Asia Pacific Newborn Screening Finds Application in Screening for Genetic Disorders Such As Down syndrome
Asia Pacific newborn screening is an essential public health service of screening pregnant women for potentially treatable conditions but not technically detectable in the newborn phase. Newborn screening helps save lives and improve the quality of life of the child, but it is not a medical service. It is primarily concerned with preventing stillbirths, preterm births, Sudden Infant Death Syndrome (SIDS), and certain forms of cancer. Recently, in the U.S., The Kansas Department of Health and Environment, in January 2021, added two lysosomal storage disorders to the Kansas Newborn Screening blood spot panel: Pompe Disease and Mucopolysaccharidoses I (MPS I).
Newborn screening aims at preventing or reducing SIDS by avoiding potentially preventable causes and disorders. It screens for any condition or disorder that can affect the development of the baby and the mother such as underdevelopment of heart and circulatory systems or neurological problems. Screening for such conditions is performed before the baby is born so that adverse effects can be prevented.
Asia Pacific newborn screening screens for disorders such as spina bifida and sickle cell anemia. Screening for such disorders is done through prenatal tests or blood transfusions. When blood cells are received from a healthy donor, they can be used to develop healthy babies who do not have sickle cell anemia or other life-threatening diseases. As such, introducing new members into the family of an expecting mother who has had sickle cell anemia can help protect against the possibility of her contracting sickle cell anemia while in the womb.
Another branch of the newborn screening procedure is focused on genetic disorders. Screening for genetic disorders such as Down syndrome reduces the chances of the baby having serious health conditions. Through genetic counseling, parents are informed about the likely risks and benefits of certain lifestyle decisions. In this process, the mother and father are encouraged to make healthy choices concerning smoking, diet, exercise, and substance abuse. Screening tests provide results of such information allowing the parents and the doctor to work together to create a plan for caring for the new child.
Screening for amino acid metabolism disorders helps to reduce the occurrence of conditions such as phenylketonuria (PKU), which affects newborns whose kidneys fail to remove enough nitrogen. PKU may include such conditions as proteinuria (low levels of urine) or ketoacidosis (excessive acidity). Some other disorders that some may include at risk of developing include chronic kidney disease, cystic fibrosis, and cystitis. These problems are often present in babies whose mothers have been treated with some form of medication.
Newborn screening can be done in a number of different ways. If the newborn screening test conducted by the newborn screening unit does not identify a problem, the physician may refer the infant for a second screening at the hospital or the physician's office. If the newborn test results identify a problem, they will first need to perform a complete blood count (also known as a blood test). This step is important because the level of oxygen in the blood helps to determine the health of the heart and the baby. Babies with congenital heart and lung diseases will most likely require immediate medical attention. A chest x-ray may be performed if laboratory results suggest that the baby has a mild respiratory problem or abnormality. A CT scan or MRI may be necessary to further diagnose the problem. In very rare cases, birth defects may be detected by performing other lab tests, including genetic studies and chromosome analysis.
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