practices and Feasibility of Routine Screening for Critical Congenital Heart Defects - Georgia, 2012
Morbidity and Mortality Weekly Report; 2013; 62:288-91
Centers for Disease Control and Prevention
[Read article] [Read key findings]

Newborn Screening for Critical Congenital Heart Disease: Potential Roles of Birth Defects Surveillance Programs—United States, 2010-2011
Morbidity and Mortality Weekly Report; 2012; 61: 849-853
Centers for Disease Control and Prevention
[Read article] [Read key findings]


Newborn Screening for Critical Congenital Heart Disease: Essential Public Health Roles for Birth Defects Monitoring Programs
Birth Defects Research Part A: Clinical and Molecular Teratology. 2012; 94:965-969
Olney RS, Botto LD
[Read summary] [Read key findings]

Selected Birth Defects Data from Population-based Birth Defects Surveillance Programs in the United States, 2005-2009: Featuring Critical Congenital Heart Defects Targeted for Pulse Oximetry Screening
Birth Defects Research Part A: Clinical and Molecular Teratology. 2012; 94:970-983
Mai CT, Riehle-Colarusso T, O'Halloran A, Cragan JD, et al.
[Read summary] [Read key findings]

Improving Newborn Screening Follow-up in Pediatric Practices: Quality Improvement Innovation Network

Pediatrics; 2012; 130:e669-75
Hinton CF, Neuspiel DR, Gubernick RS, Geleske T, Healy J, Kemper AR, Lloyd-Puryear MA, Saul RA, Thompson BH, Kaye CI
[Read summary] [Read key findings]


CDC Grand Rounds: Newborn Screening and Improved Outcomes

Morbidity and Mortality Weekly Report; 2012;61:390-393
Howell RR, Terry S, Tait VF, Olney R, Hinton CF, Grosse S, Eichwald J, Cuthbert C, Popovic T, Glidewell J
[Read article]


Birth prevalence rates of newborn screening disorders in relation to screening practices in the United States

Journal of Pediatrics; 2011; 159:555-560
Hertzberg VS, Hinton CF, Therrell BF, Shapira SK
[Read summary]


Ethical Implications and Practical Considerations of Ethnically-Targeted Screening for Genetic Disorders: The Case of Hemoglobinopathy Screening

Ethnicity and Health; 2011; 16:377-388
Hinton CF, Grant A, Grosse SD
[Read summary]


What questions should newborn screening long-term follow-up be able to answer?: A statement of the United States Secretary for Health and Human Services’ Advisory Committee on Heritable Disorders in Newborns and Children

Genetics in Medicine; 2011; 13:861-865
Hinton CF, Feuchtbaum L, Kus CA, Kemper AR, Berry SA, Levy-Fisch J, Luedtke J, Kaye C, Boyle CA
[Read summary]


Maternal and Neonatal Vitamin B12 Deficiency Detected through Expanded Newborn Screening-United States, 2003-2007

Journal of Pediatrics; 2010; 157:162-163
Hinton CF, Ojodu JA, Fernhoff PM, Rasmussen SA, Scanlon KS, Hannon WH
[Read summary]


Prevalence of Congenital Hypothyroidism—Current Trends and Future Directions: Workshop Summary

Pediatrics; 2010; 125 (Supplement): S31-S36
Olney RS, Grosse, SD, Vogt, RF
[Read article]


Trends in Incidence Rates of Congenital Hypothyroidism Related to Select Demographic Factors: Data from the United States, California, Massachusetts, New York, and Texas

Pediatrics; 2010; 125 (Supplement): S37-S47
Hinton CF, Harris KB, Borgfeld L, Drummond-Borg M, Eaton R, Lorey F, Therrell BL, Wallace J, Pass KA
[Read article]
 


Future Research Directions to Identify Causes of the Increasing Incidence Rate of Congenital Hypothyroidism in the United States

Pediatrics; 2010; 125 (Supplement): S64-S68
Shapira SK, Lloyd-Puryear MA, Boyle C
[Read article]


Impact of Hurricane Katrina on Newborn Screening in Louisiana.

