Newborn screening tests

Newborn screening tests for your baby

Newborn screening tests

  • All babies in the United States get newborn screening. Each state decides which tests are required. 
  • Ask your baby’s health care provider which tests your baby will have. 
  • If your baby has a newborn screening test result that’s not normal, he should have a different kind of test to make sure he’s healthy.  
  • Newborn screening helps identify rare but serious health conditions. Many of these can be treated if found early. 

Before your baby leaves the hospital, he has some special tests called newborn screening. Newborn screening checks for serious but rare conditions that your baby has at birth. It includes blood, hearing and heart screening. 

Your baby can be born with a health condition but may not show any signs of the problem at first. If a health condition is found early with newborn screening, it often can be treated. This makes it possible to avoid more serious health problems for your baby. 

When is newborn screening done? 

Your baby gets newborn screening before he leaves the hospital after birth, when he’s 1 to 2 days old. If your baby isn't born in a hospital, talk to her provider about getting newborn screening at 1 to 2 days of age. Some states require that babies have newborn screening again about 2 weeks later. 

How does newborn screening happen?

There are three parts to newborn screening:

  1. Blood test. Most newborn screening is done with a blood test. A health care provider pricks your baby’s heel to get a few drops of blood. He collects the blood on a special paper and sends it to a lab within 1 day (24 hours) for testing. Your provider gets results for serious health conditions within 5 days and results for all conditions by 7 days. Following these timeframes is critical in case your baby has a disorder that needs to be identified and treated as early as possible. You can check with the hospital staff to make sure your baby’s sample was sent to the lab on time. 
  2. Hearing screening. For this test, your provider places a tiny, soft speaker in your baby’s ear to check how your baby responds to sound. Your baby gets this test before she leaves the hospital after birth.
  3. Heart screening. This test is called pulse oximetry. It checks the amount of oxygen in your baby’s blood by using a sensor attached to his finger or foot. This test is used to screen babies for a group of heart conditions called critical congenital heart disease (CCHD). Your baby gets this test before he leaves the hospital after birth. 

To find out more about the timeframes used for sending blood samples to lab and getting test results back, ask your baby’s provider or the hospital staff. Some states have websites with information about how well your hospital uses the timeframes. Check your state’s health department website to see if this information is available about your hospital.

What if newborn screening results aren’t normal?

Most newborn screening results are normal. In rare cases when your baby’s screening results aren’t normal, it may simply mean she needs more testing.

Your baby’s provider then recommends another kind of test, called a diagnostic test, to see if there is a health problem. If the diagnostic test results are normal, no more testing is needed.

If the diagnostic test results are not normal, your provider can guide you about next steps for your baby.

If one of your children has a health condition, will another have it, too? 

Almost all of the health conditions found by newborn screening are inherited. This means they are passed from parents to children.

When one child in a family has an inherited health condition, the chance of a brother or sister having the same condition is higher than if no child in the family has the condition. 

If you have a child with a health condition and you want to have another baby, talk to your health care provider or a genetic counselor. A genetic counselor is a person who is trained to know about genetics, birth defects and other medical problems that run in families.

Sometimes hearing loss is not inherited. For example, it can be caused by an infection during pregnancy. In this case, it usually doesn’t happen in another pregnancy.

What kinds of health conditions does newborn screening test for?

Each state requires different tests, so ask your baby’s health care provider which tests your baby will have. You also can visit babysfirsttest.org to find out what conditions your state tests for.

The March of Dimes would to see all babies in all states screened for at least 35 health conditions. Many of these health conditions can be treated if found early. The health conditions are divided into seven groups:

1. Organic acid metabolism disorders. Babies with these problems don’t metabolize food correctly. Metabolism is the way your body changes food into the energy it needs to breathe, digest and grow. 

