Important: This page is general information, not medical advice. It does not recommend or prescribe any treatment. Always consult your doctor or pharmacist before starting, stopping or changing any medicine.
About Newborn Screening
Your newborn infant has screening tests before leaving the hospital. There may be different tests depending on the state where you live. They include:
- Tests on a few drops of blood from pricking the baby's heel. The tests look for inherited disorders. All states test for at least 30 of these conditions.
- A hearing test that measures the baby's response to sound
- A skin test that measures the level of oxygen in the blood. This can tell if the baby has a congenital heart defect.
These tests look for serious medical conditions. If not treated, some of these conditions can cause lifelong health problems. Others can cause early death. With early diagnosis, treatment can begin right away, before serious problems can occur or become permanent.
If a screening shows that your baby might have a condition, the health care provider or the state health department will call you. It is important to follow up quickly. Further testing can verify whether your baby has the condition. If so, treatment should start right away.
It sits within Children and Teenagers and Genetics/Birth Defects.
The lead U.S. institute for this subject is the Eunice Kennedy Shriver National Institute of Child Health and Human Development.
When to speak to someone. Reading about a topic cannot tell you whether it applies to you. Speak to a doctor or pharmacist if symptoms are severe, sudden, getting worse, or simply not going away — and seek emergency care immediately for chest pain, breathing difficulty, sudden weakness or confusion, or a serious allergic reaction.
Research on Newborn Screening
519 studies areregistered for this condition on ClinicalTrials.gov, the U.S. National Library of Medicine's public registry. A selection is below — the links go straight to the registry entry, not to a summary of ours.
What a registered study does and does not mean. Registration means a study exists and has been declared publicly. It says nothing about whether the treatment being tested works, is safe, or is available to you. Many studies find no benefit — that is what research is for. Never seek out an experimental treatment on the strength of a registry entry alone.
Research currently under way
- Experience and Management of Cancer Screening-Related Anxiety in Fanconi AnemiaNational Cancer Institute (NCI)
- Screening Protocol for Genetic Diseases of Lymphocyte Homeostasis and Programmed Cell DeathNational Institute of Allergy and Infectious Diseases (NIAID)
- Clinical Genetics Branch Eligibility Screening SurveyNational Cancer Institute (NCI)
- Detection and Characterization of Infections and Infection SusceptibilityNational Institute of Allergy and Infectious Diseases (NIAID)
- ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening ProgramAlbert Einstein College of Medicine
- Blood Sampling for Research Related to Sickle Cell DiseaseNational Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Research already completed
- The Effect of Emotional Freedom Technique on Parents' Anxiety Level: Newborn Hearing ScreeningAbant Izzet Baysal University
- Screening Protocol for Genetic Diseases of Allergic InflammationNational Institute of Allergy and Infectious Diseases (NIAID)
- Developing the Family Map: Looking at Communal CopingNational Human Genome Research Institute (NHGRI)
Study data from ClinicalTrials.gov, a service of the U.S. National Library of Medicine. Retrieved 2026-07-30. Registry entries are supplied by study sponsors and investigators; ClinicalTrials.gov does not verify their scientific validity. PocketsInfo is not affiliated with, and not endorsed by, the NLM or the NIH.
Where to read more
Rather than paraphrase, we point you to the primary sources. Every link below is to a government health agency, a national institute or a recognised medical body — grouped by what you are trying to find out.
Genetics
- 21-hydroxylase deficiency: MedlinePlus GeneticsNational Library of Medicine
- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency: MedlinePlus GeneticsNational Library of Medicine
- 3-hydroxyacyl-CoA dehydrogenase deficiency: MedlinePlus GeneticsNational Library of Medicine
- 3-methylcrotonyl-CoA carboxylase deficiency: MedlinePlus GeneticsNational Library of Medicine
- 3-methylglutaconyl-CoA hydratase deficiency: MedlinePlus GeneticsNational Library of Medicine
- Adenosine deaminase deficiency: MedlinePlus GeneticsNational Library of Medicine
- Alpha thalassemia: MedlinePlus GeneticsNational Library of Medicine
- Arginase deficiency: MedlinePlus GeneticsNational Library of Medicine
- Argininosuccinic aciduria: MedlinePlus GeneticsNational Library of Medicine
- Barth syndrome: MedlinePlus GeneticsNational Library of Medicine
- Beta thalassemia: MedlinePlus GeneticsNational Library of Medicine
- Beta-ketothiolase deficiency: MedlinePlus GeneticsNational Library of Medicine
- Biotinidase deficiency: MedlinePlus GeneticsNational Library of Medicine
- Carnitine palmitoyltransferase I deficiency: MedlinePlus GeneticsNational Library of Medicine
- Carnitine palmitoyltransferase II deficiency: MedlinePlus GeneticsNational Library of Medicine
- Carnitine-acylcarnitine translocase deficiency: MedlinePlus GeneticsNational Library of Medicine
- Citrullinemia: MedlinePlus GeneticsNational Library of Medicine
- Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: MedlinePlus GeneticsNational Library of Medicine
- Congenital hypothyroidism: MedlinePlus GeneticsNational Library of Medicine
- Costeff syndrome: MedlinePlus GeneticsNational Library of Medicine
- Critical congenital heart disease: MedlinePlus GeneticsNational Library of Medicine
- Cystic fibrosis: MedlinePlus GeneticsNational Library of Medicine
- Dilated cardiomyopathy with ataxia syndrome: MedlinePlus GeneticsNational Library of Medicine
Clinical Trials
- ClinicalTrials.gov: Neonatal ScreeningNational Institutes of Health
Medical subject headings
Clinicians and researchers index this subject under Neonatal Screening. These are the terms to use when searching medical literature.
This page is built from the MedlinePlus health topic record for Newborn Screening, a service of the U.S. National Library of Medicine (NLM), National Institutes of Health. Information is from MedlinePlus.gov. PocketsInfo is not affiliated with, and is not endorsed by, the NLM or the NIH. Retrieved 30 July 2026.