Newborn Screening (Print Version)

Newborn screening tests take place before your newborn leaves the hospital. Babies are tested to identify serious or life-threatening conditions before symptoms begin. Such diseases are usually rare. However, they can affect a baby's normal physical and mental development.

Most tests use a few drops of blood from pricking the baby's heel. A hearing test involves placing a tiny earphone in the baby's ear and measuring his or her response to sound.

If a screening test suggests a problem, your baby's doctor will follow up with further testing. If those tests confirm a problem, the doctor may refer you to a specialist for treatment. Following your doctor's treatment plan can save your baby from lifelong health and developmental problems.

Start Here

Newborn Screening(Patient Education Institute) - Requires Flash Player - http://www.nlm.nih.gov/medlineplus/tutorials/newbornscreening/htm/index.htm
Also available in Spanish http://www.nlm.nih.gov/medlineplus/spanish/tutorials/newbornscreeningspanish/htm/index.htm
Newborn Screening Tests(Nemours Foundation) - http://kidshealth.org/parent/system/medical/newborn_screening_tests.html
Newborn Screening Tests(March of Dimes Birth Defects Foundation) - http://www.marchofdimes.com/pnhec/298_834.asp
Also available in Spanish http://www.nacersano.org/centro/9256_9689.asp

Overviews

These Tests Could Save Your Baby's Life(Maternal and Child Health Bureau) - http://mchb.hrsa.gov/programs/genetics/committee/nbsbrochure.htm

Specific Conditions

Has Your Baby's Hearing Been Screened?(National Institute on Deafness and Other Communication Disorders) - http://www.nidcd.nih.gov/health/hearing/screened.asp
Also available in Spanish http://www.nidcd.nih.gov/health/spanish/screen_span.asp
Newborn Screening for Cystic Fibrosis(Cystic Fibrosis Foundation) - http://www.cff.org/AboutCF/Testing/NewbornScreening/
Recommended Newborn Screening Tests: 29 Disorders(March of Dimes Birth Defects Foundation) - http://www.marchofdimes.com/professionals/14332_15455.asp

Related Issues

Disease Descriptions(Save Babies Through Screening Foundation) - http://www.savebabies.org/diseasedescriptions.php
Layperson's Guide to Tandem Mass Spectrometry and Newborn Screening(Save Babies Through Screening Foundation) - http://www.savebabies.org/NBS/msms-chace.php
National Newborn Screening Status Reports(National Newborn Screening and Genetics Resource Center) - Links to PDF - http://genes-r-us.uthscsa.edu/nbsdisorders.pdf
Newborn Screening (NBS): Answers to Frequently Asked Questions(Save Babies Through Screening Foundation) - http://www.savebabies.org/NBS/faq.php
What Is the Apgar Score?(Nemours Foundation) - http://kidshealth.org/parent/newborn/first_days/apgar.html
Also available in Spanish http://kidshealth.org/parent/pregnancy/espanol/apgar_esp.html
Where to Get Supplemental Screening(Save Babies Through Screening Foundation) - http://www.savebabies.org/NBS/snbs.php

Tutorials

Newborn Screening(Patient Education Institute) - Requires Flash Player - http://www.nlm.nih.gov/medlineplus/tutorials/newbornscreening/htm/index.htm
Also available in Spanish http://www.nlm.nih.gov/medlineplus/spanish/tutorials/newbornscreeningspanish/htm/index.htm

Financial Issues

Newborn Screening Packets for Parents(Save Babies Through Screening Foundation) - http://www.savebabies.org/NBS/packetsforparents.php

Clinical Trials

ClinicalTrials.gov: Neonatal Screening(National Institutes of Health) - http://clinicaltrials.gov/search/open/condition=%22Neonatal+Screening%22

