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 Disorder Symptoms Test
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
Cystic Fibrosis

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