  • Isovaleric acidemia (IVA)
  • Glutaric acidemia (GAI)
  • Hydroxymethylglutaric aciduria, also called 3-OH 3-CH3 glutaric aciduria (HMG)
  • Multiple carboxylase deficiency (MCD) 
  • Methylmalonic acidemia, mutase deficiency (MUT) 
  • 3-methylcrotonyl-CoA carboxylase deficiency  (3MCC) 
  • Methylmalonic acidemia, CBl A and CBl B forms  
  • Propionic acidemia (PROP) 
  • Beta-ketothiolase deficiency (BKT) 

2. Fatty acid oxidation disorders. When your body runs sugar, it usually breaks down fat for energy. A baby with fatty acid oxidation problems can’t change fat into energy.

  • Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) 
  • Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD) 
  • Long-chain hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) 
  • Trifunctional protein deficiency (TFP) Carnitine uptake defect (CUD)

3. Amino acid metabolism disorders. Babies with these problems can’t process amino acids in the body. Amino acids help the body make protein.

  • Phenylketonuria (PKU)
  • Maple syrup urine disease (MSUD) 
  • Homocystinuria (HCY) 
  • Citrullinemia (CIT) 
  • Argininosuccinic acidemia (ASA) 
  • Tyrosinemia type I (TYR I) 

4. Hemoglobin disorders. These problems affect red blood cells. Red blood cells carry oxygen to the rest of the body. 

  • Sickle cell anemia
  • Hb S/beta-thalassemia (Hb S/Th)
  • Hb S/C disease (Hb S/C) 

5. Lysosomal storage disorders. Babies with these problems can’t break down certain types of complex sugars. This causes harmful substances to build up in the body.

  • Mucopolysaccharidosis Type-1 (MPS 1)
  • Pompe disease 

6. Adrenal gland disorders. These problems affect the adrenal glands, which sit on top of the kidneys and help the body make hormones.

  • Congenital adrenal hyperplasia (CAH) 
  • X-linked adrenoleukodystrophy (X-ALD)

7. Other disorders

More information

See also: Birth defects, Newborn care in the delivery room

Last reviewed: February, 2016

Source: https://www.marchofdimes.org/baby/newborn-screening-tests-for-your-baby.aspx

Newborn Screening

Newborn screening tests

General Sources Used in Current Review

2017 review performed by Brittney Donovan, MS, University of Iowa College of Public Health.

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(Reviewed 2015 May 1). Screening facts. Baby's First Tests. Available online at http://www.babysfirsttest.org/screening-facts. Accessed April 2017.

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(Reviewed 2016 February 23). Newborn screening. Centers for Disease Control and Prevention. Available online at https://www.cdc.gov/ncbddd/newbornscreening/. Accessed April 2017.

Newborn screening tests. KidsHealth. Available online at http://kidshealth.org/en/parents/newborn-screening-tests.html. Accessed April 2017.

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(2015 March) Recommended uniform screening panel. Advisory Committee on Heritable Disorders in Newborns and Children. Available online at http://www.hrsa.gov/advisorycommittees/mchbadvisory/heritabledisorders/recommendedpanel/. Accessed April 2017.

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(Reviewed 2016 February). Newborn screening tests. March of Dimes. Available online at http://www.marchofdimes.com/professionals/bringinghome_screening.html. Accessed April 2017.

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(November 3, 2014) National Newborn Screening and Global Resource Center. Frequently Asked Questions About Newborn Bloodspot Screening. Available online at http://genes-r-us.uthscsa.edu/parentfaq.htm. Accessed April 2017.

(November 2013) American College of Obstetricians and Gynecologists. Frequently Asked Questions Pregnancy. Available online at http://www.acog.org/~/media/For%20Patients/faq093.pdf. Accessed April 2017.

(March 15, 2017) Texas Department of State Health Services. Newborn Screening – Frequently Asked Questions. Available online at https://www.dshs.texas.gov/lab/nbsFAQ.shtm. Accessed May 2017.

(February 21, 2014) Centers for Disease Control and Prevention. Newborn Screening Laboratory Bulletin. Available online at https://www.cdc.gov/nbslabbulletin/bulletin.html. Accessed May 2017.

Cystic Fibrosis Foundation. How Babies Are Screened in IRT-Only vs. IRT-DNA States. Available online at https://www.cff.org/What-is-CF/Testing/How-Babies-are-Screened-in-IRT-Only-vs–IRT-DNA-States/. Accessed May 2017.

