Genetic Disorders In Prenatal Care
There are a wide variety of genetic disorders that parents face during pregnancy. Parents are faced with the terrifying news of the disorders that doctors diagnosis their unborn children. In some cases, certain disorders are not discovered until after the birth of the new baby. Due to the fact that there are a wide variety of genetic disorders, there are also different ways these disorders can be detected, as well as the different ways they affect the unborn baby, the mother, and the treatment plans. It is extremely important that the pregnant parents begin prenatal care as soon as the pregnancy is discovered. Beginning prenatal care early and continuing prenatal care throughout the course of the pregnancy can help to benefit both the baby
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and mom. During prenatal care doctors can monitor the baby’s progress. If there are any abnormalities discovered then the doctor can take the next step which is testing to determine the exact cause of the abnormalities that were discovered. The method of testing is different for each case, and is determined by the doctor. Though it may be difficult for the parents, testing as early as possible is always best. Testing early will allow the parents to begin to make important decisions regarding the interest of their own values and the baby. It also allows the doctor and his team to begin formulating plans and treatment plans for the care of the baby once he or she is born.
Throughout the process the doctor as well as the nurse and other team members will continue to provide family centered care. When providing family centered care the staff members are not only taking the thoughts and feeling of the mother, but also the thoughts and feelings of the father and other support of the mother. They are included in the teaching about the condition of the unborn child as well as options for the parents and treatment plans before the baby is born as well as after the baby is born. Medical team members practice family centered care because it is the family members who are the patient’s support team. They act as the glue for patients because support teams aid to keeping the patient together, and help to put back the pieces when the patient feel they may have lost their faith or hope. Support systems are also there to make sure the patient understands what is going on with their care and the care of the baby. Therefore it important to maintain therapeutic relationships with the patient’s support systems when helping pregnant patient’s deal with genetic disorders of their unborn …show more content…
children.
The term trisomy is defined as having 47 chromosomes resulting from each body cell containing an extra copy of one chromosome. The most common trisomy is 21, better known as Down syndrome. A less common trisomy is known as Edward’s syndrome. (McKinney, James, Murray, Nelson, & Ashwill, 2013). This extra chromosome negatively affects the developmental pattern and has the potential to be life-threatening, even before the baby is born. This life threatening genetic condition is very rare. It occurs in about 1 in every 2500 pregnancies in the Unites States. The chances of survival are minimal as well. Only 50% of term babies are born alive. Other statistics show that baby girls have are more likely to be born alive than baby boys. This is because of low birth rates related to Trisomy 18. Baby girls with Trisomy 18 have been proven to have higher birth rates than baby boys, which raises their chances of live births. Therefore babies born with Trisomy 18 who live into adulthood are more likely to be girls than boys because of the higher birth rate of girls with Trisomy 18. (What is Trisomy 18?, 2015). With early detection from the doctors parents of babies with Trisomy can begin their decision making, and planning in advance Trisomy 18 is a condition that causes abnormalities to many parts of the body.
