# Newborn Screening: Purpose, Process, and What It Detects

## What Is Newborn Screening?

Newborn screening is a public health program that tests nearly all babies shortly after birth for a panel of genetic, metabolic, and congenital conditions. The goal is not to diagnose every possible disease but to identify specific treatable disorders before symptoms appear, when intervention can prevent death, disability, or serious illness. In most developed countries, newborn screening reaches over 99% of live births, making it one of the most successful public health interventions of the twentieth century.

The core logic is simple: some conditions cause irreversible damage within days or weeks of birth, often before a clinician would notice anything wrong. By measuring biochemical markers or physiological parameters in the first days of life, screening programs can flag babies who need confirmatory testing and early treatment. The conditions screened are chosen because they are serious, relatively common, and—critically—amenable to intervention.

### A Brief History of Newborn Screening

The field began in the early 1960s with the work of Robert Guthrie, who developed a bacterial inhibition assay for phenylketonuria (PKU), an inborn error of metabolism that causes severe intellectual disability if untreated. Guthrie's method used a few drops of blood dried on filter paper—the "Guthrie card"—which could be mailed to a central laboratory. This simple innovation made mass screening feasible. Within a decade, PKU screening was mandated in most U.S. states and many other countries.

The next major advance came in the 1990s with the introduction of tandem mass spectrometry (MS/MS), a technology that could measure dozens of metabolites from a single blood spot in a few minutes. This expanded screening from one or two conditions to fifty or more, including many fatty acid oxidation disorders, organic acidemias, and amino acidopathies. Today, screening panels vary by jurisdiction but typically include 30 to 60 conditions. The evolution continues with the addition of DNA-based assays, which can detect specific pathogenic variants in genes such as *CFTR* (cystic fibrosis) and *SMN1* (spinal muscular atrophy).

### Why Screen Newborns?

The rationale rests on a simple observation: for many metabolic and genetic disorders, early treatment dramatically changes outcomes, while delayed treatment leads to irreversible damage. In PKU, for example, elevated phenylalanine levels in the first weeks of life cause progressive brain damage. A baby with PKU appears normal at birth; by six months, without dietary restriction, severe intellectual disability is likely. Screening at 24 to 48 hours of age, followed by a phenylalanine-restricted diet, allows normal cognitive development.

The same principle applies across the panel. Congenital hypothyroidism, if untreated, causes growth failure and intellectual disability; treatment with levothyroxine within the first two weeks of life results in normal development. Severe combined immunodeficiency (SCID), a condition where babies have no functional immune system, is fatal within the first year without treatment; early bone marrow transplantation saves lives. Newborn screening exists because the window for effective intervention is narrow, and symptoms are silent during that window.

## The Purpose of Newborn Screening

The primary purpose of newborn screening is early detection to prevent death, disability, or serious illness. This operates at three levels: the individual baby, the family, and the population.

For the individual baby, screening identifies conditions before symptoms emerge. This is critical because many screened disorders cause damage that is irreversible once clinical signs appear. For example, in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, a fatty acid oxidation disorder, a prolonged fast during an intercurrent illness can trigger a metabolic crisis with hypoglycemia, seizures, and sudden death. If the condition is known, parents can ensure regular feeding and avoid fasting, preventing crises entirely.

For the family, screening provides information. A positive screen triggers confirmatory testing and, if confirmed, genetic counseling. Parents learn about recurrence risks for future pregnancies and can make informed reproductive decisions. For conditions like cystic fibrosis, early diagnosis allows families to access specialized care and support services before complications develop.

At the population level, newborn screening provides epidemiological data on the incidence of rare diseases. This information guides public health planning, research priorities, and the development of new therapies. It also ensures equity: because screening is universal, all babies have the same chance of early detection regardless of family income, geography, or physician awareness.

A secondary purpose is parental reassurance. A normal screening result provides early confirmation that the baby does not have any of the screened conditions. This is not a guarantee of health—screening covers a limited panel—but it does rule out specific, serious disorders.

## How Newborn Screening Works

The process follows a standardized pathway from collection to result, typically completed within two weeks of birth.

### The Heel Prick and Blood Spot Collection

The blood sample is collected between 24 and 72 hours after birth, usually before the baby leaves the hospital. The timing matters: some metabolites, such as phenylalanine in PKU, rise only after the baby has begun feeding, so testing too early risks false negatives. Testing too late risks missing the treatment window.

