Understanding Congenital Abnormalities and Their Causes

Congenital abnormalities or congenital abnormalities are: abnormalities that are present at birth. This condition is causedby disturbance during growth flower fetus in the womb. Kcongenital abnormalities can cause the baby to be born with disability or dysfunctionon organs body or certain body parts.

Data from the WHO shows that there are more than 8 million babies worldwide born with congenital abnormalities every year. Of the many babies born with these congenital or congenital abnormalities, around 300,000 babies die within a few days to 4 weeks after birth.

In Indonesia alone, it is estimated that there are around 295,000 cases of congenital abnormalities per year and this figure accounts for about 7% of infant mortality.

Some babies born with congenital abnormalities survive. However, these babies are generally at high risk for developing health problems or disabilities in certain organs or body parts, such as the feet, hands, heart, and brain.

Congenital abnormalities can occur in any phase of pregnancy. However, most cases of congenital abnormalities occur in the first trimester of pregnancy, when the organs of the fetus are just starting to form. This disorder can be detected during pregnancy, when the baby is born, or during the child's growth and development.

Several Factors Cause Congenital Abnormalities

There are several factors that can cause a baby to be born with congenital abnormalities, namely:

genetic factors

Every genetic trait that determines the shape and function of body organs is carried by chromosomes. Chromosomes are components that carry genetic material that is passed from parents to children. The normal human chromosome number is 23 pairs. Each pair of chromosomes comes from the mother's egg and the father's sperm that met during the fertilization process.

When there is a chromosomal abnormality or genetic abnormality, for example in a child who is born without 46 chromosomes or is born with an excess of chromosomes, then he or she can have congenital abnormalities. This genetic disorder can be hereditary or occur due to mutations or changes in genetic traits in the fetus when he was conceived.

Environmental factor

Exposure to radiation or certain chemicals in pregnant women, such as pesticides, drugs, alcohol, cigarette smoke, and mercury, can increase the risk of the baby having congenital abnormalities. This is because the toxic effects of these substances can interfere with the process of fetal growth and development.

Maternal nutritional factors during pregnancy

It is estimated that about 94% of cases of congenital abnormalities found in developing countries occur in babies born to mothers with poor nutrition during pregnancy.

Mothers with this condition usually lack the intake of essential nutrients that play a role in supporting the formation of fetal organs in the womb. The nutrients that are important for pregnant women and fetuses include folic acid, protein, iron, calcium, vitamin A, iodine, and omega-3.

In addition to poor nutrition, mothers who are obese during pregnancy also have a high enough risk of giving birth to babies with congenital abnormalities.

Factors of the condition of pregnant women

During pregnancy, there are many conditions or diseases in the mother that can increase the risk of the fetus in the womb to have congenital abnormalities. Some of these conditions and diseases include:

  • Infections during pregnancy, such as amniotic fluid infection, syphilis, rubella, or the zika virus.
  • Anemia during pregnancy.
  • Pregnancy complications, such as gestational diabetes and preeclampsia.
  • Side effects of drugs taken during pregnancy.
  • Unhealthy habits during pregnancy, such as using drugs, consuming alcoholic beverages, and smoking.
  • Age of pregnant women who are quite old when pregnant. Several studies state that the older the mother is during pregnancy, the higher the risk of congenital abnormalities in the baby she is carrying.

The Most Common Congenital Abnormalities in Babies

Congenital abnormalities or congenital abnormalities in infants can be grouped into two, namely:

Physical abnormalities

Abnormalities or physical defects in the baby's body that are often encountered are:

  • Cleft lip (cleft lip and palate).
  • Congenital heart disease.
  • Neural tube defects, such as spina bifida and anencephaly.
  • Skin disorders, such as Harlequin ichthyosis
  • Abnormal body parts, such as clubfoot or crookedness.
  • Deformity and location of the pelvic bones (congenital hip dislocation).
  • Abnormalities in the gastrointestinal tract, such as Hirschsprung's disease, gastrointestinal fistula, and anal atresia.

Functional disorders

Functional disorders are birth defects associated with disorders of body systems and organ functions. Some types of functional disorders or defects that often occur are:

  • Disorders of brain and nerve function, such as Down's Syndrome.
  • Metabolic disorders, such as hypothyroidism and phenylketonuria.
  • Disorders of the senses of the body, such as deafness and blindness (eg due to congenital cataracts or cataracts in infants).
  • Musculoskeletal disorders, eg muscular dystrophy and cri du chat syndrome.
  • Blood disorders, such as hemophilia, thalassemia, and sickle cell anemia.
  • Premature aging, such as progeria.

Early Detection and Treatment of Congenital Disorders

Congenital abnormalities can be detected since the fetus is still in the womb. This condition can usually be examined by an obstetrician, including a fetomaternal subspecialist obstetrician. To detect whether there are congenital abnormalities in the fetus, the doctor can perform an ultrasound examination of the womb, fetal blood tests, genetic tests, and amniocentesis or amniotic fluid sampling.

However, sometimes congenital abnormalities are only detected when the baby is born or after he is a child, even after adulthood. Congenital abnormalities usually go undetected because the mother rarely or at all does not perform an obstetrical examination during pregnancy.

After being diagnosed with a congenital disorder, the baby or child needs to receive treatment, such as administering drugs, physiotherapy, using assistive devices, to surgery to repair defective parts or organs. The type of treatment will be chosen according to the type of abnormality that occurs.

In many cases, congenital abnormalities cannot be prevented, especially those that are hereditary. However, there are several efforts to reduce the risk of this condition, including:

  • Eat a balanced nutritious diet.
  • Immunize according to doctor's advice.
  • Quitting smoking or inhaling secondhand smoke.
  • Limit consumption of alcoholic beverages.
  • Do exercise regularly.
  • Get enough sleep and avoid excessive stress during pregnancy.

The important thing that you also have to do is to have regular pregnancy check-ups at the obstetrician, especially if there is a history of congenital abnormalities in the family. If the child shows any congenital abnormalities, immediately check his condition to the pediatrician to get the right treatment.