“This is a preventive test whose objective is to support your baby’s health and quality of life. Most of these diseases are very rare but treatable if they are detected and treated in a timely manner, allowing action to be taken before symptoms and sequelae appear, which are generally neurological injuries. In addition, because they are genetic diseases, they have the risk of recurrence in the family, says Dr. Jorge Mucha, pediatrician and intensive care neonatologist at our clinic.

What is new born screening?

New-born screening tests look for metabolic, genetic, and developmental disorders in new-born babies. Its main objective is to discover diseases with serious and irreversible consequences (such as mental retardation or even death) that will manifest weeks or months after birth but that cannot be detected at birth, allowing them to be treated in a timely manner.

At Clinica Ricardo Palma, the following screening is performed:

• Ophthalmological screening. It is performed by the neonatologist one day before discharge, seeking to detect the congenital cataract.
• Hearing screening. It is performed by the otolaryngologist with medical equipment that measures otoacoustic emissions to detect congenital deafness.
• Basic metabolic screening. It is taken on the day of discharge, making a small puncture in the heel to take a few drops of blood that will be analyzed in the laboratory.

When should you perform neonatal screening for your baby?

It is recommended to carry out this test from the second day and before the seventh day of birth. If this is not possible, it is suggested to carry it out before the child is 30 days old.

Types of screening

• It detects 5 diseases that are the most frequent within this group: Congenital hypothyroidism (neonatal TSH), Congenital adrenal hyperplasia (17 OH progesterone), Phenylketonuria (PKU), Cystic Fibrosis (CRI).
• Extended. In addition to the basic ones, it includes: amino acid profile, acetyl carnitine profile. Depending on the laboratory, they can be from 25 to more than 100 types of diseases.

What diseases do they detect?

• Congenital hypothyroidism. Deficiency in the production of thyroid hormone, essential for brain development and growth.
• Congenital adrenal hyperplasia. It is an error in the production of hormones from the adrenal gland, which causes ambiguous genitalia in women and a loss of salts and dehydration in both sexes.
• Phenylketonuria. Deficiency in the metabolism of an amino acid, which produces neurological damage, seizures and mental retardation.
• Cystic fibrosis. It affects the transport of salts to the cells, causing thick secretions in the lungs and intestine, which generates serious respiratory and digestive symptoms.
• Amino acid profile. Group of rarer diseases related to metabolism, such as: arginosuccinic aciduria, tyrosinemia, homocystinuria, hypermeforminemia, maple syrup urine disease, etc.
• Acetyl carnitines profile: Isovaleric acidemia, glutaric acidemia, methylmalonic acidemia, carnitine deficiency, trifunctional protein deficiency.

Dr. Jorge Mucha
Pediatrician and Intensive Care Neonatologist at Clínica Ricardo Palma