Test for new born baby

Newborn screening tests for your baby

Newborn screening helps identify serious but rare health conditions at birth.

All babies in the United States get newborn screening. Each state decides which tests are required.

Most newborn screening test results are normal. If a result is not normal, your baby gets a different kind of test called a diagnostic test.

Health conditions that are found early with newborn screening often can be treated.

Early treatment is important, because it may help prevent more serious health problems for your baby.

What is newborn screening?

When your baby is 1 to 2 days old, he has some special tests called newborn screening.   Newborn screening checks a baby for serious but rare and mostly treatable health conditions 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. Early treatment is important, because it may help prevent more serious health problems for your baby.

All babies in the United States get newborn screening. About 4 million babies are screened every year.

When is newborn screening done?

Your baby gets newborn screening before she leaves the hospital after birth, when she’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 1 to 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 to check for rare but serious health conditions. 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 for testing. Blood test results are usually ready by the time your baby is 5 to 7 days old. To find out more about the timeframes for sending blood samples to lab and getting test results back, ask your baby’s provider or the hospital staff.
2. Hearing screening. This test checks for hearing loss. For this test, your provider places tiny earphones in your baby’s ears and uses special computers to check how your baby responds to sound.
3. Heart screening. This test is used to screen babies for a group of heart conditions called critical congenital heart defects (also called critical CHDs or CCHDs). It uses a simple test called pulse oximetry. Pulse oximetry checks the amount of oxygen in your baby’s blood by using a pulse oximeter machine and sensors placed on your baby’s skin.

What if newborn screening results aren’t normal?

Most newborn screening results are normal. If 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?

Many of the health conditions found by newborn screening are inherited. Inherited means something that is passed from parent to child through genes. Genes are a part of your body’s cells that store instructions for the way your body grows and works.

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 help you understand about genes, birth defects and other medical conditions that run in families, and how they can affect your health and your baby’s health.

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.

March of Dimes works with states to ensure they are testing babies for the health conditions recommended by Department of Health and Human Services (also called HHS). The list of health conditions recommended by HHS is called RUSP or Recommended Uniform Screening Panel. March of Dimes would like 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 six groups:

1. Organic acid metabolism disorders. Metabolism is how well and fast your body processes what you eat and drink. Babies with organic acid metabolism disorders don’t break down food correctly, causing substances called organic acids to build up in the body.

• Propionic acidemia (PROP)
• Methylmalonic acidemia (methylmalonyl-CoA mutase deficiency) (MUT)
• Methylmalonic acidemia (cobalamin disorders) Cbl A, B)
• Isovaleric acidemia (IVA)
• 3-methylcrotonyl-CoA carboxylase deficiency (3-MCC)
• 3-hydroxy-3-methylglutaric aciduria (HMG)
• Holocarboxylase synthase deficiency (MCD)
• Beta-ketothiolase deficiency (BKT)
• Glutaric acidemia type 1 (GA-1)

2. Fatty acid oxidation disorders. During digestion, the body breaks down fat into fatty acids for energy. A baby with fatty acid oxidation problems can’t change fat into energy properly.

• Carnitine uptake defect/carnitine transport defect (CUD)
• Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)
• Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)
• Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD)
• Trifunctional protein deficiency (TFP)

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

• Argininosuccinic aciduria (ASA)
• Citrullinemia type 1 (CIT)
• Maple syrup urine disease (MSUD)
• Homocystinuria (HCY)
• Classic phenylketonuria (PKU)
• Tyrosinemia type I (TYR I)

4.   Endocrine disorders. These problems affect the glands that make hormones. Hormones are chemicals made by the body. Hormones help with many processes in the body, like growth and development.

• Primary congenital hypothyroidism (CH)
• Congenital adrenal hyperplasia (CAH)

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

• S,S disease (sickle cell anemia) (Hb SS)
• S, beta-thalassemia (Hb S/ßTh)
• S, C disease (Hb S/C)

6.    Other disorders

• Biotinidase deficiency (BIOT)
• Critical congenital heart disease (CCHD)
• Cystic fibrosis (CF)
• Classic galactosemia (GALT)
• Glycogen storage disease type II (Pompe disease) (POMPE)
• Hearing loss (HEAR)
• Severe combined immunodeficiency (SCID)
• Mucopolysaccharidosis type 1 (MPS I)
• X-linked adrenoleukodystrophy
• Spinal muscular atrophy due to homozygous deletion of exon 7 in SMN1

For more information

Baby’s First Test

Last reviewed: July 2020

Newborn Screening Tests (for Parents)

What Is Newborn Screening?

