Newborn screening tests are typically performed within 72 hours of birth for any disorders of diseases that might affect the baby’s normal functions. Metabolic disorders, blood diseases, genetic disorders,are detected early through these tests. The idea is to perform the tests and detect diseases if any at the earliest stage possible so that the necessary treatment can be provided at the very starting of the disease and it can be cured. Some of the metabolic disorders are fatal like CAH and Maple Syrup Urine Disease. It is also important to keep in mind here that the tests are just to check the symptoms and should not be considered as the final diagnosis.
A confirmation of a disorder gives ample time of doctors to effectively treat the disease.
Below is a list of genetic disorders, their symptoms and the corresponding tests.
|Congenital Hypothyroidism||Mental retardation, Poor Growth and Neurological Capabilities||Thyroxine|
|Congenital Adrenal Hyperplasia||Ambiguity of genitalia, salt wasting diseases, Hyponatremia, Hypovolemia||17-Hydroxy Progesterone|
|Glucose 6 Phosphate Dehydrogenase deficiency||Anemia, Neonatal Jaundice, Hemolysis||G6PD|
|Galactosemia||Liver failure, Sepsis, Mental retardation. If unchecked can lead to death||Gal-1-P / Galactose|
|Phenylketonuria||Severe mental retardation, microcephaly, epilepsy||Phenylalanine|
Chronic Obstructive Lung Disease with thick secretions and recurrent infections
Pancreatic insufficiency leading to digestive problems
Persistent coughing and poor weight gain
|Immuno reactive Trypsinogen|
|Hemoglobinopathies – Thalassemia, Sickle Cell||Chronic Hemolytic Anemia||Hemoglobin|
|Maple Syrup Urine Disease||
Increased leucine levels lead to Mental Retardation
Difficulty in walking, speech, seizure and death
|Biotindase deficiency||Seizures, rash, hearing loss and developmental delay||Biotindase|