Essay Example About Causes of Birth Defects

Published: 2022-12-07
Essay Example About Causes of Birth Defects
Type of paper:  Research paper
Categories:  Research Medicine Genetics
Pages: 7
Wordcount: 1829 words
16 min read

The causes of congenital disabilities have been a significant issue discussed in-depth by medical practitioners and non-specialists across the globe. Regardless of this fact, there remains a small number of contributory factors majorly attributed to congenital disabilities. These significant factors are inclusive of the following; Genetic problems such as heart defects affecting the structure and function of the heart, neural tube defects that affect the neural pathways on the baby, blood disorders such as sickle cell anemia and hyperproteinemia. Other crucial factors are inclusive of chromosomal problems, infections, exposure to medications, chemicals or other agents during pregnancy, inborn errors of metabolism and lymphatic malformation. All these shall be discussed in the paper as outlined:

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Genetic Problems

Heart Defects

About 1% of reported cases of birth defects have their origins on heart defects as is depicted by (HeartKids Victoria Inc., 2019). These heart defects are characterized by situations where the heart or parts of the heart, do not function properly or did not grow sufficiently. It may also be a result of blockages in the heart or blood vessels in the heart that cause a defect. In this case, the condition is termed as a congenital heart defect. These heart defects can manifest while in the uterus where the heart and blood vessels fail to grow normally during the fetus' growth. An example of a heart defect that could result in a severe congenital disability is a ventricular septal defect. This is where there is a hole between the ventricular walls. This allows for oxygenated and deoxygenated blood to, mix while in the heart. Treatment can be done through open heart surgery to block the hole and prevent blood mixture.

Neural Tube Defects

These are congenital disabilities that occur specifically in the brain or the spinal cord. Usually, this kind of defects makes the baby be born while stillborn or die a short time after birth. In this type of congenital disability, there is usually extensive nerve damage to the point that it leads to paralysis of the legs. In some cases of the congenital disability, both the spine and the brain do not develop fully or at all. These neural effects may also cause the brain tissue to extend into the spinal canal thereby exposing the brain. Treatment for neural tube defects have no known method of curing them. These kinds of abnormalities are detected through imaging tests and can be prevented by taking enough folic acid and vitamin B supplements that will enable one to avoid such situations throughout their pregnancy (Medline Plus, 2018)

Blood Disorders

These types of birth defects occur mainly in the blood. They manifest in cases like down syndrome or sickle cell anemia. Both where there is an issue with the blood cells of the unborn infant. Down syndrome causes a delay in mental development while sickle cell anemia causes the red blood cells of the infant to become misshapen therefore becoming ineffective in their capacity to hold oxygen. The baby can also be born with Rh disease which is a blood disorder characteristic of a congenital disability. This is where the blood types of the baby and the mother, turn out to be incompatible owing to the rhesus factors of the parents. Therefore, the baby cannot get nourishment from the mother since any contact of their blood in their bodies could prove fatal to either one, mostly the baby is a ta a higher risk of developing complications that may result in congenital disabilities such as jaundice and a severe case of anemia. In extreme cases, babies are born as stillborn since their defects could not withstand the assault on their weak immune systems.

Chromosomal Problems

Chromosomal problems occur when there is an extra chromosome in the baby's genetics or a missing chromosome in the baby's genetics. This can result in serious issues leading up to congenital disabilities as the child can be born with missing limbs or say one too many fingers or be born a hermaphrodite. Examples of chromosomal problems are inclusive of Klinefelter's syndrome and Down syndrome. Chromosomal issues can affect the brain as well as other body parts. Babies usually have 23 chromosomes from each parent for a combined total of 46 chromosomes. There are two sex chromosomes XY for boys and XX for girls. In case there is an extra chromosome, abnormalities can occur.

Chromosomal problems such as Down syndrome is characterized by an extra chromosome 21, which is also known as trisomy 21. Should this happen, the baby's growth rate is defective and impaired occurring at a much-delayed pace than that of normal children. It also results in abnormalities in the face or skull. Down syndrome is also associated with chronic health problems as is described in (SickKids Staff, 2016). Physical therapy has been documented to be instrumental in helping to strengthen the weak muscles so that the afflicted babies can learn basic skills a lot easier.

Klinefelters syndrome on the other hand mainly affects boys; it manifests as an extra 1 or 2 sex chromosomes to be as XXY or XXXY. Examples of these chromosomal problems for this condition are infertility, enlarged breasts for boys, and shriveled testicles. This can, however, be easily treated by regular doses of testosterone to counter the effects of the extra chromosomes thereby treating the congenital disability.


