Essay on Birth Defect: Duodenal Atresia
Three days after conception, the development of an embryo begins. Here begins the astonishing miracle of life commence. This is the start of multitudinous developments. Whether it be the process of an embryo developing to a fetus, or a fetus seeing light for the first time. Every step within a babies development will significantly impact them, whether it be the way a babies mental health develops or their formation, health, or other physical characteristics. After conception the fertilized egg is developing expeditiously as the egg begins dividing rapidly into many cells. As it passes through the fallopian tubes into the uterus, it attaches to the uterine wall. The placenta will start to form which will nourish the baby.
After six weeks a baby’s heartbeat can be detected and by eight weeks the embryo is now considered a fetus. The fetuses arms, hands, fingers, feet and toes are fully formed by this point. Although this is an intriguing time for a fetus, most birth defects occur in the first three months of pregnancy, as this is the time when the organs of a baby are developing. This is a very significant stage for the development.The last six months could also be crucial because the fetuses tissues and organs continue to grow and develop. In the United States, every four and a half minutes, a baby is born with a birth defect. This factor indicates that approximately 120,000 babies are affected by birth defects each year in the United States. Birth defects are structural changes present at birth. Some are curable or treatable while others are not. Birth defects come in different levels of severity. These birth defects can affect almost any part or parts of the body, including the duodenum.
According to the “NORD” the duodenum is the first part of the small intestine. It is located between the stomach and the middle part of the small intestine, or jejunum. After foods mix with stomach acid, they move into the duodenum, where they mix with bile from the gallbladder and digestive juices from the pancreas. If there is a blockage of the duodenum, significant medical health hazards can occur, and can be fatal if newborns are not treated instantaneously.
Duodenal atresia is the name of the birth defect involving the duodenum. According to the “U.S National Library of Medicine” duodenal atresia is a condition in which the first part of the duodenum has not developed properly. The duodenum has not open, and therefore cannot allow the passage of stomach contents, meaning, these obstructions in the digestive tract of newborns prevent the proper absorption of food.
Duodenal atresia is a rather rare birth defect. Duodenal atresia is estimated to occur in between 1 and every 7,500 live births. Duodenal atresia comes with symptoms that may easily be misidentified or overviewed. However, these symptoms indicate the birth defect, and if not treated promptly, serious ramification could occur towards the newborn’s health, consequencing in even the death of the newborn due to the symptoms and complications of the birth defect.
Symptoms of a complete blockage of the duodenum may include the bilious vomiting of a yellow-green secretion risen from the liver, or sometimes the vomit can appear as a light brown granular matter. Within the first few hours of birth, distention or swelling of the upper abdomen can occur along with other symptoms such as constipation resistant to treatment, the baby may appear to have a yellow discoloration of the skin, which is also referred to as the term jaundice. Also, an excess of amniotic fluid is detected before birth, known as polyhydramnios, through an ultrasound.
Symptoms may also include the baby showing no urination after the first few voidings, which can indicate dehydration, and no bowel movements after the first few meconium stools. In cases with partial blockage may not appear for weeks, months, and sometimes even years. Prolonged vomiting along with dehydration may also occur. Other symptoms that may associate with duodenal atresia may include intestines that developed shorter than normal, low birth weight, premature birth and an imbalance of electrolytes which are the elements within the baby’s blood, tissues, and cell fluid which is needed in correct amounts for the use of energy.
Although this is not necessarily a symptom, its significant to understand that it has been proven that babies born with duodenal atresia show that 20-30% of those born with this defect have Down syndrome. Duodenal atresia can be an isolated condition, meaning, no other birth defects or condition occurs with it, but is more common in infants with Down syndrome. About one in three babies born with duodenal atresia have down syndrome.
Some birth defects come with a distinct population in which the birth defect specifically affects. Duodenal atresia however is a rare birth defect that occurs in approximately one out of every seven thousand, five hundred live births to one out of forty thousand live births. In Finland, the rate goes up to one case per every three thousand, four hundred live births, therefore duodenal atresia most commonly affects the population of Finland. Both males and females are affected by duodenal atresia in equal numbers. Not one distinct gender is more commonly affected.
Now that the symptoms of this birth defect had been discussed, along with the distinct population of those mostly affected by the defect, it comes to question, what causes duodenal atresia in the first place?
According to the “ NORD” since there is so little known about duodenal atresia, the majority of cases of duodenal atresia occur for no apparent reason or sporadically. Perhaps there is a reason that just has not been discovered yet, and perhaps in the future, doctors and scientist will rule out a cause. But since that discovery has yet not been made, it's only possible to indicate that the birth effect happens sporadically. Don't think scientist are going to end the conclusion like that. Doctors and scientist already came up with two theories as why this abnormality may occur.
Blood vessel defects in the embryo may cause the absence or closure of the duodenum by decreasing the blood supply in the affected area, or there may be an overgrowth of cells in the duodenum that obstruct the channel of the first part of the duodenum occurring during the sixth or seventh week of fetal development. Another theory is that scientist and doctors observed that there has been a few cases of duodenal atresia that have been inherited as an autosomal recessive genetic trait. Scientist discovered human traits are the product of the interaction of two genes. One gene is received from the father and another gene was received from the mother. Recessive disorders show the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person would be a carrier for the same trait, but they typically would not show any symptoms.
