Newborn screenings: The 35 conditions they’ll test your baby for and why
September 15, 2022
Mom kissing her newborn baby in hospital bed

    Newborn screenings: The 35 conditions they’ll test your baby for and why

    The first few days after welcoming a new baby can feel like a blur of joy and exhaustion. While a primary focus of this time will be fostering a bond between parents and baby, hospital team members will stop in regularly to make sure everyone is safe, healthy and recovering well from delivery. Part of this process will include taking your baby for a short period to conduct a series of newborn screenings.

    “Newborns born in hospitals and birthing centers in the U.S. are routinely screened for conditions that can impact their health and survival,” said Dr. Tiffany Kimbrough, pediatrician and medical director of our Mother-Infant Unit. “By detecting and diagnosing these conditions early, the goal is that we can begin providing care to help these babies meet their full potential as they grow.”

    Most newborn screenings are done with only a few drops of blood from a quick prick of baby’s heel. Tests are also routinely done to assess hearing and check for congenital heart defects.

    How will you know the results of your newborn’s screenings?

    Hearing that your baby may have a health condition can be scary. The good news is that newborn screenings help to catch them early so they can be treated.

    Some screening results, like the hearing test, will be shared with you immediately. Others may take a week or so to come back from the lab. If any of your baby’s test results are out of the normal range, their health care provider will contact you to explain the results and talk about next steps. This may include follow-up testing to confirm the results or beginning treatment to limit complications and get baby on the best track for a healthy future.

    What happens to the data after newborn screenings are completed?

    Normal samples are discarded. Abnormal results are stored at the state lab for a period of 10 years, because there are occasions when retesting is helpful to verify or disprove original results. They’re never used for research purposes or released without parental consent.

    What conditions will your newborn be screened for?

    Newborn screenings vary slightly from state to state. Babies in Virginia are screened for 35 conditions.

    3-hydroxy-3-methylglutaryl-CoA lyase deficiency
    With this inherited condition, the body has trouble breaking down proteins called leucine. The body doesn’t produce enough energy and waste products can build up. Without treatment, the body can become damaged, with severe cases leading to coma or death.

    3-methylcrotonyl-CoA carboxylase deficiency
    This inherited condition prevents the breakdown of leucine proteins into small enough pieces for the body to use or expel. Without enough of this enzyme, a baby will have trouble making enough energy.

    Argininosuccinic acidemia
    Babies with this inherited condition aren’t able to remove ammonia – a waste product of protein breakdown – from their system. The ammonia builds up and can damage the nervous system and liver.

    Beta ketothiolase deficiency
    This condition prevents the body from breaking down proteins with isoleucine and fats. Toxins can build up in the body, damaging the brain and other organs and tissues.

    Biotinidase deficiency
    Biotin is a vitamin that interacts with enzymes to break down proteins, fats and carbohydrates. Biotinidase recycles biotin back to its original form for reuse. In this inherited condition the body can’t make enough energy or properly get rid of toxins that can cause damage.

    Carnitine uptake deficiency
    This inherited condition involves not having enough OCTN2, a protein that breaks down fatty acids and turns them into energy. This can result in low blood sugar and inability to process waste, leading to damage of the liver and heart.

    In this inherited condition, the enzyme arginosuccinate synthase doesn’t work to properly remove ammonia from the body when protein is broken down. This can lead to toxic levels of ammonia, damaging the brain and nerves.

    Congenital adrenal hyperplasia
    Enzymes in the adrenal glands that produce hormones don’t work properly in this inherited condition. It most often impacts cortisol which regulates blood sugar and protects the body during stress, and aldosterone which maintains proper levels of sodium.

    Congenital hypothyroidism
    In this condition, the butterfly-shaped thyroid gland in the neck doesn’t develop or work properly. This can impact growth, development and regulation of many body processes including metabolism.

    Critical congenital heart disease
    Congenital heart disease means there is a structural problem with the heart that keeps it from functioning the way it should to pump blood—including oxygen and other important substances—through the body.

    Cystic fibrosis
    This is an inherited condition that causes buildup of a sticky, thick mucus in the body. This buildup in the lungs can block the airways and cause infection. It can also affect the digestive system and prevent the body from absorbing nutrients.

    This inherited condition impacts the enzymes that break down galactose, a sugar in milk and other foods, and turn it into glucose. These undigested sugars can build up, affecting growth and development.

    Glutaric acidemia type I
    Glutaryl-CoA dehydrogenase is an enzyme that helps break down lysine, hydroxylysine and tryptophan proteins. When these proteins aren’t digested, they can build up and damage blood, tissues and organs. The brain can be especially impacted by this condition.

    Hearing loss
    Hearing can be impaired by an issue with the ear or the part of the brain that processes sounds. Hearing loss impacts speech development and communication as babies grow, so it’s helpful to identify concerns early to tailor treatment and interaction appropriately.

    This inherited condition results in high levels of amino acids methionine or homocysteine because the body doesn’t process proteins properly. The result can be dangerous blood clots, or damage to the eyes and brain.