Pediatrics 2007;120:e749-e755
Lobato MN, Yanni E, Hagar A, Myers C, Rue A, Evans C, Lambert LA, Olney RS, for the Louisiana OPH–CDC Newborn Screening Assessment Team
[Read article]


The Epidemiology of Medium Chain Acyl-CoA Dehydrogenase Deficiency: An Update

Genetics in Medicine; 2006; 8:205-212
Grosse SD, Khoury MJ, Greene CL, Crider KS, Pollitt RJ
[Read summary]

When you click
“Read summary”


The link will take you to a short summary of the article. The full article is available to subscribers of the publication's service.


Storage and Use of Residual Dried Blood Spots from State Newborn Screening Programs

Journal of Pediatrics; 2006; 148:618-622
Olney RS, Moore CA, Ojodu JA, Lindegren ML, Hannon WH
[Read summary]


The Cost Effectiveness of Universal Versus Selective Newborn Screening for Sickle Cell Disease in the US and the UK: A Critique

Applied Health Economics and Health Policy; 2005; 4:239-247
Grosse SD, Olney RS, Baily MA
[Read summary]


Newborn Screening for Sickle Cell Disease: Public Health Impact and Evaluation

In: Khoury MJ, Burke W, Thomson E, editors. Genetics and public health in the 21st century: using genetic information to improve health and prevent disease; New York: Oxford University Press; 2000; 431-446
Olney RS
[Read chapter]


Barriers to Dietary Control Among Pregnant Women with Phenylketonuria — United States, 1998-2000

Morbidity and Mortality Weekly Report; 2002; 51:117-120
Fernhoff, PM, Singh R, Waisbren S, Rohr F, Frazier DM, Rasmussen SA, Kenneson AA, Honein MA, Gwinn ML, Brown AS, Morris JM, MacDonald P
[Read article]


Preventing Morbidity and Mortality from Sickle Cell Disease: A Public Health Perspective

American Journal of Preventive Medicine; 1999; 16:116-121
Olney RS
[Read summary]

Genetic and Environmental Factors and Birth Defects or Other Pregnancy Outcomes

Periconceptional maternal alcohol consumption and neural tube defects

Birth Defects Research Part A: Clinical and Molecular Teratology; 2013  [Epub ahead of print]
Makelarski JA, Romitti PA, Sun L, Burns TL, Druschel CM, Suarez L, Olshan AF, Siega-Riz AM, Olney RS; and the National Birth Defects Prevention Study
[Read Summary]

Maternal caffeine consumption and risk of congenital limb deficiencies

Birth Defects Research Part A: Clinical and Molecular Teratology; 2012; 94:1033-1043
Chen L, Bell EM, Browne ML, Druschel CM, Romitti PA, Schmidt RJ, Burns TL, Moslehi R, Olney RS, and the National Birth Defects Prevention Study
[Read Summary]


Paternal occupation and birth defects: findings from the National Birth Defects Prevention Study

Occupational and Environmental Medicine 2012;69:534-542
Desrosiers TA, Herring AH, Shapira SK, Hooiveld M, Luben TJ, Herdt-Losavio ML, Lin S, Olshan AF; the National Birth Defects Prevention Study
[Read summary]


Association between maternal age and birth defects of unknown etiology - United States, 1997-2007

Birth Defects Research Part A: Clinical and Molecular Teratology; 2012; 94:1010-1018
Gill SK, Broussard C, Devine O, Green RF, Rasmussen SA, Reefhuis J; and the National Birth Defects Prevention Study
[Read summary]


Nutritional factors and hypospadias risks

Paediatric and Perinatal Epidemiology; 2012; 26:353-360
Carmichael SL, Ma C, Feldkamp ML, Munger RG, Olney RS, Botto LD, Shaw GM, Correa A
[Read summary]


Folate and DNA Methylation: A Review of Molecular Mechanisms and the Evidence for Folate's Role

Advances in Nutrition; 2012; 3: 21–38
Crider KS, Yang TP, Berry RJ, Bailey LB
[Read summary]
 


Maternal Asthma Medication Use and the Risk of Selected Birth Defects

Pediatrics; 2012; 129: e317-324
Lin S, Munsie JPW, Herdt-Losavio ML, Druschel CM, Campbell K, Browne ML, Romitti PA, Olney RS, Bell EM, and the National Birth Defects Prevention Study
[Read summary]