It is impossible to tell what abnormalities the baby will have because it affects each individual baby differently. The range of abnormalities are heart defects such as ventricular septal defect and atrial septal defect to problems with the kidneys. Other abnormalities resulting from Trisomy 18 include a small, abnormally shaped head, small jaw and mouth, as well as clenched fists with overlapping fingers, low set ears, and strawberry shaped head. (What is Trisomy 18?, 2015). Babies affected by this syndrome experience a slow growth before birth as well as a low birth weight. Due to the life threatening problems, many babies die before birth or within a few months after birth. (Trisomy 18 , 2012). Babies who make it to be discharged from the hospital will go home, but will have continued care in the home from nurses as well as care by their parents. A small percent of these babies go on to live past their first birthdays and some live on into adulthood, but require a full time care giver because of their developmental delays. (What is Trisomy 18?, 2015). There are three types of Trisomy 18. They are known as full, partial, and mosaic. The most common of the three types is full. With full trisomy the extra chromosome is present in every cell in the body. Partial Trisomy occurs when only part of the extra chromosome is present. This type may be caused by heredity. The last type, mosaic, occurs when
the extra chromosome is present in some of the body cells. No type of Trisomy 18 is better than the other. Each type can affect the baby in many different ways. (What is Trisomy 18?, 2015). Screenings for Trisomy 18 can lead to the diagnosis of the syndrome, and can lead to the decision of pregnancy termination due to the syndromes high mortality rate. During the first trimester noninvasive screenings are based on maternal age, serum markers, and soft sonographic marker and are being routinely applied. In pregnancies with Trisomy 18, levels of human chorionic gonadotropin, unconjugated estriol, and alpha-fetoprotein are significantly low compared to a normal pregnancy. Abnormalities common with Trisomy 18 can also be detected by an ultrasound screening. (Kagan, Wright, Maiz, Pandeva, & Nicolaides, 2008). The diagnosis of Trisomy 18 is done while the mother is still pregnant with the baby. Some cases can also be diagnosed after birth and is diagnosed the same way as prenatally. The unborn, or living baby is tested by having a sample of his or her DNA from a blood sample or other bodily cells. The DNA is cultured to examine the karyotype, which is a picture of chromosomes. Most commonly used for this testing is white blood cells. A positive diagnosis of Trisomy is when there is an extra 18th chromosome, hence the name, Trisomy 18. Early diagnosis is performed in order to allow the parents to plan. Statistics have proven that many cases of Trisomy 18 end in miscarriage, while living cases never make it to their first year. Of the cases that make it past their first year of life they will continue to require around the clock care. (What is Trisomy 18?, 2015).
Guidance for the parents should be given. It can be extremely difficult for the parents to get a positive diagnosis of Trisomy 18. They may experience difficulty accepting because of a lack of knowledge or fear of the unknown for their baby. Counseling should be realistic, and the parents should be prepared for both possibilities of the baby dying as well as the baby living. Through information should be given to the parents because they must make decisions regarding death, surgery, and support and care should the baby live. During this time moral dilemmas are most often what parents struggle with. Teaching for these parents should include knowledge about the condition as well as statistics regarding longevity of their baby’s life should the baby live after birth. This teaching can help to guide parents to come to a decision to terminate or continue on with the pregnancy. Parents who decide to terminate should be taught about the procedure of terminating as well as possibilities of conceiving another baby with Trisomy 18. In the event the parents decide to continue on with the pregnancy the parents should be given advanced care planning. Advanced care planning is planning created prior to the birth of the baby diagnosed with Trisomy 18. Advanced care planning and collaborative planning can help to ease the parents anxiety of what is to come after their baby is born. During the advanced care planning their doctor should provide discussions about all aspects about what is to be expected and what decisions must be made. The doctor will discuss delivery options, treatment plans as well as the parent’s thoughts for what is most important for their baby. Throughout the entire process the parents assume a voice in the decisions that are made in regards to the pregnancy and the treatment after birth. (English & Hessley, 2013).
There is no cure for this syndrome. Treatment is geared towards providing the patient with the best care possible in order to help the patient maintain a close to normal life as possible. As previously stated, the survival rate is very low, and for those who survive this syndrome past one year go on to live close to normal lives, but they will continue to be dependent on others and require around the clock care. (What is Trisomy 18?, 2015). The main focus on patients with Trisomy 18 is cardiac management. Most patients require medications for congestive heart failure, such as diuretics and digoxin. Heart surgeries are also common in these patients. Feeding is another major issue with these patients. Most of the patients seen with Trisomy 18 experience difficulty with feeding. It is very common to see tube feedings in the neonatal period or placement of gastrostomy in older children. Because problems in other areas such as respiratory, hearing, and musculoskeletal can occur, it is important to follow up with specialists for further treatment plans. After discharge the parents of the baby should continue to follow up with the pediatrician. (Cereda & Carey, 2012). It is extremely important for the parents to keep up with these appointments during the first few months of the baby’s life. Afterwards the frequency of follow up appointments is dependents on the conditions of the baby because Trisomy 18 can effect each baby differently.