Newborn screening tests. KidsHealth. Available online at http://kidshealth.org/en/parents/newborn-screening-tests.html. Accessed April 2017.

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(Reviewed 2016 February). Newborn screening tests. March of Dimes. Available online at http://www.marchofdimes.com/professionals/bringinghome_screening.html. Accessed April 2017.

(2016 November 1). Help me understand genetics: Newborn screening. Genetics Home Reference. Available online at https://ghr.nlm.nih.gov/primer#newbornscreening. Accessed April 2017.

(November 3, 2014) National Newborn Screening and Global Resource Center. Frequently Asked Questions About Newborn Bloodspot Screening. Available online at http://genes-r-us.uthscsa.edu/parentfaq.htm. Accessed April 2017.

(November 2013) American College of Obstetricians and Gynecologists. Frequently Asked Questions Pregnancy. Available online at http://www.acog.org/~/media/For%20Patients/faq093.pdf. Accessed April 2017.

(March 15, 2017) Texas Department of State Health Services. Newborn Screening – Frequently Asked Questions. Available online at https://www.dshs.texas.gov/lab/nbsFAQ.shtm. Accessed May 2017.

(February 21, 2014) Centers for Disease Control and Prevention. Newborn Screening Laboratory Bulletin. Available online at https://www.cdc.gov/nbslabbulletin/bulletin.html. Accessed May 2017.

Cystic Fibrosis Foundation. How Babies Are Screened in IRT-Only vs. IRT-DNA States. Available online at https://www.cff.org/What-is-CF/Testing/How-Babies-are-Screened-in-IRT-Only-vs–IRT-DNA-States/. Accessed May 2017.

(2013 April). Human Immunodeficiency Virus (HIV) infection: Screening. U.S. Preventative Services Task Force. Available online at https://www.uspreventiveservicestaskforce.org/Page/Document/UpdateSummaryFinal/human-immunodeficiency-virus-hiv-infection-screening. Accessed April 2017.

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(2016 March 23). HIV among pregnant women, infants, and children. Centers for Disease Control and Prevention. Available online at http://www.cdc.gov/hiv/group/gender/pregnantwomen/index.html. Accessed April 2017.

(Updated 2016 August 22). Screening recommendations and considerations referenced in treatment guidelines and original sources. Centers for Disease Control and Prevention. Available online at http://www.cdc.gov/std/tg2015/screening-recommendations.htm. Accessed April 2017.

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(May 16, 2017) AIDS Info. Preventing Mother-to-Child Transmission of HIV. Available online at https://aidsinfo.nih.gov/understanding-hiv-aids/fact-sheets/20/50/preventing-mother-to-child-transmission-of-hiv. Accessed May 2017.

(June 4, 2015) CDC. Screening Recommendations and Considerations Referenced in Treatment Guidelines and Original Sources. Available online at https://www.cdc.gov/std/tg2015/screening-recommendations.htm. Accessed May 2017

(June 2009) USPSTF. Final Recommendation Statement, Hepatitis B in Pregnant Women: Screening. Available online at https://www.uspreventiveservicestaskforce.org/Page/Document/RecommendationStatementFinal/hepatitis-b-in-pregnant-women-screening. Accessed May 2017.

Source: https://labtestsonline.org/screenings/newborns

9 Common Newborn Screening Tests

Newborn screening tests
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Why do newborn babies undergo screening tests?

The purpose of newborn tests is to screen for serious treatable diseases. Most of the disorders are genetic (inherited). The tests are usually done before the baby leaves the hospital. If the tests are done earlier than 24 hours after the baby is born, a repeat test is recommended at 1 to 2 weeks of age.

The newborn screening tests which are done in the United States a are decided on a state-by-state basis.

The most common newborn screening tests in the US include those for hypothyrodism (underactivity of the thyroid gland), PKU (phenylketonuria), galactosemia, and sickle cell disease.

Testing for hypothyroidism and PKU is required in virtually all States. Screening for galactosemia and sickle cell disease is required in most states.