The procedure is straightforward. The baby's heel is warmed to increase blood flow, then pricked with a sterile lancet. A few drops of blood—typically five to eight spots, each about 50 microliters—are applied to a specialized filter paper card. Each spot is allowed to saturate the paper completely; under-filling or layering blood produces unreliable results. The card is labeled with the baby's identifying information, allowed to dry for at least three hours at room temperature, and then mailed to a regional laboratory.

The dried blood spot is remarkably stable. Analytes remain measurable for weeks or months at room temperature, and the card can be stored for years for quality assurance or retrospective studies. This stability is what made the Guthrie card revolutionary and why dried blood spots remain the standard collection method today.

### Laboratory Analysis and Follow-Up

At the laboratory, a 3.2-millimeter punch is taken from each blood spot and placed into a well of a microtiter plate. The analytes are extracted with a solvent—typically 80% methanol containing isotopically labeled internal standards—and analyzed by tandem mass spectrometry. The entire process, from punch to result, takes about two to three minutes per sample.

Abnormal results are not diagnoses. They trigger a repeat test or a confirmatory diagnostic test, depending on the condition and the degree of abnormality. For example, an elevated phenylalanine level on screening is followed by quantitative plasma amino acid analysis and, if confirmed, genetic testing for mutations in the *PAH* gene. The family is contacted immediately, and a metabolic specialist coordinates confirmatory testing and treatment initiation.

The follow-up system is designed for speed. For conditions like MCAD deficiency or galactosemia, where a single metabolic crisis can be fatal, the laboratory calls the baby's physician the same day the abnormal result is generated. For less urgent conditions, follow-up occurs within days. Every positive screen is tracked to ensure that confirmatory testing is completed and that affected babies enter treatment.

## Types of Newborn Screening Tests

Newborn screening is not a single test but a battery of assays grouped into three main categories: blood spot tests, hearing screening, and pulse oximetry screening for critical congenital heart disease.

### Blood Spot Screening

The dried blood spot is used for the largest group of tests. These fall into several subcategories:

- **Metabolic disorders**: Amino acid disorders (e.g., PKU, maple syrup urine disease), organic acidemias (e.g., propionic acidemia, methylmalonic acidemia), and fatty acid oxidation disorders (e.g., MCAD deficiency, very long-chain acyl-CoA dehydrogenase deficiency).
- **Endocrine disorders**: Congenital hypothyroidism and congenital adrenal hyperplasia (CAH).
- **Hemoglobin disorders**: Sickle cell disease and other hemoglobinopathies.
- **Other conditions**: Cystic fibrosis, SCID, spinal muscular atrophy, and biotinidase deficiency.

The exact panel varies by jurisdiction. The U.S. Recommended Uniform Screening Panel (RUSP) includes 35 core conditions and 26 secondary conditions, but individual states may screen for more or fewer.

### Hearing Screening

Hearing screening is performed using one of two physiological tests: otoacoustic emissions (OAEs) or auditory brainstem response (ABR). Both are noninvasive and take about five to ten minutes.

OAE testing measures sounds emitted by the outer hair cells of the cochlea in response to a click or tone. A small probe placed in the baby's ear delivers the stimulus and records the response. Absent OAEs suggest hearing loss, though the test can be affected by fluid in the middle ear or debris in the ear canal.

ABR testing measures electrical activity in the auditory nerve and brainstem in response to sound. Electrodes are placed on the baby's scalp, and clicks are delivered through earphones. ABR is more sensitive than OAE and can detect auditory neuropathy, a condition where the cochlea responds normally but the auditory nerve does not transmit signals properly.

Babies who fail the initial screening are rescreened within a few weeks. Those who fail twice are referred for comprehensive audiological evaluation. Early detection matters because children with hearing loss who receive intervention before six months of age develop language skills far better than those identified later.

### Pulse Oximetry Screening

Critical congenital heart disease (CCHD) refers to heart defects that require surgery or catheter intervention within the first year of life. Many of these defects cause low blood oxygen levels, even when the baby appears healthy. Pulse oximetry screening measures oxygen saturation using a sensor placed on the baby's right hand and either foot.

The test is performed after 24 hours of age. A saturation of 95% or greater in both readings, with a difference of less than 3% between the hand and foot, is considered normal. Lower values or a significant difference trigger a repeat test and, if abnormal again, echocardiography.

Pulse oximetry screening detects about 60 to 70% of CCHD cases that would otherwise be missed on physical examination. It does not detect all heart defects—some, like coarctation of the aorta, may have normal oxygen saturation—but it identifies the most dangerous ones early enough to prevent cardiovascular collapse.

