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As new parents, the most important thing for you right now is to make sure that your baby is as healthy as can be. This is why neonatal screening tests are necessary—they help you detect problems if there are any and to find a solution as soon as possible. There are four common neonatal screening tests that all parents should know.
A baby has congenital hypothyroidism if their body does not produce enough thyroid hormones. Common symptoms include jaundice (yellow skin or eyes), constipation, hypotonia (weak muscle tone), and swelling around the eyes or of the tongue. This endocrine disorder affects one in about 3,500 babies in the United Kingdom.
The neonatal screening test for congenital hypothyroidism should be performed between three to seven days after birth, preferably before the baby is taken home from the children’s hospital or whatever medical facility they were delivered in.
Galactosemia is the condition wherein the body is unable to properly process galactose, a simple sugar that is found in lactose, which is a primary component of milk. If a baby has galactosemia, they may experience convulsions, irritability, and vomiting when fed with formula or breastmilk. This disorder is rare with only one in 45,000 babies affected in the United Kingdom. However, there is currently no cure for it. The doctor may suggest a different diet for the baby if they tested positive with galactosemia, like soy milk.
If the baby shows one or more of the above symptoms after feeding, the doctor will recommend a galactosemia test in the next day or two to confirm whether your child has galactosemia. The galactose levels in the blood will have increased significantly if they do.
Phenylketonuria (PKU) is a disorder that affects a baby’s metabolism, particularly their ability to process an amino acid called phenylalanine. A baby affected by PKU won’t immediately show symptoms in the first few months after birth. However, if left undetected, a baby may develop symptoms including a musty odour (breath, skin, or urine), eczema, microcephaly, neurological problems (with seizures), learning disabilities, and psychiatric disorders. In the United Kingdom, one in 10,000 babies are born with PKU.
Within 24 to 72 hours after birth, if the baby has already been fed, a PKU test will be done. There is currently no cure for PKU but there are treatments to manage its symptoms, especially in babies whose brains are still developing.
Sickle Cell Disease
Sickle cell disease results in irregularly-shaped red blood cells that can lead to blockage in the blood flow, depriving the body and its organs of oxygen. Its symptoms include anaemia, swelling of the hands and feet, chronic pain, jaundice, and vision problems. Every year, approximately 350 babies are born with sickle cell disease in the UK.
Most hospitals will require a neonatal screening test for sickle cell disease. Currently, the only cure for sickle cell disease is a bone marrow transplant, but this is only done for severe cases.
To ensure the health of your baby and to avoid complications, make sure to get neonatal screening tests for congenital hypothyroidism, galactosemia, phenylketonuria, and sickle cell disease. Check out Guy’s and St Thomas’ Private Healthcare for more information.S