No one wants to hear that their baby has any type of health issues, especially the life threatening syndrome Trisomy 18. Every pregnant couple prays to have a healthy baby, but unfortunately for many parents in the United States and other countries the diagnosis of babies with genetic disorders are a sad terrifying reality. They may have experienced a pregnancy where their baby was diagnosed with Trisomy 18, and the baby did not make it, or where they are currently caring for a child with the syndrome. Although the cases of an infant living to see past birth, or even past their first birthday it is possible for them to live even longer. Parents must undergo the proper testing to first determine if their baby has this condition. Once a positive diagnosis have been determined the parents must go through teaching and planning. With the proper collaborative care, planning, treatment, and family support it is possible for infants with Trisomy 18 to live past the age of one.
and mom. During prenatal care doctors can monitor the baby’s progress. If there are any abnormalities discovered then the doctor can take the next step which is testing to determine the exact cause of the abnormalities that were discovered. The method of testing is different for each case, and is determined by the doctor. Though it may be difficult for the parents, testing as early as possible is always best. Testing early will allow the parents to begin to make important decisions regarding the interest of their own values and the baby. It also allows the doctor and his team to begin formulating plans and treatment plans for the care of the baby once he or she is born.
Throughout the process the doctor as well as the nurse and other team members will continue to provide family centered care. When providing family centered care the staff members are not only taking the thoughts and feeling of the mother, but also the thoughts and feelings of the father and other support of the mother. They are included in the teaching about the condition of the unborn child as well as options for the parents and treatment plans before the baby is born as well as after the baby is born. Medical team members practice family centered care because it is the family members who are the patient’s support team. They act as the glue for patients because support teams aid to keeping the patient together, and help to put back the pieces when the patient feel they may have lost their faith or hope. Support systems are also there to make sure the patient understands what is going on with their care and the care of the baby. Therefore it important to maintain therapeutic relationships with the patient’s support systems when helping pregnant patient’s deal with genetic disorders of their unborn …show more content…
children.
The term trisomy is defined as having 47 chromosomes resulting from each body cell containing an extra copy of one chromosome. The most common trisomy is 21, better known as Down syndrome. A less common trisomy is known as Edward’s syndrome. (McKinney, James, Murray, Nelson, & Ashwill, 2013). This extra chromosome negatively affects the developmental pattern and has the potential to be life-threatening, even before the baby is born. This life threatening genetic condition is very rare. It occurs in about 1 in every 2500 pregnancies in the Unites States. The chances of survival are minimal as well. Only 50% of term babies are born alive. Other statistics show that baby girls have are more likely to be born alive than baby boys. This is because of low birth rates related to Trisomy 18. Baby girls with Trisomy 18 have been proven to have higher birth rates than baby boys, which raises their chances of live births. Therefore babies born with Trisomy 18 who live into adulthood are more likely to be girls than boys because of the higher birth rate of girls with Trisomy 18. (What is Trisomy 18?, 2015). With early detection from the doctors parents of babies with Trisomy can begin their decision making, and planning in advance Trisomy 18 is a condition that causes abnormalities to many parts of the body.
It is impossible to tell what abnormalities the baby will have because it affects each individual baby differently. The range of abnormalities are heart defects such as ventricular septal defect and atrial septal defect to problems with the kidneys. Other abnormalities resulting from Trisomy 18 include a small, abnormally shaped head, small jaw and mouth, as well as clenched fists with overlapping fingers, low set ears, and strawberry shaped head. (What is Trisomy 18?, 2015). Babies affected by this syndrome experience a slow growth before birth as well as a low birth weight. Due to the life threatening problems, many babies die before birth or within a few months after birth. (Trisomy 18 , 2012). Babies who make it to be discharged from the hospital will go home, but will have continued care in the home from nurses as well as care by their parents. A small percent of these babies go on to live past their first birthdays and some live on into adulthood, but require a full time care giver because of their developmental delays. (What is Trisomy 18?, 2015). There are three types of Trisomy 18. They are known as full, partial, and mosaic. The most common of the three types is full. With full trisomy the extra chromosome is present in every cell in the body. Partial Trisomy occurs when only part of the extra chromosome is present. This type may be caused by heredity. The last type, mosaic, occurs when
the extra chromosome is present in some of the body cells. No type of Trisomy 18 is better than the other. Each type can affect the baby in many different ways. (What is Trisomy 18?, 2015). Screenings for Trisomy 18 can lead to the diagnosis of the syndrome, and can lead to the decision of pregnancy termination due to the syndromes high mortality rate. During the first trimester noninvasive screenings are based on maternal age, serum markers, and soft sonographic marker and are being routinely applied. In pregnancies with Trisomy 18, levels of human chorionic gonadotropin, unconjugated estriol, and alpha-fetoprotein are significantly low compared to a normal pregnancy. Abnormalities common with Trisomy 18 can also be detected by an ultrasound screening. (Kagan, Wright, Maiz, Pandeva, & Nicolaides, 2008). The diagnosis of Trisomy 18 is done while the mother is still pregnant with the baby. Some cases can also be diagnosed after birth and is diagnosed the same way as prenatally. The unborn, or living baby is tested by having a sample of his or her DNA from a blood sample or other bodily cells. The DNA is cultured to examine the karyotype, which is a picture of chromosomes. Most commonly used for this testing is white blood cells. A positive diagnosis of Trisomy is when there is an extra 18th chromosome, hence the name, Trisomy 18. Early diagnosis is performed in order to allow the parents to plan. Statistics have proven that many cases of Trisomy 18 end in miscarriage, while living cases never make it to their first year. Of the cases that make it past their first year of life they will continue to require around the clock care. (What is Trisomy 18?, 2015).