## Conditions Detected by Newborn Screening

The conditions on newborn screening panels span multiple organ systems and pathophysiological mechanisms. What unites them is that early detection changes outcomes.

### Metabolic Disorders

**Phenylketonuria (PKU)** is caused by mutations in the *PAH* gene, which encodes phenylalanine hydroxylase, the enzyme that converts phenylalanine to tyrosine. Without this enzyme, phenylalanine accumulates in the blood and crosses the blood-brain barrier, where it interferes with myelin synthesis and neurotransmitter production. Untreated PKU causes severe intellectual disability, seizures, and behavioral problems. Treatment is a phenylalanine-restricted diet, started within the first weeks of life, which allows near-normal development. Screening measures blood phenylalanine; levels above 120 micromoles per liter are considered abnormal.

**Maple syrup urine disease (MSUD)** results from mutations in the branched-chain alpha-keto acid dehydrogenase complex, which breaks down leucine, isoleucine, and valine. Without this enzyme, these amino acids and their keto acids accumulate, causing encephalopathy, cerebral edema, and death if untreated. The name comes from the sweet, maple-syrup odor of the urine. Treatment involves dietary restriction of branched-chain amino acids and aggressive management of metabolic crises.

**Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency** is the most common fatty acid oxidation disorder, affecting about 1 in 15,000 births. MCAD is the enzyme that begins the breakdown of medium-chain fatty acids during fasting. Without it, fasting triggers hypoglycemia, vomiting, lethargy, and potentially sudden death. Treatment is simple: avoid prolonged fasting and ensure regular feeding, especially during illness. Screening measures acylcarnitine species, particularly octanoylcarnitine (C8), which is elevated in affected babies.

**Galactosemia** is caused by mutations in *GALT*, encoding galactose-1-phosphate uridylyltransferase. Affected babies cannot metabolize galactose, a sugar found in milk. Within days of feeding, they develop vomiting, diarrhea, liver failure, and *E. coli* sepsis. Treatment is a galactose-free diet, which resolves the acute symptoms but does not prevent all long-term complications, including speech and ovarian problems.

### Endocrine and Hemoglobin Disorders

**Congenital hypothyroidism** affects about 1 in 2,000 to 4,000 births. It results from thyroid dysgenesis (absent or ectopic thyroid gland) or dyshormonogenesis (defective thyroid hormone synthesis). Without thyroid hormone, brain development is severely impaired. Screening measures thyroxine (T4) and thyroid-stimulating hormone (TSH) from the blood spot. Treatment with oral levothyroxine, started within the first two weeks of life, results in normal cognitive outcomes in the vast majority of cases.

**Congenital adrenal hyperplasia (CAH)** is most commonly caused by 21-hydroxylase deficiency, due to mutations in *CYP21A2*. This enzyme is required for cortisol synthesis; its absence shunts steroid precursors toward androgens, causing virilization of female genitalia and, in severe cases, salt-wasting crises with hyponatremia, hyperkalemia, and shock. Screening measures 17-hydroxyprogesterone, which is markedly elevated in affected babies. Treatment involves glucocorticoid and mineralocorticoid replacement.

**Sickle cell disease** is caused by a single nucleotide substitution in the *HBB* gene, replacing glutamic acid with valine at position 6 of the beta-globin chain. This produces hemoglobin S, which polymerizes under low oxygen conditions, causing red blood cells to assume a sickle shape. Complications include vaso-occlusive pain crises, stroke, and susceptibility to pneumococcal sepsis. Screening identifies affected babies before symptoms appear, allowing prophylactic penicillin and pneumococcal vaccination to prevent life-threatening infections.

### Other Conditions

**Cystic fibrosis (CF)** is caused by mutations in *CFTR*, encoding the cystic fibrosis transmembrane conductance regulator, a chloride channel. Defective chloride transport leads to thick mucus in the lungs, pancreas, and other organs. Screening typically measures immunoreactive trypsinogen (IRT), which is elevated in affected newborns, followed by DNA analysis for common *CFTR* mutations. Early diagnosis allows pancreatic enzyme replacement, nutritional support, and airway clearance before irreversible lung damage occurs.

**Severe combined immunodeficiency (SCID)** comprises a group of genetic disorders causing absence of functional T lymphocytes. Babies with SCID appear normal at birth but develop severe, recurrent infections within months. Screening measures T-cell receptor excision circles (TRECs), DNA byproducts of T-cell development that are absent in affected babies. Early bone marrow transplantation, ideally before three months of age, results in survival rates above 90%.