Genomic DNA Methylation Changes in Response to Folic Acid Supplementation in a Population-based Intervention Study among Women of Reproductive Age

Public Library of Science ONE; 2011; 6: e28144
Crider KS, Quinlivan EP, Berry RJ, Hao L, Li Z, Maneval D, Yang TP, Rasmussen SA, Yang Q, Zhu J-H, Hu DJ, Bailey LB
[Read summary]


Maternal Occupational Pesticide Exposure and Risk of Hypospadias in the National Birth Defects Prevention Study

Birth Defects Research Part A: Clinical and Molecular Teratology; 2011; 91:927-936
Rocheleau CM, Romitti PA, Sanderson WT, Sun L, Waters MA, Stewart PA, Reefhuis J, Olney RS, Lawson CC
[Read summary]


Spina Bifida Subtypes and Sub-phenotypes by Maternal Race/Ethnicity in the National Birth Defects Prevention Study

American Journal of Medical Genetics A; 2011
Agopian AJ, Canfield MA, Olney RS, Lupo PJ, Ramadhani T, Mitchell LE, Shaw GM, Moore CA, and the National Birth Defects Prevention Study
[Read summary]


Letter to the editor: Ventricular septal defects and the National Birth Defects Prevention Study

Birth Defects Research Part A: Clinical and Molecular Teratology; 2011; 91:66
Rasmussen SA, Riehle-Colarusso T, Shapira SK, Honein MA, Reefhuis J, and the National Birth Defects Prevention Study
[Read summary]


Bladder exstrophy: An epidemiologic study from the International Clearinghouse for Birth Defects Surveillance and Research, and an overview of the literature

American Journal of Medical Genetics C; 2011; 157C:321-332
Siffel C, Correa A, Amar E, Bakker MK, Bermejo-Sánchez E, Bianca S, Castilla EE, Clementi M, Cocchi G, Csáky-Szunyogh M, Feldkamp ML, Landau D, Leoncini E, Li Z, Lowry RB, Marengo LK, Mastroiacovo P, Morgan M, Mutchinick OM, Pierini A, Rissmann A, Ritvanen A, Scarano G, Szabova E, Olney RS
[Read summary]


Methylenetetrahydrofolate reductase 677C→T genotype is associated with folate and homocysteine concentration in a large population-based double-blind trial of folic acid supplementation

American Journal of Clinical Nutrition; 2011;93:1365-72
Crider KS, Zhu J-H, Hao L, Yang Q-H, Gindler J, Maneval DR, Yang TP, Quinlivan EP, Li Z, Bailey LB, Berry RJ
[Read summary]


Folic Acid Food Fortification—Its History, Effect, Concerns, and Future Directions

Nutrients; 2011; 3:370-384
Crider KS, Bailey LB, Berry RJ
[Read article]


Defying birth defects through diet?

Genome Medicine; 2011; 3:9
Crider KS, Bailey LB
[Read summary]


Population-based surveillance for rare congenital and inherited disorders: models and challenges

Advances in Experimental Medicine and Biology; 2010; 686:133-510
Jackson JM, Crider KS, Olney RS
[Read summary]


Maternal self-reported genital tract infections during pregnancy and the risk of selected birth defects

Birth Defects Research Part A: Clinical and Molecular Teratology; 2011; 91:108-116
Carter TC, Olney RS, Mitchell AA, Romitti PA, Bell EM, Druschel CM, and the National Birth Defects Prevention Study
[Read summary]


Caffeine, Selected Metabolic Gene Variants, and Risk for Neural Tube Defects

Birth Defects Research Part A: Clinical and Molecular Teratology; 2010; 88:560-569
Schmidt RJ, Romitti PA, Burns TL, Murray JC, Browne ML, Druschel CM, Olney RS and the National Birth Defects Prevention Study
[Read summary]


Association of Paternal Age and Risk for Major Congenital Anomalies from the National Birth Defects Prevention Study, 1997 to 2004

Annals of Epidemiology; 2010; 20:241-249
Green RF, Devine O, Crider KS, Olney RS, Archer N, Olshan AF, Shapira SK, The National Birth Defects Prevention Study
[Read summary]


Antibacterial Medication Use During Pregnancy and Risk of Birth Defects: National Birth Defects Prevention Study

