Congenital Anomalies Definition, Reason, Symptoms, Treatment & Prevention
Understanding
Congenital anomalies are anatomical abnormalities or body function abnormalities that occur at birth or while still in the womb. People are more familiar with the term congenital defects.
According to the World Health Organization, congenital abnormalities are one of the most common causes of death in newborns. In the world, there are hundreds of types of congenital abnormalities that can occur. This article will discuss congenital abnormalities in general.
Symptoms
Symptoms of congenital abnormalities vary, depending on the type of congenital abnormality experienced. Some of the symptoms of congenital abnormalities that are often encountered are:
- Trisomy 13
Trisomy 13 or known as Patau syndrome, is a disorder caused by an abnormality on chromosome 13. This disorder is characterized by multiple defects such as heart valve abnormalities, mental retardation, having more fingers than normal, and so on.
- Trisomy 21
Trisomy 21 or referred to as Down syndrome is an abnormality of chromosome 21. This disorder is characterized by mental retardation, stunted growth, a large tongue, flat head and nose, face like the Mongolian race.
- Cleft Cleft
is characterized by a gap in the lips, gums or palate which causes the lips, gums or palate not to close tightly.
- Spina bifida
Spina bifida is characterized by the spine not closing tightly causing a lump filled with nerves or nerve sheaths to appear in the spine.
Reason
Most of the congenital abnormalities are not known with certainty the cause. However, there are several things that are known to be risk factors for congenital abnormalities, namely:
- Genetic factors: if the father/mother has genes that can cause congenital abnormalities, then the child will have a high risk of experiencing these disorders. Marriage between men and women who are still related by blood also causes congenital abnormalities to occur.
- Low socioeconomic: although there is no clear relationship yet, >90% of congenital abnormalities occur in people with low socio-economic conditions.
- Pregnant women who consume alcohol or are exposed to smoking: alcohol and smoking can interfere with the development of the fetus in the womb so that congenital abnormalities are more prone to occur.
- Infection: infections in pregnant women – such as syphilis, rubella, and toxoplasma infections, are the most common causes of congenital abnormalities.
- Deficiency of folic acid: deficiency of folic acid in the womb causes the fetal nerve sheath to not close completely. This disorder is called spina bifida.
Diagnosis
Congenital abnormalities in infants are often known too late because they generally do not cause clear symptoms. Therefore, it is necessary to screen newborns.
Screening is carried out in the form of routine blood tests (hemoglobin, leukocytes, and platelets), hormone levels (eg thyroid hormone), screening of hearing function, and vision function. If there are abnormalities, it can be followed by examining the genes from the blood.
Treatment
Treatment for congenital abnormalities does not aim to eliminate the abnormalities that occur. Treatment is done to help sufferers to live optimally.
Several types of congenital abnormalities require surgery for treatment. Exercise and medical rehabilitation are generally needed so that people with congenital disorders can be independent in carrying out their daily activities.
Prevention
To prevent the birth of babies with congenital abnormalities, it is necessary to screen prospective fathers and expectant mothers before pregnancy occurs. The screening includes taking a family history, blood, and gene tests. If the prospective father or expectant mother has a gene for congenital abnormalities, genetic counseling needs to be carried out before planning a pregnancy.