What is Congenital Abnormalities?

What is Congenital Abnormalities
What is Congenital Abnormalities

What is Congenital Abnormalities?

What is Congenital Abnormalities? Congenital abnormalities are abnormalities that occur in the fetus during fetal development before birth. Such abnormalities may be structural abnormalities or functions of the limbs of the fetus.

Generally, congenital abnormalities can be detected before or after childbirth. Several types of new congenital abnormalities can be detected post-birth along with child growth. Examples of new congenital abnormalities that can be detected during child growth are hearing loss. Some examples of common congenital aberrations are congenital heart abnormalities, Down syndrome, and congenital nerve organ abnormalities.

Congenital abnormalities may contribute to long-term disability that affects the lives of individual patients. Therefore, people with congenital abnormalities should get support from families, communities, and health care institutions. The cause of the emergence of congenital anomalies can not be identified with certainty. Some of the things that are suspected as the cause of congenital abnormalities in a person are genetic factors, infectious diseases, malnutrition, and environmental influences.

There are several types of congenital abnormalities that can be prevented. Preventative measures for the emergence of congenital abnormalities may include vaccination, adequate folic acid intake, and provide adequate and adequate prenatal care for the fetus.

Disease due to Congenital Abnormalities

Here are some diseases that generally occur due to congenital abnormalities in the fetus during the womb:

Anencephaly is a congenital anomaly caused by an embryo failure in forming a neural tube causing the infant to have no frontal lobe from the cerebrum (brain) and skull bone. Anencephaly can be diagnosed during pregnancy or postnatal period.

Anophthalmia and Microphthalmia, are congenital abnormalities in the infant’s eyes where the infant does not have one or both eyes. Microphthalmia is caused by delayed development of the baby’s eyes, so the size is smaller than normal baby’s eyes.

Anosia and Microsia, is a congenital aberration in the baby’s ears. Anosia occurs if the baby does not have one or both ears. While microsia occurs if the baby’s ear leaf is smaller than normal ear leaf size.

Cleft Lip and Cleft Palate, is a congenital abnormality of the baby’s lips that occurs when the baby’s lips are not perfectly formed, so that the lips and the palate do not close completely. During the formation of lips and palate, the two organs develop from both edges, then blend in the middle and form various features on the face. Cleft lip generally occurs between the fourth week until the seventh week during pregnancy. While cleft palate generally occurs between the sixth week to the ninth week during pregnancy.

Congenital Heart Abnormalities, is the most common congenital aberration in infants. Congenital heart defects occur when the baby is born with abnormal heart structures. Heart structural abnormalities in infants can range from mild, hole in the heart wall, to severe abnormalities, the loss of one or more parts of the heart).

Microcephaly, an abnormality in the baby’s head that is smaller than normal head size. Infants with microcephaly generally have a smaller brain volume than normal and tend to experience delays in neurodevelopment. Some microcephaly conditions are more severe than other microcephaly. Severe microcephaly is common due to central nervous system not well developed during infancy.

Down syndrome is a congenital abnormality caused by chromosomal abnormalities in infants, on chromosome number 21. In people with Down syndrome, the number of chromosomes number 21 that should be just a pair, becomes excessive to three pieces or trisomy. Several other cases of Down syndrome occur due to the translocation of chromosome number 21 attached in part or entirely to other number chromosomes. Characteristics of people with Down syndrome include:

  • A slightly flat face, especially on the nose.
  • Short neck.
  • Small ears.
  • The tongue tends to stick with the mouth.
  • Hands and feet are smaller than normal.

Spina Bifida, is a congenital defect that occurs in the spine due to impaired progression of neural tube during pregnancy. In patients with spina bifida, the spinal cord and membrane durameter are not protected by the spine and form a bulge in the skin. This condition can cause mental disorders in patients from mild to severe depending on the location of the spina bifida.

Causes and Risk Factors of Congenital Abnormalities

Approximately 50 percent of cases of congenital abnormalities can not be attributed to a specific cause. However, some factors may contribute to the emergence of congenital abnormalities in the fetus. Some of these factors are:

  • Genetic Factors. Genetics is a very influential factor in the emergence of congenital anomalies. Congenital abnormalities caused by genetic factors may arise due to genetic abnormalities derived from the elderly or the occurrence of mutations in certain genes. Increased parental mating (consciousness) increases the risk of rare genetic disorders and increases the risk of infant death, mental disability, and other disorders doubled.
  • Socioeconomic and Demographic Factors. Low income can contribute indirectly to the emergence of congenital abnormalities, especially in families or countries with low nutritional adequacy rates. Most congenital abnormalities occur in pregnant women coming from low income families, due to lack of nutrient intake. In addition, the risk of exposure to infection as well as the lack of health services in pregnant women from low-income families may have an effect on the presence of congenital anomalies in the fetus. Maternal age also affects the risk of fetal abnormalities. Pregnancy in the elderly may increase the risk of chromosomal abnormalities in the fetus, one of which is D syndrome
  • Environmental factor. Exposure of the environment to pregnant women, especially in the form of harmful chemical compounds can contribute to the appearance of abnormalities in the fetus. Examples of chemical compounds that are harmful to pregnant women and the fetus are pesticides, alcohol, tobacco, radiation, and certain drugs. Working or living near sewage treatment, iron smelting, or mining may also interfere with maternal health and fetal development.
  • Infection. Maternal infection in pregnant women (eg syphilis and rubella) is a major cause of congenital abnormalities, especially in low and middle economic families. Recently, zika virus infections in pregnant women were strongly suspected to cause microcephaly disorders in infants.
  • Malnutrition to Pregnant Women. Folic acid deficiency in pregnant women may increase the risk of a fetus with central nervous system disorders. While the excess intake of vitamin A can affect the development of embryo and fetus in pregnant women.