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

metabolismby 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:

• galactosemia
• biotidinase deficiency
• cystic fibrosis
• severe combined immunodeficiency (SCID)
• Pompe disease (glycogen storage disease type II)
• mucopolysaccharidosis type 1
• X-linked adrenoleukodystropy
• spinal muscle atrophy (SMA)

Most states also screen for hearing loss and critical congenital heart disease, which are not done by testing the blood.

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 after the baby is more than 24 hours old. 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. Parents can talk to their child's doctor about the newborn screening results.

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.

Neonatal screening | BPH 91

Immediately after birth, the child may not have clinical symptoms of a genetic disease. However, with age, clinical symptoms can increase, leading to a critical situation, serious illness and even death.

Neonatal screening is carried out for early detection, timely treatment, prevention of disability and the development of severe clinical consequences, as well as reducing child mortality from hereditary diseases.

Neonatal screening is a mass examination of newborns for hereditary diseases (adrenogenital syndrome, galactosemia, congenital hypothyroidism, cystic fibrosis, phenylketonuria).

When is newborn screening done?
Neonatal screening is carried out on:
- 4th day of life in a full-term baby;
- 7 days of life in a premature baby.

Where is newborn screening done?
Blood sampling is carried out in the maternity hospital. At the same time, in the extract, the neonatologist puts a mark “Neonatal screening taken”.
If for some reason the screening was not carried out, then it is carried out in the polyclinic at the place of residence.

How is newborn screening done?
A blood sample is taken from the heel of a newborn baby 3 hours after feeding.
Blood sampling is carried out on special filter paper test forms from the heel of the newborn.
Before taking a blood sample, the heel of a newborn child must be washed, wiped with a sterile cloth moistened with 70-degree alcohol, then moistened with a dry sterile cloth. The heel puncture of a newborn child is carried out with a disposable scarifier, the first drop of blood is removed with a sterile dry swab.
To collect a second drop of blood, apply gentle pressure to the heel of a newborn baby. The test form is applied perpendicularly and soaked with blood completely and through and through in accordance with the circle dimensions indicated on the test form. The appearance of blood spots should be the same on both sides of the test form.
The study of blood samples is carried out in the Medical Genetic Department (Moscow Center for Neonatal Screening).

Since 2006, in Russia, by order of the Ministry of Health and Social Development of Russia dated March 22, 2006 No. 185 "On mass screening of newborns for hereditary diseases" , neonatal screening for five hereditary diseases has been carried out: Congenital.
1. Phenylketonuria.
2. Cystic fibrosis.
3. Galactosemia.
4. Andrenogenital syndrome.
5. Congenital hypothyroidism.

Congenital hypothyroidism is a disease in which thyroid insufficiency is manifested, so the physical and mental condition of the child does not develop. Timely hormonal treatment will prevent the disease and lead to the full development and recovery of the baby. The dose of the hormone is selected individually.

Phenylketonuria is a rare hereditary disease of the group of fermentopathies associated with impaired metabolism of amino acids, mainly phenylalanine. The disease is associated with serious mental and neurological disorders. If a disease is detected, the doctor prescribes a long-term diet for the recovery and normal development of the young organism. The diet is selected individually.

Cystic fibrosis ( also known as cystic fibrosis ) is a common genetic disease that is inherited only. Its specific feature is the formation of viscous mucus throughout the body, as a result of which, first of all, the functioning of organs covered with a mucous membrane is disrupted: the digestive system, lungs and other vital organs. Most often, the disease manifests itself in infancy and requires well-coordinated interaction between the family and medical specialists in order to provide the child with timely, and therefore effective treatment.

Galactosemia is a cause that occurs when feeding with milk or dairy products, while internal organs (nervous system, liver) are affected. Following the doctor's instructions, treatment and a dairy-free diet will help to avoid consequences.

Adrenogenital syndrome - increased production of androgen hormones by the adrenal glands. If left untreated, then the reproductive system develops rapidly in children, and the overall growth stops, in the future - the person is infertile. The use of the necessary hormonal drugs restores development and removes the signs of the manifestation of the disease.

-Genetic Department (Moscow Center for Neonatal Screening).

The Medical Genetic Department (Moscow Center for Neonatal Screening) is located on the basis of the Morozov Children's Clinical Hospital.

- repeated blood sampling for confirmatory diagnostics;
- hospitalization of newborns with suspected adrenogenital syndrome, galactosemia, congenital hypothyroidism, phenylketonuria, cystic fibrosis (before or after receiving screening results) in a specialized department;
- dynamic (dispensary observation) on an outpatient basis;
- consulting by specialist doctors;
- issuance of medicines and specialized health food products.