The most common birth defects in newborns


When a child is born, every parent worries about its health. Unfortunately, there are situations that force us to expand our knowledge of prevention, general knowledge, as well as the need for treatment. What is worth knowing about birth defects? Which of them appear most frequently?

What are birth defects?

Birth defects are developmental disorders that lead to abnormalities in different parts of the body. They are found in approximately 2-4% of all newborns. They are usually diagnosed as early as the prenatal screening stage, but sometimes the defect is not diagnosed until after birth.

Very often the occurrence of a birth defect in a child contributes to its death shortly after birth. Sometimes it is possible to live several years or decades with a birth defect, but this often depends on other people (parents, carers, nurses).

Birth defects can affect every system and organ of the human body, and they often go hand in hand with mental disabilities, defects or deformities. Some congenital defects may not show any symptoms for several years and become active only in adulthood – this is the case, for example, with heart defects.

The development of birth defects may be influenced by internal factors, i.e. changes in the chromosome system, but also by external (environmental) factors, i.e. contact with viruses, radiation, alcohol and drugs – if the mother drinks alcohol during pregnancy, there is an increased risk of birth defects in the child.

What are birth defects

Unfortunately, in most cases, it is not possible to clearly identify the cause of the defect, since more than 60% of cases are due to genetic factors and are not due to parental negligence.

Types of birth defects:

Birth defects can be divided into:

  • defects of the nervous system,
  • heart defects,
  • defects of the respiratory system,
  • defects of the digestive tract,
  • clefts,
  • defects of the genital and urinary systems,
  • defects of the muscular system.

The most common birth defects in children

Heart defects
Many newborns are diagnosed with heart abnormalities. According to studies, up to eight out of every thousand children have a congenital heart defect. Symptoms of this type of defect include bluish skin, shortness of breath, heart murmurs and a faster heartbeat.

The most common congenital heart defects are:

  • atrial septal defect,
  • persistent Botall’s ductus arteriosus,
  • aortic stenosis.

Respiratory tract defects

Congenital malformations located within the respiratory system are the second cause of neonatal death after heart defects. Most often they result from abnormalities of structure and the presence of cystic lesions.

The most common congenital anomaly is laryngomalacia, which manifests itself in loud breathing, however this usually disappears spontaneously with age. Adenomatous cystadenoma and cystic fibrosis are also very common. A more rare congenital anomaly is emphysema, which is characterised by shortness of breath and wheezing.

Neural tube defects

  • cleft lip and palate – improper or absent connection between the parts that form the lip or palate,
  • Spina bifida – failure to close the spinal canal,
  • hydrocephalus – excessive accumulation of cerebrospinal fluid,
  • cerebral aponeurosis – lack of brain and skull bones, the baby dies soon after birth,
    cerebral hernia – displacement of brain structures through a defect in the skull cap.

Defects of the urinary system

  • Kidney agenesis – a kidney is missing on one or both sides,
  • double kidney – one of the kidneys has double cup and pyelonephrosis,
  • horseshoe kidney – kidneys fused together from below,
  • Kidney dysplasia – abnormality in the structure of the kidney,
  • ectopic kidney – the kidney is in the wrong place,
  • bladder – no bladder at all,
  • vesicoureteral reflux – urine partially backs up into the ureters,
  • spodziectasia – the urethral orifice is located at the back of the penis,
  • urethra – incomplete closure of the anterior wall of the urethra.

Bone system defects

Bone system defects

Rickets – in Poland, in recent years, there has been a decrease in the amount of rickets in children. The reason for this is the use of vitamin D3 supplementation, which prevents the bones from bending under the influence of the weight of the body, as well as the flattening of the skull bones.

Children with a vitamin D3 deficiency tend to be sleepy and significantly weakened. Therefore, by administering vitamin D3 to infants, rickets is prevented and also treated.

Clubfoot – another congenital defect in infants related to the skeletal system is a deformity of one or both feet. The foot is equinovarus, bent in the sole (as if the child would like to walk on tiptoe) and is clubfoot, i.e. it is directed inwards.

The treatment of congenital clubfoot diagnosed begins with rehabilitation exercises, followed, if necessary, by a cast or braces.

If these methods fail to improve the foot so that the child can move properly, surgery will be necessary.


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