Some states in the US mandate tests for other conditions. These include:

  • maple syrup urine disease (MSUD),
  • homocystinuria,
  • biotinidase deficiency,
  • congenital adrenal hyperplasia,
  • MCAD,
  • tyrosinemia,
  • cystic fibrosis, and
  • toxoplasmosis.

All these tests are usually done using the same sample of the baby's blood.

What are the most common newborn screening tests?

Congenital hypothyroidism (low thyroid activity at birth) affects one in about every 4,000 babies.

Most children with it who are not identified and treated promptly after birth develop mental retardation and growth failure, deafness, and neurologic abnormalities.

Infants with congenital hypothyroidism who start receiving oral thyroid hormone in the first weeks of life perform normally or near-normally on intellectual testing at 4 to 7 years of age.

Phenylketonuria (PKU)

Babies with PKU lack an enzyme called phenylalanine hydroxylase needed to process phenylalanine, an amino acid in the diet. This defect causes phenylalanine to accumulate in the blood stream and leads to brain damage.

A baby with PKU is given a special formula and later is a diet that is low in phenylalanine. Dietary reatment started in the first few weeks of life can prevent the consequences of the disease and avoid the brain damage and learning disabilities.

Galactosemia

This disease (pronounced ga·lac·to·semia with the accent on the lac) is due to lack of an enzyme needed to handle the sugar galactose. This inability causes failure to thrive, vomiting, cataracts, progressive liver disease, and mental retardation. Death often results from bloodstream infection with the bacteria E. coli (Escherichia coli).

The elimination of galactose from the child's diet, by avoiding milk and milk products, leads to dramatic improvement and in time the clinical consequences of the disease decrease or disappear.

Sickle Cell Disease

Red blood cells in babies with this very important genetic disease become sickle-shaped after they give up oxygen to the tissues. The sickle-shape cells can become stuck in blood vessels causing pain and organ damage.

Recognition of the disease soon after birth is important since children with this disease are much more ly to develop severe infections, experience great pain, organ damage, and strokes.

Appropriate treatment can prevent or lessen these problems.

The laboratory test for sickle cell disease is also designed to screen for other disorders (such as thalassemia and hemoglobin E) of hemoglobin (the oxygen carrier in red blood cells).

The abbreviated term ADHD denotes the condition commonly known as: See Answer

Maple syrup urine disease (MSUD) is an inherited error involving the metabolism of the branched chain amino acids (leucine, isoleucine and valine) that results in mental retardation and sometimes death. Damage from MSUD can be minimized by a special diet.

Homocystinuria

Homocystinuria is a genetic disease in which there is deficiency of an enzyme that converts the amino acid homocysteine into cystathionine. The disease results in mental retardation, eye problems, skeletal abnormalities and stroke. These problems can be prevented or diminished by a special diet and high doses of vitamin B6 or B12.

Biotinidase Deficiency

Biotinidase deficiency is a genetic disorder in which there is a deficiency of the essential B vitamin biotin. This results in frequent infections, hearing loss, uncoordinated movements, seizures and mental retardation. These dire consequences can be prevented by giving the baby extra biotin.

Congenital Adrenal Hyperplasia

Congenital adrenal hyperplasia (CAH) is a genetic disorder affecting one baby in 5,000. It is due to defects in the production of adrenal hormones. Severe forms can cause life-threatening salt loss. Treatment includes replacement of salt and the missing adrenal hormones.

MCAD

Pronounced EM-cad, this is a genetic disorder in which there is deficiency of an enzyme needed to convert fat to energy. The child may seem perfectly normal and then suddenly have seizures, respiratory failure, cardiac arrest, coma and die. Treatment of MCAD includes frequent intake of food (or glucose) and avoidance of fasting.

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References

Medically reviewed by Joseph Carcione, DO; American Board of Psychiatry and Neurology REFERENCE: “Newborn screening”

UpToDate.com

Source: https://www.medicinenet.com/newborn_screening_tests/views.htm

Newborn Screening Tests

Newborn screening tests

Newborn screening is a public health service done in each U.S. state. Every newborn is tested for a group of health disorders that aren't otherwise found at birth.