Genetics

Genetics Home Reference: 2-methylbutyryl-coenzyme A dehydrogenase deficiency(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=2methylbutyrylcoenzymeadehydrogenasedeficiency
Genetics Home Reference: 21-hydroxylase deficiency(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=21hydroxylasedeficiency
Genetics Home Reference: 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=3hydroxy3methylglutarylcoenzymealyasedeficiency
Genetics Home Reference: 3-hydroxyacyl-coenzyme A dehydrogenase deficiency(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=3hydroxyacylcoenzymeadehydrogenasedeficiency
Genetics Home Reference: 3-methylcrotonyl-coenzyme A carboxylase deficiency(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=3methylcrotonylcoenzymeacarboxylasedeficiency
Genetics Home Reference: Arginase deficiency(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=arginasedeficiency
Genetics Home Reference: Argininosuccinic aciduria(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=argininosuccinicaciduria
Genetics Home Reference: Beta-ketothiolase deficiency(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=betaketothiolasedeficiency
Genetics Home Reference: Biotinidase deficiency(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=biotinidasedeficiency
Genetics Home Reference: Carbamoyl phosphate synthetase I deficiency(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=carbamoylphosphatesynthetaseideficiency
Genetics Home Reference: Carnitine palmitoyltransferase I deficiency(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=carnitinepalmitoyltransferaseideficiency
Genetics Home Reference: Carnitine palmitoyltransferase II deficiency(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=carnitinepalmitoyltransferaseiideficiency
Genetics Home Reference: Carnitine-acylcarnitine translocase deficiency(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=carnitineacylcarnitinetranslocasedeficiency
Genetics Home Reference: Citrullinemia(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=citrullinemia
Genetics Home Reference: Congenital hypothyroidism(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=congenitalhypothyroidism
Genetics Home Reference: Cystic fibrosis(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=cysticfibrosis
Genetics Home Reference: Ethylmalonic encephalopathy(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=ethylmalonicencephalopathy
Genetics Home Reference: Galactosemia(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=galactosemia
Genetics Home Reference: Glucose-6-phosphate dehydrogenase deficiency(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=glucose6phosphatedehydrogenasedeficiency
Genetics Home Reference: Glutaric acidemia type I(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=glutaricacidemiatypei
Genetics Home Reference: Glutathione synthetase deficiency(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=glutathionesynthetasedeficiency
Genetics Home Reference: Glycine encephalopathy(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=glycineencephalopathy
Genetics Home Reference: Holocarboxylase synthetase deficiency(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=holocarboxylasesynthetasedeficiency
Genetics Home Reference: Homocystinuria(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=homocystinuria
Genetics Home Reference: Hypermethioninemia(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=hypermethioninemia
Genetics Home Reference: Hyperprolinemia(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=hyperprolinemia
Genetics Home Reference: Isovaleric acidemia(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=isovalericacidemia
Genetics Home Reference: Krabbe disease(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=krabbedisease
Genetics Home Reference: Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=longchain3hydroxyacylcoenzymeadehydrogenasedeficiency
Genetics Home Reference: Malonyl-coenzyme A decarboxylase deficiency(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=malonylcoenzymeadecarboxylasedeficiency
Genetics Home Reference: Maple syrup urine disease(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=maplesyrupurinedisease
Genetics Home Reference: Medium-chain acyl-coenzyme A dehydrogenase deficiency(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=mediumchainacylcoenzymeadehydrogenasedeficiency
Genetics Home Reference: Methylmalonic acidemia(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=methylmalonicacidemia
Genetics Home Reference: Mitochondrial trifunctional protein deficiency(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=mitochondrialtrifunctionalproteindeficiency
Genetics Home Reference: Ornithine translocase deficiency(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=ornithinetranslocasedeficiency
Genetics Home Reference: Phenylketonuria(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=phenylketonuria
Genetics Home Reference: Primary carnitine deficiency(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=primarycarnitinedeficiency
Genetics Home Reference: Propionic acidemia(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=propionicacidemia
Genetics Home Reference: Pyruvate carboxylase deficiency(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=pyruvatecarboxylasedeficiency
Genetics Home Reference: Short-chain acyl-coenzyme A dehydrogenase deficiency(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=shortchainacylcoenzymeadehydrogenasedeficiency
Genetics Home Reference: Sickle cell disease(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=sicklecelldisease
Genetics Home Reference: Tyrosinemia(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=tyrosinemia
Genetics Home Reference: Very long-chain acyl-coenzyme A dehydrogenase deficiency(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=verylongchainacylcoenzymeadehydrogenasedeficiency

Journal Articles

References and abstracts from MEDLINE/PubMed (National Library of Medicine)

Article: Parental tolerance of false-positive newborn screening results. - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=pubmed&dopt=AbstractPlus&list_uids=18762606&tool=MedlinePlus
Article: Cystic fibrosis: newborn screening in America. - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=pubmed&dopt=AbstractPlus&list_uids=18717498&tool=MedlinePlus
Article: Mitochondrial fatty-acid oxidation disorders. - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=pubmed&dopt=AbstractPlus&list_uids=18708005&tool=MedlinePlus
Newborn Screening -- see more articles - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=search&db=pubmed&term=neonatal+screening[majr]+AND+english[la]+AND+(jsubsetk[text]+OR+review[pt]+OR+guideline[pt]+OR+clinical+trial[pt]+OR+jsubsetn[text]+OR+jsubsetaim[text]+OR+patient+education+handout[pt])+NOT+(letter[pt]+OR+editorial[pt]+OR+case+reports[pt])&doptcmdl=summary&cmd_current=Limits&pmfilter_EDatLimit=last+1+Year&tool=MedlinePlus

Dictionaries/Glossaries

Glossary(University of Washington) - http://www.genetests.org/servlet/access?qry=ALLTERMS&db=genestar&fcn=term>report2=true&id=8888891&key=gSBBKquWNdW6m

Directories

Laboratory Directory-GeneReviews(University of Washington) - http://www.genetests.org/servlet/access?id=8888891&key=xW0l31Z2a4hTc&fcn=y&fw=XPF9&filename=/labsearch/searchdztest.html
State Map Page(National Newborn Screening and Genetics Resource Center) - http://genes-r-us.uthscsa.edu/resources/consumer/statemap.htm

Organizations

March of Dimes Birth Defects Foundation - http://www.marchofdimes.com/
Also available in Spanish http://www.nacersano.org/
National Human Genome Research Institute - http://www.genome.gov/
National Institute of Child Health and Human Development - http://www.nichd.nih.gov/
Save Babies through Screening Foundation - http://www.savebabies.org/

You may also be interested in these MedlinePlus related pages:

Genetic Testing - http://www.nlm.nih.gov/medlineplus/genetictesting.html
Phenylketonuria - http://www.nlm.nih.gov/medlineplus/phenylketonuria.html
Children and Teenagers - http://www.nlm.nih.gov/medlineplus/childrenandteenagers.html
Genetics/Birth Defects - http://www.nlm.nih.gov/medlineplus/geneticsbirthdefects.html

The primary NIH organization for research on Newborn Screening is the National Institute of Child Health and Human Development - http://www.nichd.nih.gov/

Newborn Screening - Multiple Languages - http://www.nlm.nih.gov/medlineplus/languages/newbornscreening.html