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Congenital pathologies: what they are and how to detect them at an early stage
What are congenital pathologies?
Congenital pathologies are structural or functional disorders that arise during the intrauterine development of a child. They can be detected immediately after birth or after a certain time, when symptoms become noticeable. Congenital defects can affect any system of the body: cardiovascular, nervous, musculoskeletal, digestive, etc.
According to the World Health Organization (WHO), About 61% of newborns in the world have one or more congenital pathologies.. In most cases, these conditions are amenable to early diagnosis and, if necessary, medical or surgical intervention.
Causes of congenital pathologies
| Factor | Description |
|---|---|
| Genetic | Hereditary diseases, gene mutations, or chromosomal abnormalities |
| Exogenous (external)** | Exposure to toxins, alcohol, medications, infections during pregnancy |
| Infectious | TORCH group infections: toxoplasmosis, rubella, cytomegalovirus, herpes |
| Metabolic | Metabolic disorders in the mother or fetus |
| Unidentified | Some defects have no clear cause |
Types of congenital pathologies
Congenital anomalies are divided into structural and functional.
Structural (anatomical) defects:
heart defects (tetrad of Fallot, atrial or ventricular septal defects)
cleft lip and palate
neural tube defects (spina bifida)
congenital limb deformities
gastrointestinal atresia
Functional (metabolic or genetic):
phenylketonuria
cystic fibrosis
galactosemia
deafness
visual impairment, mental development
How are congenital pathologies detected?
1. Prenatal diagnosis
Fetal ultrasound at 12–13 and 20–22 weeks of pregnancy
I and II trimester screening (blood test for biochemical markers)
Non-invasive prenatal testing (NIPT)
Amniocentesis, chorionic biopsy - according to indications (invasive methods)
2. Neonatal screening
It is carried out in the first days of life. In Ukraine, mandatory ones include:
phenylketonuria
hypothyroidism
cystic fibrosis
adrenogenital syndrome
galactosemia
biotinidase deficiency
3. Postnatal examination
If the pathology is not detected immediately, it may manifest itself over time - in the form of developmental delay, seizures, difficulties with feeding or breathing. In such cases, the child is referred to specialists (neurologist, cardiologist, geneticist).
Why early diagnosis is important
Reduces risk complications and disability
Allows begin treatment or correction in a critical period of development
Enables parents to prepare psychologically and plan care
In cases of severe pathologies - make informed decisions regarding the management of pregnancy or the life of the child
Promotes social adaptation child
Practical example
The newborn undergoes mandatory neonatal screening on day 3. The analysis reveals an elevated level of phenylalanine. Repeat testing confirms phenylketonuria. The child is prescribed a special diet that helps to avoid mental retardation. Thanks to early diagnosis, the child maintains a full quality of life.
Understanding the nature of congenital pathologies and their early detection is key to ensuring that every child, regardless of starting conditions, has a chance to live a full life with minimal limitations.