With a simple blood test, doctors can check for rare genetic, hormone-related, and metabolic conditions that can cause serious health problems. Newborn screening lets doctors diagnose babies quickly and start treatment as soon as possible.

Which Screening Tests Are Offered?

Screening varies by state. Tests offered can change as technology advances and treatments improve. Although there are national recommendations for newborn screening, it is up to each state to decide which tests to include.

Newborn screening includes tests for:

Metabolic problems. Metabolism is the process that converts food into energy the body can use to move, think, and grow. Enzymes are special proteins that help with by speeding up the chemical reactions in cells. Most metabolic problems happen when certain enzymes are missing or not working as they should. Metabolic disorders in newborn screening include:

  • phenylketonuria (PKU)
  • methylmalonic acidemia
  • maple syrup urine disease (MSUD)
  • tyrosinemia
  • citrullinema
  • medium chain acyl CoA dehydrogenase (MCAD) deficiency

Hormone problems. Hormones are chemical messengers made by glands. Hormone problems happen when glands make too much or not enough hormones. Hormone problems in newborn screening include:

  • congenital hypothyroidism
  • congenital adrenal hyperplasia

Hemoglobin problems: Hemoglobin is a protein in red blood cells that carries oxygen throughout the body. Some of the hemoglobin problems included in newborn screening are:

  • sickle cell disease 
  • hemoglobin SC disease
  • beta thalassemia

Other problems. Other rare but serious medical problems included in newborn screening are:

Most states also screen for hearing loss and critical congenital heart disease.

Talk to your doctor if you think your baby may need other newborn screening tests not offered through your state program.

How Is Newborn Screening Done?

A small blood sample taken by pricking the baby's heel is tested. This happens before the baby leaves the hospital, usually at 1 or 2 days of age. Talk to your doctor about newborn screening if your baby was not born in a hospital.

The blood sample should be taken after the first 24 hours of life. Some babies are tested within the first 24 hours, though, because sometimes moms and newborns are discharged within 1 day. If this happens, experts recommend taking a repeat sample no more than 1 to 2 weeks later. Some states routinely do two tests on all infants.

When Are the Results Ready?

Results of newborn screening for hearing loss and heart disease are available as soon as the test is done.

Blood test results usually are ready by the time a baby is 5–7 days old. Often, parents won't hear about results if screening tests were normal. They are contacted if a test was positive for a condition. A positive newborn screening test does not mean a child definitely has the medical condition. Doctors order more tests to confirm or rule out the diagnosis.

If a diagnosis is confirmed, doctors might refer the child to a specialist for more testing and treatment. When treatment is needed, it's important to start it as soon as possible. Treatment may include special formula, diet restrictions, supplements, medicines, and close monitoring.

Visit Baby's First Test for more information on newborn screening and to find out which conditions your state checks for.

Source: https://kidshealth.org/en/parents/newborn-screening-tests.html

About Newborn Screening Newborn Screening 101

Newborn screening tests

Newborn screening is a state public health service that reaches each of the nearly 4 million babies born in the United States each year. It ensures that all babies are screened for certain serious conditions at birth, and for those babies with the conditions, it allows doctors to start treatment before some of the harmful effects happen.

Newborn screening is performed soon after the birth of your baby, and in most cases, while you are still in the hospital. All it takes is a few drops of blood and a simple hearing test. Learn more about the testing process in the What To Expect section.

Newborn screening began in the 1960s when scientist Robert Guthrie, MD, PhD, developed a blood test that could detect whether newborns had the metabolic disorder, phenylketonuria (PKU).

  Since then, scientists have developed more tests to screen newborns for a variety of severe conditions.  Screening tests are currently available for more than 60 disorders.

However, there is variability in the number and types of conditions found on each state’s newborn screening panel, which is determined by each state public health department.

Screening, in general, is a public health service designed to identify individuals in a population who may be at an increased risk of a certain disease. Because the test is performed before an individual has any observable symptoms, it allows a condition to be identified and treated before a problem occurs.

A screening test cannot confirm or rule out a particular condition. Stated differently, newborn screening is not a diagnostic test. It identifies individuals who may have the condition so that definitive follow-up testing can be offered to determine if the condition is truly present.

