{"id":9137,"date":"2024-11-01T11:19:59","date_gmt":"2024-11-01T09:19:59","guid":{"rendered":"https:\/\/medilab.km.ua\/?p=9137"},"modified":"2026-04-20T18:55:20","modified_gmt":"2026-04-20T15:55:20","slug":"what-are-congenital-pathologies-and-how-are-they-detected-at-an-early-stage","status":"publish","type":"post","link":"https:\/\/medilab.km.ua\/en\/what-are-congenital-pathologies-and-how-are-they-detected-at-an-early-stage\/","title":{"rendered":"Congenital pathologies: what they are and how to detect them at an early stage"},"content":{"rendered":"
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\n 4.9\/5 - (2337 votes) <\/div>\n <\/div>\n

What are congenital pathologies?<\/strong><\/h2>\n

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.<\/p>\n

According to the World Health Organization (WHO), About 61% of newborns in the world have one or more congenital pathologies.<\/strong>. In most cases, these conditions are amenable to early diagnosis and, if necessary, medical or surgical intervention.<\/p>\n

Causes of congenital pathologies<\/strong><\/h2>\n
\n
\n\n\n\n\n\n\n\n\n\n
Factor<\/strong><\/th>\nDescription<\/strong><\/th>\n<\/tr>\n<\/thead>\n
Genetic<\/td>\nHereditary diseases, gene mutations, or chromosomal abnormalities<\/td>\n<\/tr>\n
Exogenous (external)**<\/td>\nExposure to toxins, alcohol, medications, infections during pregnancy<\/td>\n<\/tr>\n
Infectious<\/td>\nTORCH group infections<\/a>: toxoplasmosis, rubella, cytomegalovirus, herpes<\/td>\n<\/tr>\n
Metabolic<\/td>\nMetabolic disorders in the mother or fetus<\/td>\n<\/tr>\n
Unidentified<\/td>\nSome defects have no clear cause<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<\/div>\n<\/div>\n

Types of congenital pathologies<\/strong><\/h2>\n

Congenital anomalies are divided into structural<\/strong> and functional<\/strong>.<\/p>\n

Structural (anatomical) defects:<\/strong><\/h3>\n
    \n
  • \n

    heart defects (tetrad of Fallot, atrial or ventricular septal defects)<\/p>\n<\/li>\n

  • \n

    cleft lip and palate<\/p>\n<\/li>\n

  • \n

    neural tube defects (spina bifida)<\/p>\n<\/li>\n

  • \n

    congenital limb deformities<\/p>\n<\/li>\n

  • \n

    gastrointestinal atresia<\/p>\n<\/li>\n<\/ul>\n

    Functional (metabolic or genetic):<\/strong><\/h3>\n
      \n
    • \n

      phenylketonuria<\/p>\n<\/li>\n

    • \n

      cystic fibrosis<\/p>\n<\/li>\n

    • \n

      galactosemia<\/p>\n<\/li>\n

    • \n

      deafness<\/p>\n<\/li>\n

    • \n

      visual impairment, mental development<\/p>\n<\/li>\n<\/ul>\n

      \"The<\/p>\n

      How are congenital pathologies detected?<\/strong><\/h2>\n

      1. Prenatal diagnosis<\/strong><\/h3>\n
        \n
      • \n

        Fetal ultrasound at 12\u201313 and 20\u201322 weeks of pregnancy<\/p>\n<\/li>\n

      • \n

        I and II trimester screening (blood test for biochemical markers)<\/p>\n<\/li>\n

      • \n

        Non-invasive prenatal testing (NIPT)<\/p>\n<\/li>\n

      • \n

        Amniocentesis, chorionic biopsy - according to indications (invasive methods)<\/p>\n<\/li>\n<\/ul>\n

        2. Neonatal screening<\/strong><\/h3>\n

        It is carried out in the first days of life. In Ukraine, mandatory ones include:<\/p>\n

          \n
        • \n

          phenylketonuria<\/p>\n<\/li>\n

        • \n

          hypothyroidism<\/p>\n<\/li>\n

        • \n

          cystic fibrosis<\/p>\n<\/li>\n

        • \n

          adrenogenital syndrome<\/p>\n<\/li>\n

        • \n

          galactosemia<\/p>\n<\/li>\n

        • \n

          biotinidase deficiency<\/p>\n<\/li>\n<\/ul>\n

          3. Postnatal examination<\/strong><\/h3>\n

          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).<\/p>\n

          Why early diagnosis is important<\/strong><\/h2>\n
            \n
          • \n

            Reduces risk complications<\/strong> and disability<\/p>\n<\/li>\n

          • \n

            Allows begin treatment or correction<\/strong> in a critical period of development<\/p>\n<\/li>\n

          • \n

            Enables parents to prepare psychologically<\/strong> and plan care<\/p>\n<\/li>\n

          • \n

            In cases of severe pathologies - make informed decisions<\/strong> regarding the management of pregnancy or the life of the child<\/p>\n<\/li>\n

          • \n

            Promotes social adaptation<\/strong> child<\/p>\n<\/li>\n<\/ul>\n

            Practical example<\/strong><\/h2>\n

            The newborn undergoes mandatory neonatal screening on day 3. The analysis reveals an elevated level of phenylalanine. Repeat testing confirms phenylketonuria<\/strong>. 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.<\/p>\n

            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.<\/p>","protected":false},"excerpt":{"rendered":"

            What are congenital pathologies? Congenital pathologies are structural or functional disorders that arise during the intrauterine development of a child.<\/p>","protected":false},"author":627,"featured_media":9138,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-9137","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-uncategorized"],"yoast_head":"\n\u0412\u0440\u043e\u0434\u0436\u0435\u043d\u0456 \u043f\u0430\u0442\u043e\u043b\u043e\u0433\u0456\u0457: \u0432\u0438\u0434\u0438, \u043f\u0440\u0438\u0447\u0438\u043d\u0438 \u0442\u0430 \u043c\u0435\u0442\u043e\u0434\u0438 \u0434\u0456\u0430\u0433\u043d\u043e\u0441\u0442\u0438\u043a\u0438<\/title>\n<meta name=\"description\" content=\"\u0414\u0456\u0437\u043d\u0430\u0439\u0442\u0435\u0441\u044c, \u0449\u043e \u0442\u0430\u043a\u0435 \u0432\u0440\u043e\u0434\u0436\u0435\u043d\u0456 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