**Spinal muscular atrophy (SMA)** is caused by homozygous deletion of *SMN1*, leading to progressive motor neuron loss. The most severe form, type I, causes death by two years of age without treatment. Screening uses DNA analysis to detect *SMN1* deletions. Early treatment with nusinersen (an [antisense oligonucleotide](/knowledge/molecular-biology/antisense-oligonucleotide)) or onasemnogene abeparvovec (a gene therapy) dramatically improves outcomes if started before symptoms appear.

## The Science Behind the Tests

The molecular basis of newborn screening varies by condition, but the underlying principle is the same: measure a biochemical marker that is abnormal in affected babies but normal in unaffected ones.

### Tandem Mass Spectrometry

Tandem mass spectrometry (MS/MS) is the workhorse of modern metabolic screening. The instrument consists of two mass analyzers separated by a collision cell. In the first analyzer, molecules are ionized and separated by mass-to-charge ratio. Selected ions are then fragmented in the collision cell, and the fragments are analyzed in the second [mass spectrometer](/knowledge/molecular-biology/mass-spectrometer).

For newborn screening, a dried blood spot punch is extracted with methanol containing isotopically labeled internal standards. These standards are chemically identical to the analytes of interest but contain heavy isotopes (e.g., deuterium or carbon-13), giving them a different mass. The extract is injected into the [mass spectrometer](/knowledge/molecular-biology/mass-spectrometer), which measures the abundance of specific acylcarnitines and amino acids.

The key advantage of MS/MS is multiplexing: a single run, lasting about two minutes, measures dozens of metabolites simultaneously. Amino acids are detected as their butyl ester derivatives, while acylcarnitines are detected as intact molecules. For each analyte, the ratio of the natural abundance to the isotopically labeled internal standard gives the concentration. Abnormal elevations or deficiencies of specific metabolites point to specific enzyme defects.

For example, in MCAD deficiency, octanoylcarnitine (C8) is elevated, and the ratio of C8 to decanoylcarnitine (C10) is increased. In PKU, phenylalanine is elevated, and the phenylalanine-to-tyrosine ratio is increased. In propionic acidemia, propionylcarnitine (C3) is elevated. The pattern of abnormalities, not any single value, guides the diagnostic workup.

### DNA-Based Testing

Some conditions cannot be detected by metabolite measurement. SCID, for example, produces no abnormal metabolite; the diagnosis requires detection of absent T cells. Screening for SCID uses real-time [polymerase chain reaction](/knowledge/molecular-biology/polymerase-chain-reaction) (PCR) to quantify TRECs, which are [circular DNA](/knowledge/molecular-biology/circular-dna) fragments generated during T-cell receptor rearrangement. Babies with SCID have very low or undetectable TREC levels.

DNA-based testing is also used as a second-tier test for conditions like cystic fibrosis. If IRT is elevated, the laboratory performs PCR to detect common *CFTR* mutations. This two-tier approach reduces false positives: only babies with both elevated IRT and a *CFTR* mutation are referred for confirmatory testing.

For spinal muscular atrophy, screening uses a PCR-based assay to detect homozygous deletion of *SMN1* exon 7. This is a direct genetic test rather than a biochemical marker. As gene therapies become available for more conditions, DNA-based screening is likely to expand.

## Evidence and Effectiveness

The evidence that newborn screening improves outcomes is among the strongest in preventive medicine. For several conditions, randomized trials are impossible—withholding screening would be unethical—so the evidence comes from comparing outcomes before and after screening was introduced, and between screened and unscreened populations.

### Proven Benefits

**PKU** provides the clearest example. Before screening, most children with PKU developed severe intellectual disability, with IQ scores typically below 50. After universal screening and dietary treatment, the average IQ of affected children is within the normal range, often indistinguishable from their unaffected siblings. The economic argument is equally compelling: the cost of screening and dietary treatment is a fraction of the cost of lifelong institutional care.

**Congenital hypothyroidism** shows a similar pattern. Before screening, affected children had average IQ scores about 20 points below their siblings. With early treatment, the cognitive deficit is largely eliminated, particularly when treatment begins within the first two weeks of life. Studies consistently show that the age at treatment initiation is the strongest predictor of cognitive outcome.

**MCAD deficiency** demonstrates the value of screening for conditions where the first symptom may be death. Before screening, up to 25% of affected children died during their first metabolic crisis. With screening and simple preventive measures—avoiding fasting—the mortality rate drops to near zero.