Visit our testing outcomes page for more information.

Key Facts

  • The conditions newborns are screened for differ in each state.
  • Most states screen for 29 of the 35 conditions recommended by the Advisory Committee on Heritable Disorders in Newborns and Children. Although these conditions are rare, each year over 5,000 babies are identified with a newborn screening condition.
  • There are three parts to newborn screening. A heel stick to collect a small blood sample, pulse oximetry to look at the amount of oxygen in the baby’s blood, and a hearing screen.
  • The blood test is generally performed when a baby is 24 to 48 hours old. This timing is important because certain conditions may go undetected if the blood sample is drawn before 24 hours of age.
  • Newborn screening does not confirm a baby has a condition. If a positive screen is detected, parents will be notified immediately and follow-up testing will be done.
  • Every baby born in the United States will be screened unless a parent decides to opt out for religious reasons.

Frequently Asked Questions

Q: My nurse said my baby needed a PKU test. Is a PKU test the same as newborn screening?

A: Yes. Some health professionals will use the term PKU test as a synonym for newborn screening.

The term PKU test can be misleading. Every state screens for phenylketonuria (PKU), a rare metabolic disorder, but they also screen for many other conditions.

  To find out what conditions are included in your state’s newborn screening program visit this page.

Q: Will the newborn screening blood test hurt my baby?A: Most babies experience some brief discomfort from the heel stick, but it heals quickly and leaves no scar.  The following suggestions may help make the screening experience more comfortable for you and your baby: 1.  Nurse/feed the baby before and/or after the procedure.   2.  Hold the baby during the procedure. 3.  Make sure the baby is warm and comfortable during the procedure.

Studies show that when mothers or health professionals comfort babies during the heel stick, the babies are less ly to cry.

Q: Why are all babies screened at birth?A: Most babies are born healthy. However, some infants have a serious medical condition even though they look and act all newborns. These babies generally come from families with no previous history of a condition. Newborn screening allows health professionals to identify and treat certain conditions before they make a baby sick. Most babies with these conditions who are identified at birth and treated early are able to grow up healthy with normal development.Q: Do parents have to ask for screening?A: No – it is normal hospital procedure to screen every baby regardless of whether the parent asks for it and whether the parents have health insurance. The screening test is normally included in the forms for standard medical procedures that the newborn may need after birth. Parents sign this form upon arrival at the hospital for the birth of their baby. All states require screening to be performed on newborns, but most will allow parents to refuse for religious purposes. Any decision to decline or refuse testing should first be discussed with a health professional, since newborn screening is designed to protect the health of the baby.Q: How are screening costs covered?A: Newborn screening test costs vary by state because individual states finance their newborn screening programs in different ways. Most states collect a fee for screening, but health insurance or other programs often cover all or part of it. Babies will receive newborn screening regardless of health insurance status. For more information regarding the cost of newborn screening in your state, contact your state’s newborn screening coordinator. Find the contact info for your state coordinator by searching for your state here.

Today, EVERY baby can be screened

Each year, over 5,000 babies are born with one of the conditions included in state newborn screening panels. Most of these infants appear perfectly healthy at birth and come from families with no history of the disorder.

Unfortunately, once symptoms appear, they are often irreversible, leading to severe health and developmental problems or even death.

Every baby born in the United States is required by law to undergo newborn screening prior to leaving the hospital because it is the only way to tell if a seemingly healthy infant has one of these rare, but serious, conditions. Most affected babies identified through newborn screening who receive treatment early grow up healthy with normal development.

For more information regarding the newborn screening procedure and what to expect at the hospital, see the Screening Procedures section.

Source: https://www.babysfirsttest.org/newborn-screening/screening-101

Genetic, Chromosomal & Metabolic Conditions

Newborn screening tests

Newborn screening is the practice of testing every newborn for certain harmful or potentially fatal disorders that aren’t otherwise apparent at birth.

Many of these are metabolic disorders (often called “inborn errors of metabolism”) that interfere with the body’s use of nutrients to maintain healthy tissues and produce energy. Other disorders that screening can detect include problems with hormones or the blood.

