Congenital malformations are congenital disabilities or anomalies in the baby’s body during pregnancy. There are around 4000 different types of congenital malformations, which are divided into two categories:

  • Structural congenital malformations: Those in which the infant is born without a body part or with a deformity in that part. The most common are congenital cardiac defects and cleft palate, congenital hip dysplasia, spina bifida, and clubfoot.
  • Functional congenital malformations: This refers to an issue with the body’s chemical composition, such as those that influence the neurological, metabolic, or immunological systems. Down syndrome, deafness, blindness, congenital hypothyroidism, and Tay-Sachs illness are the most well-known.


According to World Health Organization data, 303,000 newborns die each year due to congenital abnormalities within the first four weeks of life. However, many of these disorders can be avoided if discovered early in pregnancy. Congenital abnormalities vary in severity, with some requiring no treatment, while others may require care and monitoring for a few years or life or even emergency surgery. Congenital abnormalities are a significant source of newborn mortality, disability, and chronic disorders. Congenital abnormalities occur in infrequent occurrences now, thanks to medical improvements. On the other hand, because many of them are rare or uncommon diseases, they provide a significant problem for thousands of families, who are significantly more powerless when confronted with an unknown sickness.

Symptoms of congenital malformations

Because a kid with anomalies does not create symptoms in the mother while in the womb, the only method to discover them is to perform a proper pregnancy follow-up and genetic and prenatal testing, the symptoms that induce congenital disabilities in newborns, on the other hand, vary greatly depending on the deformity and the degree to which it manifests. Some anomalies are undetectable or allow for a completely independent life, whereas others are crippling or necessitate lifelong therapy.

Medical tests for congenital malformations

The bulk of diagnostic tests for congenital abnormalities usually are performed during pregnancy as part of the regular check-ups with the specialist that the pregnant mother must-have. An ultrasound allows the gynaecologist to monitor the growth of the baby, which can discover a wide range of congenital disabilities, such as Down syndrome, during the first trimester of pregnancy or significant foetal anomalies up until the second trimester. During the first two trimesters of pregnancy, amniocentesis is another important test for detecting congenital deformities such as neural tube defects or chromosomal abnormalities. However, before pregnancy, it is also recommended that the couple undergo genetic testing to determine their chance of having a child with congenital disabilities, as some are hereditary.

What are the causes of congenital malformations?

The cause of the majority of these abnormalities is unknown; however, some factors have been identified that may be associated with the development of several of them:

  • Genetics of the parents
  • Abuse of certain types of drugs
  • The age of the mother
  • Illnesses that the mother suffers during pregnancy
  • Diet and health care are done during pregnancy

Can congenital malformations be prevented?

Gynaecology and obstetrics specialists, as well as healthcare organizations such as the World Health Organization, advocate a set of basic preventative methods for congenital malformations:

  • Take care of the pregnant woman’s nutrition, including the vital vitamins and minerals such as folic acid.
  • Tobacco, alcohol, and recreational drugs are all poisonous or hazardous substances that should be avoided.
  • Diabetes should be managed.
  • Avoid being exposed to poisonous or hazardous substances, such as insecticides.
  • As far as possible, limit your exposure to radiation and medicine ingestion.
  • Increase vaccination, particularly against the rubella virus.

Treatments for congenital malformations

Each patient’s treatment will differ depending on their deformity or congenital condition and their stage of development. Many congenital deformities can be fixed or improved through paediatric surgery, which can be performed even during pregnancy. In some circumstances, newborns may require pharmacological therapy from birth or immediate surgery to preserve their lives.

What specialist treats congenital malformations?

Gynaecologists and obstetricians who do prenatal exams are generally the first to notice any congenital deformities. A paediatric surgeon can intervene in the treatment of certain deformities, much as a paediatrician will be in charge of monitoring and assessing the baby after delivery. Speech therapists and psychologists, for example, may be involved in the treatment of congenital abnormalities.