The risk of transmitting this disease to the children, both of who are carriers for a recessive disorder, is 25%. 25% of the parents babies may receive both normal genes, one from each parent, and should be genetically normal for that trait. This significant risk would occur the same for each pregnancy. Notice how close scientist are getting to discovering an exact cause? If scientist did find a cause, there is hope to prevent duodenal atresia in the future. Keep in mind, this can not be a set and stone conclusion as this research and estimation are still just considered a theory, meaning a theory just provides a framework for explaining observations, not settling down and proven facts. So in conclusion, some cases of duodenal atresia are shown to be caused by a genetic disorder from a recessive trait. However, the reason has not been confirmed. Most babies born with this birth defect were born with it without a genetic cause nor without any apparent reason. Duodenal atresia is believed to first occur around the first weeks of pregnancy.
As determining the cause may be one step closer to discovering a prevention, early diagnosis can be a key concept as well, so ‘When is duodenal atresia most commonly diagnosed?
According to the “Children's Memorial Hermann Hospital”, duodenal atresia is diagnosed by an ultrasound. The diagnoses can be made by the doctor seeing two filled areas of fluid within the baby's abdomen which is the dilated stomach and duodenum. This is actually referred to as the ‘ double bubble’ of duodenal atresia.This may have been detected on an antenatal scan or may not be detected until after the delivery when the baby starts to vomit. After an x-ray of the babies stomach, the doctors can confirm their diagnosis. Duodenal atresia is typically diagnosed at the seventh month of pregnancy. An ultrasound prior to birth is the most common way to diagnose duodenal atresia, even though in some cases it isn't until after birth. In conclusion, Duodenal atresia can be diagnosed prior to birth at seven months, but sometimes during pregnancy it can be diagnosed earlier as it is seen on an ultrasound and the diagnosis is further established if the ultrasound image shows the classic sign of duodenal atresia which is the “double bubble” in the baby’s abdomen.
So now that duodenal atresia has been diagnosed, how is the defect treated?
According to the “APSA” duodenal atresia is treated surgically by a gastrologist. The procedure is usually formed one the baby has stabilized from delivery. Multiple cuts are made in the belly to insert a telescope and small instruments. This process is called laparoscopy. Another technique that can be used is called open technique which is an approach where a larger cut is made on the belly to complete the surgery. It is either done vertically or horizontally. Surgeons will make sure that there are no other areas of atresia anywhere in small and large intestines.
Then,the surgeon will identify the area of blockage. The intestine before the blocked segment is sewn on to the intestine beyond the blockage, bypassing the obstruction. If the dilated segment is really big, then it may need to be narrowed so it can work better.When the duodenum is put back together, a significant benefits that the child will be able to finally eat again and carry on their life normally. The great news is that this surgery is not only a treatment, but a cure for duodenal atresia. After the surgery, there are usually no long term effects and the baby can go on to live a healthy and normal life.
Luckily there is a cure, but unfortunately there is no way to prevent duodenal atresia as it doesn't really have a cause nor does it have resources that could help prevent it.
Miranda Waters, a fourteen year girl from Colchester Connecticut was born with duodenal atresia. Although she lives a happy and healthy life now, it was no picnic for her at birth as she faced complications from the birth defect duodenal atresia. When Miranda was born, she was discharged from the hospital, healthy as a newborn baby. When her mother took her home from the hospital, she noticed that Miranda would vomit after every feeding.
The doctors repeatedly told her mother that it was just reflux, and to change her formula, but within three days, Miranda's skin color has changed to yellow, she showed lack of bowel movements, and she became lethargic. Her mother rushed her to CCMC Emergency Room, and the doctors rushed her away, declaring that she was in critical condition, that's when the doctors finally discovered she had the birth defect called duodenal atresia. Miranda was within hours from death. Her mother was told duodenal atresia was mostly found in down syndrome babies. But Miranda was lucky and did not have down syndrome, which made her a rare case. The doctors has to bring Miranda out of the intensive care unit until they could do surgery for this defect.
Miranda’s small and large intestine were formed together, creating a blockage, where no food ( formula) could pass through which created her to vomit and starve to death. Once Miranda was release from ICU, she was living on feeding tubes and when she was healthy enough to have surgery, the doctors went into her duodenal and created a passage, but there were no guarantees of survival as her stomach never learned how to work while in and out of the womb.
Ater months in the hospital, Miranda was able to try formula again. It took a few tries before she was able to keep it down with no complications. A few weeks later, Miranda was finally able to go home. Her mother was told that Miranda may have developmental delays and other defects, but Miranda was lucky as these delays and effects never happened for her. Miranda went on to grow as a normal healthy child who is now fourteen without ever having any signs or complications from duodenal atresia. The only thing that she carried from this effect was the scars from the Ivs, feeding tubes, and the surgery.
For duodenal atresia, there is no support available except by the doctors, gastrologist, surgery unit team, the nurses, and the comfort and support from family and friends.
Not every birth defect is caused by poor actions by the mother during pregnancy. Sometimes birth defects can not be prevented. Birth defects do not make a person different or abnormal, they just give a person uniqueness and a story to tell. Going through or living with a birth defect can be difficult., but with the love and support from and given to the family can make this difficult process admirably easier.
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