In general, metabolic and other inherited disorders can hinder an infant’s normal physical and mental development in a variety of ways. And parents can pass along the gene for a certain disorder without even knowing that they’re carriers.

With a simple blood test, doctors often can tell whether newborns have certain conditions that eventually could cause problems. Although these conditions are considered rare and most babies are given a clean bill of health, early diagnosis and proper treatment can make the difference between lifelong impairment and healthy development.

Screening: Past, Present & Future

In the early 1960s, scientist Robert Guthrie, PhD, developed a blood test that could determine whether newborns had the metabolic disorder phenylketonuria(PKU).

People with PKU lack an enzyme needed to process the amino acid phenylalanine, which is necessary for normal growth in kids and for normal protein use throughout life.

However, if too much phenylalanine builds up, it damages brain tissue and eventually can cause substantial developmental delay.

If kids born with PKU are put on a special diet right away, they can avoid the developmental delay the condition caused in past generations and lead normal lives.

Since the development of the PKU test, researchers have developed additional blood tests that can screen newborns for other disorders that, unless detected and treated early, can cause physical problems, developmental delay, and in some cases, death.

The federal government has set no national standards, so screening requirements vary from state to state and are determined by individual state public health departments. Many states have mandatory newborn screening programs, but parents can refuse the testing for their infant if they choose.

Almost all states now screen for more than 30 disorders. One screening technique, the tandem mass spectrometry (or MS/MS), can screen for more than 20 inherited metabolic disorders with a single drop of blood.

Which Tests Are Offered?

Traditionally, state decisions about what to screen for have been weighing the costs against the benefits. “Cost” considerations include:

  • the risk of false positive results (and the worry they cause)
  • the availability of treatments known to help the condition
  • financial costs

So what can you do? Your best strategy is to stay informed. Discuss this issue with both your obstetrician or health care provider and your future baby’s doctor before you give birth. Know what tests are routinely done in your state and in the hospital where you’ll deliver (some hospitals go beyond what’s required by state law).

If your state isn’t offering screening for the expanded panel of disorders, you may want to ask your doctors about supplemental screening, though you’ll probably have to pay for additional tests yourself.

If you’re concerned about whether your infant was screened for certain conditions, ask your child’s doctor for information about which tests were done and whether further tests are recommended.

Newborn screening varies by state and is subject to change, especially given advancements in technology. However, the disorders listed here are the ones typically included in newborn screening programs.

PKU

When this disorder is detected early, feeding an infant a special formula low in phenylalanine can prevent mental retardation.

A low-phenylalanine diet will need to be followed throughout childhood and adolescence and perhaps into adult life.

This diet cuts out all high-protein foods, so people with PKU often need to take a special artificial formula as a nutritional substitute. Incidence: 1 in 10,000 to 25,000.

Congenital Hypothyroidism

This is the disorder most commonly identified by routine screening. Affected babies don’t have enough thyroid hormone and so develop retarded growth and brain development. (The thyroid, a gland at the front of the neck, releases chemical substances that control metabolism and growth.)

If the disorder is detected early, a baby can be treated with oral doses of thyroid hormone to permit normal development. Incidence: 1 in 4,000.

Maple Syrup Urine Disease (MSUD)

Babies with MSUD are missing an enzyme needed to process three amino acids that are essential for the body’s normal growth. When not processed properly, these can build up in the body, causing urine to smell maple syrup or sweet, burnt sugar. These babies usually have little appetite and are extremely irritable.

If not detected and treated early, MSUD can cause mental retardation, physical disability, and even death. A carefully controlled diet that cuts out certain high-protein foods containing those amino acids can prevent this. people with PKU, those with MSUD are often given a formula that supplies the necessary nutrients missed in the special diet they must follow. Incidence: 1 in 250,000.

Tyrosinemia

Babies with this amino acid metabolism disorder have trouble processing the amino acid tyrosine. If it accumulates in the body, it can cause mild retardation, language skill difficulties, liver problems, and even death from liver failure.

Treatment requires a special diet and sometimes a liver transplant. Early diagnosis and treatment seem to offset long-term problems, although more information is needed. Incidence: not yet determined.