**Sickle cell disease** screening has reduced childhood mortality from pneumococcal sepsis by more than 90%, simply by ensuring that affected babies receive prophylactic penicillin from infancy.

### Wilson and Jungner Criteria

New conditions are not added to screening panels casually. In 1968, the World Health Organization commissioned James Wilson and Gunnar Jungner to define criteria for evaluating screening programs. Their ten principles remain the standard framework:

1. The condition should be an important health problem.
2. There should be an accepted treatment for patients with recognized disease.
3. Facilities for diagnosis and treatment should be available.
4. There should be a recognizable latent or early symptomatic stage.
5. There should be a suitable test or examination.
6. The test should be acceptable to the population.
7. The natural history of the condition, including development from latent to declared disease, should be adequately understood.
8. There should be an agreed policy on whom to treat as patients.
9. The cost of case-finding should be economically balanced in relation to possible expenditure on medical care as a whole.
10. Case-finding should be a continuing process and not a "once and for all" project.

These criteria explain why some conditions are screened and others are not. A condition like Huntington's disease, for which no preventive treatment exists, fails criterion 2 and is not screened. A condition like Duchenne muscular dystrophy, where early diagnosis has limited impact on outcomes, is debated. The criteria also explain why screening panels evolve: as treatments improve, conditions become eligible for screening.

## Common Misconceptions and Pitfalls

Newborn screening is highly reliable, but it is not perfect. Understanding its limitations is essential for interpreting results correctly.

### False Positives and False Negatives

A false positive occurs when screening suggests a condition that is not present. This happens for several reasons. Premature babies often have immature enzyme systems, producing abnormal metabolite levels that normalize with time. Babies who received total parenteral nutrition may have elevated amino acids. Contamination of the blood spot, improper drying, or delayed mailing can also produce abnormal results.

False positives are not harmless. They cause parental anxiety, require repeat testing, and sometimes lead to unnecessary diagnostic procedures. However, they are an accepted trade-off: screening tests are designed to maximize sensitivity (detecting true cases) at the cost of specificity (avoiding false alarms). The alternative—a more specific test—would miss cases, which is worse.

A false negative occurs when screening misses a condition that is present. This can happen if the blood sample was collected too early, before the metabolite rose to abnormal levels, or if the baby received a blood transfusion before sampling, which dilutes the baby's own blood. Some conditions, like certain forms of cystic fibrosis, may not be detected by the screening algorithm. False negatives are rare but not impossible.

### Screening vs. Diagnosis

A critical distinction: newborn screening is a screening test, not a diagnostic test. A positive screening result means "this baby needs further evaluation," not "this baby has the condition." Confirmatory testing—quantitative metabolite measurement, enzyme assays, or [DNA sequencing](/blog/guides/dna-sequencing)—is always required before a diagnosis is made and treatment is initiated.

This distinction matters because screening tests are intentionally oversensitive. The cutoff values are set to catch all true cases, accepting that some unaffected babies will be flagged. For example, the IRT cutoff for cystic fibrosis screening is set low enough to detect essentially all affected babies, knowing that many unaffected babies will have elevated IRT due to prematurity, stress, or other factors.

Another misconception is that a normal screening result means the baby is healthy. It does not. Screening covers a specific panel of conditions; many genetic, metabolic, and congenital disorders are not included. A baby with a normal screen could still develop any number of health problems. Screening is a safety net for specific, treatable conditions, not a comprehensive health assessment.

## Frequently Asked Questions

### What is newborn screening?

Newborn screening is a public health program that tests babies shortly after birth for a panel of genetic, metabolic, and congenital conditions. The goal is to identify treatable disorders before symptoms appear, when early intervention can prevent death, disability, or serious illness. In most developed countries, over 99% of newborns are screened.

### What is the purpose of newborn screening?

The purpose is early detection of conditions that cause irreversible damage if treated late. For many screened disorders, such as PKU and congenital hypothyroidism, treatment started in the first weeks of life produces normal outcomes, while delayed treatment leads to permanent disability. Screening also provides parental reassurance and enables informed reproductive decisions.

### What is in newborn screening?

The typical panel includes blood spot tests for metabolic disorders (amino acid disorders, organic acidemias, fatty acid oxidation disorders), endocrine disorders (congenital hypothyroidism, congenital adrenal hyperplasia), hemoglobin disorders (sickle cell disease), and other conditions (cystic fibrosis, SCID, spinal muscular atrophy). Hearing screening and pulse oximetry screening for critical congenital heart disease are also performed.

