Health Test

What are the Symptoms and Tests for Neonatal Screening?

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.

Genetic DisorderSymptomsTest
Congenital HypothyroidismMental retardation, Poor Growth and Neurological CapabilitiesThyroxine
Congenital Adrenal HyperplasiaAmbiguity of genitalia, salt wasting diseases, Hyponatremia, Hypovolemia17-Hydroxy Progesterone
Glucose 6 Phosphate Dehydrogenase deficiencyAnemia, Neonatal Jaundice, HemolysisG6PD
GalactosemiaLiver failure, Sepsis, Mental retardation. If unchecked can lead to deathGal-1-P / Galactose
PhenylketonuriaSevere mental retardation, microcephaly, epilepsyPhenylalanine
Cystic FibrosisChronic Obstructive Lung Disease with thick secretions and recurrent infectionsPancreatic insufficiency leading to digestive problemsPersistent coughing and poor weight gainImmuno reactive Trypsinogen
Hemoglobinopathies – Thalassemia, Sickle CellChronic Hemolytic AnemiaHemoglobin
Maple Syrup Urine DiseaseIncreased leucine levels lead to Mental Retardation Difficulty in walking, speech, seizure and deathLeucine
Biotindase deficiencySeizures, rash, hearing loss and developmental delayBiotindase
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