Guidance for the parents should be given. It can be extremely difficult for the parents to get a positive diagnosis of Trisomy 18. They may experience difficulty accepting because of a lack of knowledge or fear of the unknown for their baby. Counseling should be realistic, and the parents should be prepared for both possibilities of the baby dying as well as the baby living. Through information should be given to the parents because they must make decisions regarding death, surgery, and support and care should the baby live. During this time moral dilemmas are most often what parents struggle with. Teaching for these parents should include knowledge about the condition as well as statistics regarding longevity of their baby’s life should the baby live after birth. This teaching can help to guide parents to come to a decision to terminate or continue on with the pregnancy. Parents who decide to terminate should be taught about the procedure of terminating as well as possibilities of conceiving another baby with Trisomy 18. In the event the parents decide to continue on with the pregnancy the parents should be given advanced care planning. Advanced care planning is planning created prior to the birth of the baby diagnosed with Trisomy 18. Advanced care planning and collaborative planning can help to ease the parents anxiety of what is to come after their baby is born. During the advanced care planning their doctor should provide discussions about all aspects about what is to be expected and what decisions must be made. The doctor will discuss delivery options, treatment plans as well as the parent’s thoughts for what is most important for their baby. Throughout the entire process the parents assume a voice in the decisions that are made in regards to the pregnancy and the treatment after birth. (English & Hessley, 2013).
There is no cure for this syndrome. Treatment is geared towards providing the patient with the best care possible in order to help the patient maintain a close to normal life as possible. As previously stated, the survival rate is very low, and for those who survive this syndrome past one year go on to live close to normal lives, but they will continue to be dependent on others and require around the clock care. (What is Trisomy 18?, 2015). The main focus on patients with Trisomy 18 is cardiac management. Most patients require medications for congestive heart failure, such as diuretics and digoxin. Heart surgeries are also common in these patients. Feeding is another major issue with these patients. Most of the patients seen with Trisomy 18 experience difficulty with feeding. It is very common to see tube feedings in the neonatal period or placement of gastrostomy in older children. Because problems in other areas such as respiratory, hearing, and musculoskeletal can occur, it is important to follow up with specialists for further treatment plans. After discharge the parents of the baby should continue to follow up with the pediatrician. (Cereda & Carey, 2012). It is extremely important for the parents to keep up with these appointments during the first few months of the baby’s life. Afterwards the frequency of follow up appointments is dependents on the conditions of the baby because Trisomy 18 can effect each baby differently.
No one wants to hear that their baby has any type of health issues, especially the life threatening syndrome Trisomy 18. Every pregnant couple prays to have a healthy baby, but unfortunately for many parents in the United States and other countries the diagnosis of babies with genetic disorders are a sad terrifying reality. They may have experienced a pregnancy where their baby was diagnosed with Trisomy 18, and the baby did not make it, or where they are currently caring for a child with the syndrome. Although the cases of an infant living to see past birth, or even past their first birthday it is possible for them to live even longer. Parents must undergo the proper testing to first determine if their baby has this condition. Once a positive diagnosis have been determined the parents must go through teaching and planning. With the proper collaborative care, planning, treatment, and family support it is possible for infants with Trisomy 18 to live past the age of one.