Types of Genetic Congenital Abnormalities

Congenital abnormalities can arise from a variety of factors. But in general, congenital abnormalities caused by genetic factors can be divided as follows:

Chromosomal Abnormalities. Chromosomes are structures within cells that carry genetic traits from generation to generation. Normal chromosomes in humans amounted to 46 who came from father and mother, each of 23 pieces. If the number of chromosomes baby is less or more than 46 due to missing or duplicated, the baby will suffer from congenital abnormalities. Examples of this type of congenital anomaly are Down syndrome, Klinefelter syndrome, and Turner syndrome.

Genetic Disorder Genes are the structures of the chromosomes. In a chromosome, there are hundreds to thousands of genes, which is a collection of genetic information in the form of DNA. Congenital abnormalities can be caused by gene abnormalities. Generally this disorder is derived from both parents, and can be:

  • Abnormalities in the dominant autosomal gene, an abnormality that arises if the baby has an abnormal gene from one of its parents.
  • Abnormalities in the recessive autosomal gene, an abnormality that arises if the infant has an abnormal gene from both parents. Examples are cystic fibrosis and Tay-Sachs disease.
  • Gene abnormalities in chromosome X are recessive. Generally this condition is more common in men than women, because women have 2 X chromosomes. Examples of abnormalities due to this condition are color blindness, hemophilia, and muscular dystrophy.
  • Gene abnormalities in the X chromosome are dominant. This condition can occur in both men and women. However, usually the symptoms of abnormalities in men more severe than in women. Examples are craniofacial disorders, bone disorders, and others.

Some congenital aberrations occur because there is a combination of several risk factors. Any influence of the environment, on the fetus with certain genetic disorders, at a decisive stage in fetal development, can cause congenital abnormalities. Examples of such congenital aberrations are cleft lip and spina bifida.

Detection and Diagnosis of Congenital Abnormalities

To detect possible fetal abnormalities, screening can be used in three stages:

Preconception screening (before pregnancy). Preconception screening aims to map the risk of certain parental abnormalities and possibly inherited to the child. Screening methods performed include mapping family health history and knowing if any of the parents are carriers of certain genetic abnormalities, especially if there is inbreeding.

Screening periconsepsi (during pregnancy). The goal of pericaptive screening is to monitor the condition of pregnant women and to anticipate what might increase the risk of developing abnormalities, as well as to provide medical measures to reduce those risks. In addition, screening periconsepsi also aims to detect abnormalities in the womb and fetus, especially in the first and second trimester. Some of the screening methods performed during pregnancy are as follows:

  • Monitoring conditions and health history of pregnant women. Things to watch out for include the age of pregnant women (especially pregnant women at a young age or advanced), alcohol consumption, smoking habits, and others.
  • Ultrasound (ultrasound). Ultrasound can detect Down syndrome as well as other significant abnormalities in fetal body structure, in the first trimester of pregnancy. Severe genetic disorders can be detected in the second trimester, through ultrasound examination.
  • Examination Blood examination of some special markers as parameters, can be used to detect chromosomal abnormalities or detect abnormalities of the nervous system in the fetus.
  • Diagnosis of chorion and amnion. The chorion and amnion test methods can detect if there is an infection of the uterus. In addition, this test can also detect chromosomal abnormalities.

Neonatal screening (postnatal). The purpose of neonatal screening is to check for congenital abnormalities for immediate medical action if necessary, and to prevent further progression of the disorder. Screening of the newborn includes general physical examination, as well as screening to detect any blood disorders, metabolism or hormone production.

Prevention of Congenital Abnormalities

To prevent the occurrence of abnormalities in the fetus and infant, as well as reduce the risk of congenital anomalies, the steps that can be done are as follows:

  • Ensure nutritional adequacy for young women and pregnant women, especially the adequacy of fruits and vegetables and maintain ideal body weight.
  • Ensuring the adequacy of vitamins and minerals in pregnant women, especially folic acid.
    Avoid exposure to harmful chemicals in pregnant women such as pesticides, alcohol, or cigarettes.
  • Avoid traveling to areas affected by infectious diseases especially for pregnant women, nursing mothers, and mothers with young children.
  • Controlling the condition of blood sugar for pregnant women on a regular basis, especially pregnant women who have diabetes risk.
  • Ensuring medical action against pregnant women does not endanger the health of pregnant women and their contents, especially the administration of drugs or radiotherapy.
  • Conduct vaccination in women of childbearing age before planning a pregnancy, especially rubella vaccination.
  • Detecting infectious diseases in the environment of pregnant women, especially rubella, chicken pox, and syphilis.
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