    Isovaleric acidemia
    In this inherited condition, the brain and nerves can be damaged because of low levels of the enzyme isovaleryl CoA dehydrogenase that breaks down proteins called leucine. Toxins build up and cause the blood to become acidic.

    Long chain hydroxyacyl-CoA dehydrogenase deficiency
    This inherited condition results from not enough of the enzymes that process long-chain fatty acids. When babies don’t make enough energy from fat, blood sugar can become dangerously low and toxins can build up damaging the eyes, heart and other muscles.

    Maple syrup urine disease
    In babies with this inherited condition, enzymes don’t work properly to break down branched-chain amino acids called leucine, isoleucine and valine. The body then can’t get rid of certain substances and the result is sweet smelling urine and earwax. These branched-chain amino acids can reach toxic levels, impacting breathing, weight gain and development.

    Medium chain acyl-CoA dehydrogenase deficiency
    Babies with this inherited condition don’t have enough medium-chain acyl-CoA dehydrogenase to break down medium-chain fatty acids and use them for energy. This can cause blood sugar levels to become dangerously low and, if severe enough, even lead to brain damage.

    Methylmalonyl adenosylcobalamin synthesis defects
    These inherited conditions result when vitamin B-12 isn’t processed correctly, and then can’t help the enzyme methylmalonyl CoA mutase break down proteins, fats and cholesterol and get rid of waste. Toxins can build up and result in acidic blood that damages the body.

    Methylmalonyl-CoA mutase deficiency
    In this genetic condition, the enzyme methylmalonyl-CoA mutase doesn’t work correctly to break down odd-chain fatty acids and the amino acids isoleucine, valine, methionine and threonine. This makes it difficult for baby to use fats and proteins for energy and can lead to breathing problems or brain damage if not treated.

    Mucopolysaccharidosis type I
    In this inherited condition, the body has none or low levels of the enzyme alpha-L-iduronidase that breaks down complicated sugars called glycosaminoglycans. High levels of glycosaminoglycans can cause damage throughout the body.

    Multiple CoA carboxylase deficiency
    This inherited condition involves the body’s inability to break down leucine, leading to dangerous levels of organic acids and toxins in the body. As a result, babies can develop in breathing problems, seizures, liver failure and coma.

    Babies with this inherited condition don’t make phenylalanine hydroxylase properly. Phenylalanine hydroxylase is an enzyme that breaks protein, in this case phenylalanine, into amino acids that then make other necessary proteins. When phenylalanine builds up it can cause damage to the brain and other parts of the body.

    Pompe disease
    This inherited disease develops when the enzyme acid alpha-glucosidase is not functioning properly to support the breakdown of glycogen, which is the way extra sugar is stored in the body. When glycogen builds up instead of being converted into energy, it can impact muscles and organs including the heart and liver.

    Proprionic acidemia
    In babies with this inherited condition, the enzyme propionyl-CoA carboxylase that helps digest certain fats, proteins and cholesterol doesn’t work properly to make energy and expel waste. Acidic toxins can build up in the blood and lead to brain damage.

    Severe combined immunodeficiency
    In this group of inherited conditions the immune system doesn’t work properly or at all. The baby can’t fight infections—even from the simplest germs—which can lead to life-threatening illness or death.

    Sickle beta thalassemia, sickle cell anemia and sickle hemoglobin C disease
    These inherited conditions affect hemoglobin in the red blood cells that carry oxygen throughout the body. The body makes less of the normal, round red blood cells and some abnormal, crescent or sickle shaped ones. The crescent shape can cause these red blood cells to get stuck in the blood vessels and leave parts of the body without enough oxygen, leading to serious infections, severe pain, difficulty breathing, and increased risk of strokes and blood clots.

    Spinal muscular atrophy
    In this inherited condition, baby can’t make enough survival motor neuron protein for motor neurons to carry messages from the brain to the muscles and control movement. The muscles then break down and become weak, resulting in difficulty breathing, swallowing and moving.

    Trifunctional protein deficiency
    Babies with this inherited condition don’t have enough mitochondrial trifunctional protein, a group of enzymes that process long-chain fatty acids so the body can use or dispose of them. Blood sugar can become low and toxins can build up, damaging the heart, liver and muscles.

    Tyrosinemia type I
    In this inherited condition, one of the enzymes that that breaks down the amino acid tyrosine doesn’t work as it should. When tyrosine can’t be completely broken down it sets the stage for succinylacetone to form. High levels of this toxin can damage the liver and kidneys.

    Very long chain acyl-CoA dehydrogenase deficiency
    Very long-chain acyl-CoA dehydrogenase is an enzyme that processes very long-chain fatty acids. When babies don’t have enough of it, they can’t break down fats and use them for energy. Instead waste can build up and damage the liver, heart and muscles.

    X-linked adrenoleukodystrophy
    This inherited condition involves a transporter protein needed to process very long-chain fatty acids not being made properly. The very long-chain fatty acids can then build up over time and damage the nervous system and adrenal glands that produce hormones.

    Access more detailed information about newborn screenings in Virginia or another state.

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