Understanding Congenital Disorders and Their Causative Factors
Congenital abnormalities or congenital abnormalities are abnormalities acquired from birth. Disturbances cause this condition during the growth and development of the fetus in the womb. Genetic abnormalities can cause babies to be born with disabilities or impaired functioning of specific organs of the body or parts of the body.
Data from WHO shows that more than 8 million babies yearly are born with congenital abnormalities. Of the many babies born with genetic or congenital abnormalities, about 300,000 babies die in just 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 the infant mortality rate.
Some babies born with congenital abnormalities can live. However, the baby is generally at high risk of experiencing health problems or disabilities in specific organs or parts of the body, 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 fetal organs are just beginning to form. This disorder can be detected during pregnancy when the baby is born or during the child's growth and development.
Some Factors Causing Congenital Abnormalities
Several factors can cause a baby to be born with congenital abnormalities; among them:
1. Genetics
Chromosomes carry any genetic trait that determines the shape and function of body organs. Chromosomes are carrier components of genetic material passed from parent to child.
The number of normal chromosomes of a human being there are 23 pairs. Each pair of chromosomes comes from the mother's egg and the father's sperm, which meet during fertilization.
When a chromosomal or genetic abnormality occurs, for example, in a child born without 46 chromosomes or with an excess of chromosomes, he can develop congenital abnormalities. This genetic disorder can be hereditary or occur due to mutations or changes in genetic traits in the fetus when it is conceived.
2. Environment
Exposure to radiation or certain chemical substances in pregnant women, such as pesticides, drugs, alcohol, cigarette smoke, and mercury, can increase the baby's risk of congenital abnormalities. This is because the toxic effects of these substances can interfere with the process of fetal growth and development.
3. Maternal nutrition during pregnancy
It is estimated that about 94% of congenital abnormalities found in developing countries occur in babies born to malnourished mothers during pregnancy.
Mothers with this condition usually lack the intake of essential nutrients that support the formation of fetal organs in the womb. The vital nutrients for pregnant women and the fetus 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 disorders.
4. Condition of pregnant women
When pregnant, many conditions or diseases in the mother can increase the risk of the fetus in the womb developing congenital abnormalities. Some of these conditions and diseases include:
- Infections during pregnancy include amniotic water infection, Sifilis, rubella, or zika virus.
- Anemia during pregnancy
- Complications of pregnancy, such as gestational diabetes and preeclampsia
- Side effects of drugs taken while pregnant
- Unhealthy habits are carried out during pregnancy, such as using drugs, consuming alcoholic beverages, and smoking.
- Pregnant women are pretty old because the more senior the mother ages during pregnancy, the higher the risk of congenital abnormalities in the baby she carries.
Congenital Disorders That Occur in Many Babies
Congenital abnormalities or congenital abnormalities in infants can be grouped into two, namely physical abnormalities and functional abnormalities. The following is the explanation:
Physical abnormalities
Some abnormalities or physical defects in the baby's body that are often encountered, including:
- Cleft lip (cleft lip and palate)
- Congenital heart disease
- Neural tube defects, such as spina bifida and anencephaly
- Abnormal body parts, such as clubfoot or bent
- Deformity and location of the pelvic bones (congenital pelvic dislocation)
- Abnormalities in the gastrointestinal tract, such as Hirschsprung's disease, gastrointestinal fistulas, as well as atresia
Functional abnormalities
Functional abnormalities are congenital disabilities associated with disruption of the systems and functions of body organs. Some types of abnormalities or functional disabilities that often occur, among them:
- Disorders of brain and nerve function, such as Down Syndrome
- Metabolic diseases, such as hypothyroidism and phenylketonuria
- Conditions of the body's senses, such as deafness and blindness (e.g. due to congenital cataracts)
- Abnormalities in the muscles, for example, muscular dystrophy
- Abnormalities in the blood, such as hemophilia, thalassemia, and sickle cell anemia
Early Detection and Treatment of Congenital Abnormalities
Congenital abnormalities can be detected when the fetus is still in the womb. To see whether there are congenital abnormalities in the fetus, the doctor can perform an ultrasound examination of the womb, fetal blood tests, genetic tests, amniocentesis, or sampling of amniotic fluid.
However, congenital abnormalities are sometimes only detected when the baby is born or after he is a child, even after adulthood. Genetic abnormalities are usually not seen because the mother rarely or in no way performs a gynecological examination during pregnancy.
After being diagnosed with congenital abnormalities, the baby or child needs to get treatment, such as the administration of medicines, physiotherapy, the use of aids, to surgery to repair defective parts or organs of the body. The type of treatment will be selected according to the abnormality that occurs.
In many cases, congenital abnormalities cannot be prevented, primarily hereditary ones. However, there are several efforts to reduce the risk of such conditions occurring, including:
- Eating a nutritionally balanced diet
- Immunize according to the doctor's recommendations
- Stopping the habit of smoking or inhaling cigarette smoke
- Limiting the consumption of alcoholic beverages
- Do exercise regularly
- Get enough sleep and avoid excessive stress during pregnancy
The important thing that you should also do is to do regular pregnancy check-ups with the gynecologist, especially if there is a history of congenital abnormalities in the family. If the child shows congenital abnormalities, immediately check the condition with the pediatrician to get the proper treatment.
Last updated: February 3, 2022
Reviewed by: dr. Sienna Agustin
source:https://www.alodokter.com/memahami-kelainan-kongenital-dan-faktor-penyebabnya