Some babies have a mild self-limited form of tyrosinemia.

Cystic Fibrosis

Cystic fibrosis (CF) is a genetic disorder that particularly affects the lungs and digestive system and makes kids who have it more vulnerable to repeated lung infections.

There is no known cure — treatment involves trying to prevent serious lung infections (sometimes with antibiotics) and providing adequate nutrition.

Early detection may help doctors reduce the problems associated with CF, but the real impact of newborn screening has yet to be determined. Incidence: 1 in 2,000 Caucasian babies; less common in African-Americans, Hispanics, and Asians.

MCAD Deficiency

MCAD (medium chain acyl CoA dehydrogenase) deficiency is a fatty acid metabolism disorder.

Kids who have it are prone to repeated episodes of low blood sugar (hypoglycemia), which can cause seizures and interfere with normal growth and development.

Treatment involves making sure kids don’t fast (skip meals) and supplies extra nutrition (usually by intravenous nutrients) when they’re ill. Early detection and treatment can help affected children live normal lives.

Toxoplasmosis

Toxoplasmosis is a parasitic infection that can be transmitted through the mother’s placenta to an unborn child. The disease-causing organism can invade the brain, eye, and muscles, possibly resulting in blindness and mental retardation. The benefit of early detection and treatment is uncertain. Incidence: 1 in 1,000. But only one or two states screen for toxoplasmosis.

Hearing Screening

Most but not all states require newborns’ hearing to be screened before they’re discharged from the hospital. If your baby isn’t examined then, be sure that he or she does get screened within the first 3 weeks of life.

Kids develop critical speaking and language skills in their first few years. A hearing loss that’s caught early can be treated to help prevent interference with that development.

Should I Request Additional Tests?

If you answer “yes” to any of these questions, talk to your doctor and perhaps a genetic counselor about additional tests:

  • Do you have a family history of an inherited disorder?
  • Have you previously given birth to a child who’s affected by a disorder?
  • Did an infant in your family die because of a suspected metabolic disorder?
  • Do you have another reason to believe that your child may be at risk for a certain condition?

How Screening Is Done

In the first 2 or 3 days of life, your baby’s heel will be pricked to obtain a small blood sample for testing. Most states have a state or regional laboratory perform the analyses, although some use a private lab.

It’s generally recommended that the sample be taken after the first 24 hours of life. Some tests, such as the one for PKU, may not be as sensitive if they’re done too soon after birth.

However, because mothers and newborns are often discharged within a day, some babies may be tested within the first 24 hours. If this happens, experts recommend that a repeat sample be taken no more than 1 to 2 weeks later.

It’s especially important that the PKU screening test be run again for accurate results. Some states routinely do two tests on all infants.

Getting the Results

Different labs have different procedures for notifying families and pediatricians of the results. Some may send the results to the hospital where your child was born and not directly to your child’s doctor, which may mean a delay in getting the results to you.

And although some states have a system that allows doctors to access the results via phone or computer, others may not. Ask your doctor how you’ll get the results and when you should expect them.

If a test result comes back abnormal, try not to panic. This does not necessarily mean that your child has the disorder in question. A screening test is not the same as diagnostic test. The initial screening provides only preliminary information that must be followed up with more specific diagnostic testing.

If testing confirms that your child does have a disorder, your doctor may refer you to a specialist for further evaluation and treatment. Keep in mind that dietary restrictions and supplements, along with proper medical supervision, often can prevent most of the serious physical and mental problems that were associated with metabolic disorders in the past.

You also may wonder whether the disorder can be passed on to any future children. You’ll want to discuss this with your doctor and perhaps a genetic counselor. Also, if you have other children who weren’t screened for the disorder, consider having testing done. Again, speak with your doctor.

Know Your Options

Because state programs are subject to change, you’ll want to find up-to-date information about your state’s (and individual hospital’s) program. Talk to your doctor or contact your state’s department of health for more information.

Reviewed by: Patricia G. Wheeler, MD
Date reviewed: September 2012

Source: https://www.rchsd.org/health-articles/newborn-screening-tests/

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