Archives of Pediatric and Adolescent Medicine; 2009; 163:978-985
Crider KS, Cleves MA, Reefhuis J, Berry RJ, Hobbs CA, Hu DJ
[Read summary]


Maternal Nutrient Intake and Risks for Transverse and Longitudinal Limb Deficiencies: Data from the National Birth Defects Prevention Study, 1997-2003

Birth Defects Research Part A: Clinical and Molecular Teratology; 2009, 85:773-779
Robitaille J, Carmichael SL, Shaw GM, Olney RS, The National Birth Defects Prevention Study
[Read summary]


Does the MTHFR 677C-->T Variant Affect the Recommended Dietary Allowance for Folate in the US Population?

American Journal of Clinical Nutrition; 2009; 89:1269-1273
Robitaille J, Hamner HC, Cogswell ME, Yang Q
[Read summary]


The Genetics of Gestational Diabetes Mellitus: Evidence for Relationship with Type 2 Diabetes Mellitus

Genetics in Medicine; 2008; 10:240-250
Robitaille J, Grant AM
[Read summary]


Birth Defects and Genetic Disorders Among Arab Americans—Michigan, 1992-2003

Journal of Immigrant and Minority Health; 2010; 12:408-413
Yanni EA, Copeland G, Olney RS
[Read summary]


Alcohol Dehydrogenase 1B Genotype and Fetal Alcohol Syndrome: A HuGE Minireview

American Journal of Obstetrics and Gynecology; 2007; 197:12-25
Fisk Green R, Stoler JM
[Read summary]


Incorporating Genetic Analyses into Birth Defects Cluster Investigations: Strategies for Identifying Candidate Genes

Birth Defects Research Part A: Clinical and Molecular Teratology; 2006; 76:
798-810
Fisk Green R, Moore CA
[Read summary]


Racial and Ethnic Disparity in Participation in DNA Collection at the Atlanta Site of the National Birth Defects Prevention Study

American Journal of Epidemiology; 2006; 164:805-812
Crider KS, Reefhuis J, Woomert A, Honein MA
[Read article]


Genetic Variation Associated with Preterm Birth: A HuGE Review

Genetics in Medicine; 2005; 7:593-604
Crider KS, Whitehead N, Buus RM
[Read summary]


A Population-Based Study of the 22q11.2 Deletion: Phenotype, Incidence, and Contribution to Major Birth Defects in the Population

Pediatrics; 2003; 112:101-107
Botto LD, May K, Fernhoff PM, Correa A, Coleman K, Rasmussen SA, Merritt RK, O'Leary LA, Wong LY, Elixson EM, Mahle WT, Campbell RM
[Read article]

Use of Family History Information in Pediatric Primary Care and Public Health

Use of family history information for neural tube defect prevention: integration into state-based recurrence prevention programs

American Journal of Health Education; 2011; 42:296-308
Fisk Green R, Ehrhardt J, Ruttenber M, Olney RS
[Read summary]


Family History in Public Health Practice: A Genomic Tool for Disease Prevention and Health Promotion.

Annual Review of Public Health; 2010; 31:69-87
Valdez R, Yoon PW, Qureshi N, Fisk Green R, Khoury MJ
[Read summary]
 


Prevalence, Family History, and Prevention of Reported Osteoporosis in U.S. Women

American Journal of Preventive Medicine; 2008; 35:47-54
Robitaille J, Yoon PW, Moore CA, Liu T, Irizarry-Delacruz M, Looker AC, Khoury MJ
[Read summary]


Maternal Reports of Family History from the National Birth Defects Prevention Study, 1997-2001

Genetics in Medicine; 2008; 10:37-45
Fisk Green R, Olney RS, Reefhuis J, Botto LD, Romitti PA
[Read summary]


Summary of Workgroup Meeting on Use of Family History Information in Pediatric Primary Care and Public Health

Pediatrics; 2007; 120(Supplement 2):S87-100
Fisk Green R
[Read article]


Role of Family Medical History Information in Pediatric Primary Care and Public Health: Introduction

Pediatrics; 2007; 120(Supplement 2):S57-S59
Olney RS, Yoon PW
[Read article]

