Diseases Detected By Neonatal Screening Test

Newborn screening or neonatal screening test, as it is called, is an examination performed on all newborn babies, between the third and sixth day of their lives.

The data collected goes to the laboratory, together with the mother’s identification data, address and contact details. If the result of the test indicates the presence of any disease, the family is contacted and the baby should go for further tests to confirm the diagnosis of the disease. In some cases, the laboratory technician might recommend a follow up medical consultation.

Diseases detected by basic screening neonatal test for newborns.

Here is a list of the most common diseases detected by a basic screening test:

  • Phenylketonuria: This is a disease that hampers the neurological development of a child.
  • Congenital Hypothyroidism: This disease can lead to mental retardation and physical defects.
  • Sickle Cell Anemia: Sickle cell anemia can cause the child to have chronic pain or fatigue.
  • Congenital Adrenal Hyperplasia: This disease causes the child to have excessive and scarcity of sex hormones which can lead to a change in the sex characteristics of the child.
  • Cystic Fibrosis: This is a disease that affects mostly the liver, results in the production of large amounts of mucus and leads to respiratory problems.
  • Biotinidase Deficiency: Biotinidase deficiency can lead to seizures, lack of body coordination, developmental delay and loss of hair.

The number of diseases detected in a basic neonatal screening might vary from state to state. However, in most of the parts of the world, a baby is always checked for phenylketonuria and congenital hypothyroidism.

Diseases detected by advanced screening neonatal test for newborns

An advanced neonatal screening blood test performed on a baby tests for diseases such as:

  • Galactosemia: This is a disease where the child cannot digest the sugar contained in milk. Sugar given to a baby suffering from this complication can lead to impairment of the central nervous system.
  • Congenital Toxoplasmosis: This disease can be very dangerous to such an extent that it causes blindness, jaundice, seizures or mental retardation.
  • Glucose-6-Phosphate Dehydrogenase: This disease facilitates the onset of anemia; severe cases can lead to kidney failure or death in rare cases.
  • Congenital Syphilis: This is a serious disease that can lead to impairment of the central nervous system.
  • AIDS: AIDS leads to a serious impairment of the body’s immune system and still has no cure.
  • Congenital Rubella: Congenital Rubella causes birth defects such as cataracts, deafness, and mental retardation. In some instances, there can also be cardiac defects.
  • Congenital Herpes: This rare disease can cause skin lesions while affecting the central nervous system.
  • Congenital Cytomegalovirus Disease: This disease can generate cerebral calcifications and motor retardation.
  • Congenital Chagas Disease: This infectious disease can cause mental retardation along with psychomotor and ocular abnormalities.

The above list includes most of the diseases that are generally detected by the neonatal screening. Usually the advanced newborn screening is only carried out if there are signs of the disease in the baby or the parents of the baby are known to carry any of the aforementioned diseases.

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