### How is newborn screening done?

A few drops of blood are collected from a heel prick onto a filter paper card between 24 and 72 hours after birth. The card is dried and mailed to a laboratory, where it is analyzed by tandem mass spectrometry and other methods. Hearing screening uses otoacoustic emissions or auditory brainstem response testing. Pulse oximetry measures oxygen saturation in the hand and foot.

### What conditions does newborn screening detect?

Common conditions include phenylketonuria, maple syrup urine disease, medium-chain acyl-CoA dehydrogenase deficiency, galactosemia, congenital hypothyroidism, congenital adrenal hyperplasia, sickle cell disease, cystic fibrosis, severe combined immunodeficiency, and spinal muscular atrophy. The exact panel varies by jurisdiction.

### Is newborn screening mandatory?

In most jurisdictions, newborn screening is mandatory, though parents may refuse on religious or philosophical grounds in some places. The program is considered so beneficial that it is offered universally, and the vast majority of parents accept it. Some states require that parents be informed and given the opportunity to decline.

### What happens if a newborn screening test is positive?

A positive screening result is not a diagnosis. The baby's physician is contacted, and confirmatory diagnostic testing is arranged. This may include quantitative metabolite measurement, enzyme assays, or [DNA sequencing](/blog/guides/dna-sequencing). If the diagnosis is confirmed, treatment is initiated immediately and the family is referred to a specialist. The entire process is designed to be rapid, especially for conditions where early treatment is critical.

### Why is newborn screening important?

Newborn screening is important because it prevents death and disability from treatable genetic and metabolic conditions. For conditions like PKU and congenital hypothyroidism, it is the difference between normal development and severe intellectual disability. For conditions like MCAD deficiency and SCID, it is the difference between life and death. It is one of the most cost-effective public health interventions ever developed.

## Key Takeaways

- Newborn screening is a universal public health program that tests babies for treatable genetic, metabolic, and congenital conditions within the first days of life.
- The goal is early detection: many screened disorders cause irreversible damage before symptoms appear, and treatment is most effective when started immediately after birth.
- The process involves a heel prick blood spot collected on filter paper, analyzed by tandem mass spectrometry, plus hearing screening and pulse oximetry for critical congenital heart disease.
- Common screened conditions include PKU, congenital hypothyroidism, sickle cell disease, cystic fibrosis, MCAD deficiency, SCID, and spinal muscular atrophy.
- Screening is not diagnosis: positive results require confirmatory testing, and a normal screen does not guarantee the baby has no health problems.
- The evidence for effectiveness is strong: screening has transformed outcomes for PKU, congenital hypothyroidism, MCAD deficiency, and sickle cell disease.
- New conditions are added to screening panels only when they meet strict criteria, including the availability of effective treatment and a suitable screening test.

## Further Reading

- Succoio M et al. *Galactosemia: Biochemistry, [Molecular Genetics](/blog/careers/molecular-genetics), Newborn Screening, and Treatment*. Biomolecules. 2022. [PubMed 35883524](https://doi.org/10.3390/biom12070968)
- Pappas KB. *Newborn Screening*. Pediatric clinics of North America. 2023. [PubMed 37704344](https://doi.org/10.1016/j.pcl.2023.06.003)
- Stark Z, Scott RH. *Genomic newborn screening for rare diseases*. Nature reviews. Genetics. 2023. [PubMed 37386126](https://doi.org/10.1038/s41576-023-00621-w)
- Berry SA. *Newborn screening*. Clinics in perinatology. 2015. [PubMed 26042913](https://doi.org/10.1016/j.clp.2015.03.002)
- Aragon-Gawinska K et al. *Spinal Muscular Atrophy Treatment in Patients Identified by Newborn Screening-A Systematic Review*. Genes. 2023. [PubMed 37510282](https://doi.org/10.3390/genes14071377)
- Association of Women’s Health, Obstetric and Neonatal Nurses. *Newborn Screening*. Journal of obstetric, gynecologic, and neonatal nursing : JOGNN. 2022. [PubMed 36058758](https://doi.org/10.1016/j.jogn.2022.07.004)

## Related Topics

- [Tumor Suppressor Gene](/knowledge/molecular-biology/tumor-suppressor-gene)
- [Frameshift Mutation](/knowledge/molecular-biology/frameshift-mutation)
- [Genetic Mutation](/knowledge/molecular-biology/genetic-mutation)
- [Liquid Biopsy](/knowledge/molecular-biology/liquid-biopsy)
- [Circulating Tumor DNA](/knowledge/molecular-biology/circulating-tumor-dna)

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