Long-Term Outcomes for Pediatric Genetic Conditions

Periconceptional folic acid and risk of autism spectrum disorders

JAMA; 2013; 309:611-613
Berry RJ, Crider KS, Yeargin-Allsopp M
[Read summary]


Evaluation of immunization rates and safety among children with inborn errors of metabolism

Pediatrics; 2011; 127:e1139-e1146
Klein NP, Aukes L, Lee J, Fireman B, Shapira SK, Slade B, Baxter R, Summar M
[Read summary]


Health Status and Healthcare Use in a National Sample of Children with Sickle Cell Disease

American Journal of Preventive Medicine; 2010;38(4 Suppl):S528–S535
Boulet SL, Yanni EA, Creary MS, Olney RS
[Read summary]

Prevalence of Developmental Disabilities and Receipt of Special Education Services among Children with an Inborn Error of Metabolism

Journal of Pediatrics 2010;156:420-426
Powell K, Van Naarden Braun K, Singh R, Shapira SK, Olney RS, Yeargin-Allsopp M
[Read summary]

Use of special education services among children with and without congenital gastrointestinal anomaliess

American Journal on Intellectual and Developmental Disabilites; 2010; 115: 421-432
Hamrick S, Strickland, MJ, Shapira SK, Autry A, Schendel D
[Read summary]

Long-term speech and language developmental issues among children with Duarte galactosemia
Genetics in Medicine; 2009; 11:874-879
Powell KK, van Naarden Braun K., Singh RH, Shapira SK, Olney RS, and Yeargin-Allsopp M
[Read summary]

Trends in Pediatric Sickle Cell Disease-Related Mortality in the United States, 1983-2002

Journal of Pediatrics; 2009; 154:541-545
Yanni E, Grosse SD, Yang Q, Olney RS
[Read summary]


Delayed Diagnosis of Fragile X Syndrome — United States, 1990-1999

Morbidity and Mortality Weekly Report; 2002; 51:740-742
Bailey DB, Skinner D, Sparkman K, Moore CA, Olney RS, Crawford DC
[Read article]


Mortality Associated with Down's Syndrome in the USA from 1983 to 1997: A Population-Based Study

Lancet; 2002; 359:1019-1025
Yang Q, Rasmussen SA, Friedman JM
[Read summary]


Contribution of Birth Defects and Genetic Diseases to Pediatric Hospitalizations: A Population-Based Study

Archives of Pediatrics and Adolescent Medicine; 1997; 151:1096-1103
Yoon PW, Olney RS, Khoury MJ, Sappenfield WM, Chavez GF, Taylor D
[Read summary]


Trends and Patterns of Mortality Associated with Birth Defects and Genetic Diseases in the United States, 1979-1992: An Analysis of Multiple-Cause Mortality Data

Genetic Epidemiology; 1997; 14:493-505
Yang Q, Khoury MJ, Mannino D
[Read summary]

Prenatal Genetic Testing and Birth Defects

Trends in Cytogenetic Testing and Identification of Chromosomal Abnormalities among Pregnancies and Children with Birth Defects, Metropolitan Atlanta, 1968–2005

American Journal of Medical Genetics Part A; 2011
Jackson JM, Crider KS, Rasmussen SA, Cragan JD, Olney, RS
[Read summary]


Trisomies 13 and 18: Population Prevalences, Characteristics, and Prenatal Diagnosis, Metropolitan Atlanta, 1994-2003

American Journal of Medical Genetics A; 2008; 146:820-826
Crider KS, Olney RS, Cragan JD
[Read summary]


Genetic Risks to the Mother and the Infant: Assessment, Counseling, and Management

Maternal Child Health Journal; 2006; 10:S143-S146
Shapira, S.K. and Dolan, S
[Read article]


Increased Risk for Transverse Digital Deficiency After Chorionic Villus Sampling: Results of the United States Multistate Case-Control Study, 1988-1992

Teratology; 1995; 51:20-29
Olney RS, Khoury MJ, Alo CJ, Costa P, Edmonds LD, Flood TJ, Harris JA, Howe HL, Moore CA, Olsen CL, Panny SR, Shaw GM
[Read summary]

All CDC Articles

Search a database of articles that have been published by CDC authors within the National Center on Birth Defects and Developmental Disabilities from 1990 to present.

 

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