Infections are a significant cause of congenital disabilities throughout the world. The main point where infections are likely to cause congenital abnormalities is at childbirth. This is when both mother and child are most vulnerable to external germs, and thus infections get to the baby. A typical example of disease at birth is Cytomegalovirus Infection. If the baby is infected, it may result in them having jaundice, seizures, an abnormally small brain, enlarged liver or spleen. Infection may also occur in hearing and vision loss accompanied by intelligence disorders and delayed development. It is typically hard to determine if a child has been infected with Cytomegalovirus Infection since it only manifests with time. However, child handlers are advised to exercise extreme cleanliness when handling babies.

Another type of infection that causes congenital disabilities is the Rubella Virus infection. This type of disease causes autism and microcephaly, a condition where the baby has an abnormally small head with incomplete brain development. If the bay develops congenital rubella infection, they are highly likely to have heart defects, motor, and mental delay. These conditions are permanent and incurable. Herpesvirus Infection is another type of infection that is incredibly serious and results in congenital disabilities if infected during pregnancy. Once a baby in the womb is infected with herpesvirus infection, they are highly likely to be born with diseases of the eye-mouth, skin, and brain as indicated by (Saleh, 2018). Control and treatment of this infection can be done by the administration of an antiviral drug during the final stages of pregnancy.

Exposure to medications, chemicals or other agents during pregnancy.

Pregnancy is a delicate period, and care should be taken to avoid any circumstance that may subject the mother and baby to exposed conditions that would be harmful to the baby and cause their defects. For example, chemicals such as alcohol and drugs such as tobacco and cocaine are known to be harmful to an unborn child. These chemicals have a high chance of causing congenital disabilities such as microcephaly, jaundice, low birth weight of infants among a barrage of other effects likely to be caused by being exposed to them. As is documented by (HeartKids Victoria Inc., 2019), it is essential that women who were on medication during pregnancy, do not stop said medication. A stoppage may result in an underdeveloped brain in the unborn child. This is particularly the case if the mother has asthma, diabetes, high blood pressure. The mothers should not expose themselves to situations that would compromise their immunity. For example, mothers who have asthma should not expose themselves to dust, or pollen as that would trigger an attack that may result in the baby having seizures and gaining that trait and eventually getting asthma as well. Pregnant women should avoid substances such as lead since it is profoundly harmful to the child and it is passed freely to them through the placenta. Lead can result in birth defects such as undescended testes in boys, low birth weight, premature delivery and neurological damage to the newborn.

Inborn errors of metabolism

These involve a multitude of genetic disorders that are mainly caused by an inherited gene defect. The inherited deficiency changes the body's capacity to absorb energy from nutrients. This, in turn, creates a variety of genetic issues since the body cannot derive energy from nutrients. The disorders range from albinism to different eye colors. Science has attributed the inherited gene defects from reduced gene activity or a complete lack of required enzymes involved in certain neurological and biochemical pathways. In most instances, the underlying cause of inherited metabolic diseases that result from inherent defects is the inheritance of a mutated enzyme. The mutated enzyme does a different job from what it was initially supposed to do thereby causing deficiencies and reactions that cause these rare diseases. Usually, inheritance of inborn errors of metabolism combine two recessive gene patterns from each parent then manifest into signs and symptoms of a disease. The symptoms may be confused with that of other diseases hence late diagnosis. This congenital disability is then likely to result in developmental delays and unusual behavior like aversion to certain food groups.

Lymphatic malformation

This is a congenital disability that occurs during early the early stages of pregnancy where the embryo is still in development. The abnormality occurs when the lymphatic channels become abnormally formed. The abnormally formed channels become blocked and get enlarged in size as lymphatic fluid collects in the channels and around them, thereby forming a mass. This type of congenital disability results in slow mental development, microcephaly, difficulty in breathing and swallowing may also be experienced. Treatment of lymphatic malformations in children is possible if found within reasonable time so as to reverse the birth defect, it involves Antibiotic medications to treat would be infections on the area of the mass, making an incision and draining of the mass and in severe cases surgery to remove the lymphatic malformation and unblock the lymphatic vessels.

Consequently, various factors cause congenital disabilities. A variety of them only requires planning and carefulness to avoid a lifetime of treatment and caregiving. It would, therefore, be prudent to adhere to prevention rather than treatment since it would turn out to be a costly undertaking.


HeartKids Victoria Inc. (2019, March 6). Drugs, Medication, and Birth Defects. Retrieved from Better Health Channel:

Medline Plus. (2018, December 21). Medline Plus. Retrieved from U.S. National Library of Medicine:

Saleh, N. (2018, May 17). 5 Infections That Cause Birth Defects. Retrieved from VeryWell Family:

SickKids Staff. (2016, July 19). Chromosomal problems in newborn babies. Retrieved from AboutKidsHealth:

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