Newborn care: neonatal screening for 5 genetic diseases.

Every mother's dream is for her child to be healthy, but unfortunately there are diseases that can have a negative impact from the very birth of the baby, among them:

Phenylketonuria
Congenital hypothyroidism
Cystic fibrosis
Adrenogenital syndrome
Galactosemia

It is important that the most negative consequences can be avoided by early diagnosis, namely through neonatal screening

Neonatal screening is one of the most effective ways to identify the most common congenital and hereditary diseases in newborns. It is a collection of several bloodstains from the heel of a child.

Why is it so important to get screened?

At birth, genetic diseases may not manifest themselves in any way. And when the symptoms become noticeable, unfortunately, precious time will be lost, and the consequences are already irreversible.

So why do screen if both parents are healthy?

The fact is that children inherit only part of the genetic material from their parents (50% from mom, 50% from dad), it happens that a parent has a breakdown in the genes, but it is overlapped by other stronger "dominant" genes and the parent can be healthy.

But it is the gene “with a breakage” that can be passed on to a child quite by accident, and if there is no stronger healthy gene in the baby's genetic set that could override the broken gene, the disease will manifest itself.

In addition, there is such a thing as spontaneous mutation: mutations that occur by chance, for the first time in this particular child. In this case, healthy parents can also have a special baby.

Diagnostics for 5 common genetic diseases is available in the OLYMP CDL:

Disease	The cause of the disease	How is it manifested?	Treatment
Phenylketonuria (PKU)	Metabolic disorders of the amino acid phenylalanine, which comes from food	Severe mental retardation, seizures	A special diet with a low content of phenylalanine, specialized mixtures
Congenital hypothyroidism (CH)	Violation of the formation of thyroid hormones	Severe impairment of mental and physical development	Hormone replacement therapy
Cystic fibrosis (CF)	Disruption of salt transport through cell membranes	Damage to the exocrine glands. Disruption of the respiratory and digestive systems	Complex treatment with enzymes, antibiotics, and other drugs
Adrenogenital syndrome (AGS)	Violation of the formation of adrenal hormones	Life-threatening condition or abnormal structure of the external genitalia	Hormone replacement therapy
Galactosemia (GAL)	Violation of the metabolism of galactose (milk sugar), which comes from food	Life-threatening condition, mental retardation, cataract	A special low-galactose diet

More detailed:

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