Turner’s Syndrome is considered a high-risk pregnancy because only 1-3% of babies affected with it will survive birth. It is rare and only 200,000 people in the US are affected by the condition (Granger et al., 2016). The condition is found only in females where one of the two X chromosomes is missing or incomplete. Turner’s syndrome occurs randomly and has no known reason for the missing or partial X chromosome (Granger et al., 2016). The missing X chromosome causes errors during fetal development. Once the baby has been born other developmental problems will arise. The most common complications that affect those with Turner Syndrome and who survive will have short stature, ovarian failure, and learning disabilities (Granger et al., 2016). The health complications, as well as the physical characteristics that may arise from the chromosomal condition, can vary greatly. Women with Turner syndrome have short stature with an average height of 4 feet 8 inches. There are also other disservice physical characteristics such as webbed neck, scoliosis, and low-set ears. Those affected with Turner Syndrome have a shorter life expectancy due to heart problems and diabetes (Granger et al., 2016). The systems that are involved that affect those with Turner syndrome the most are reproductive, circulatory, endocrine, nervous, and skeletal. Women who have Turner’s syndrome will have problems with their reproductive system. Most of them will either have absent or poorly formed ovaries. This can cause incomplete sexual development when there are no ovaries to produce estrogen. This will affect puberty for these women. They will not go through the normal phases of puberty such as breast development, menstruation, and growth of public and axillary hair without hormone replacement. It can ultimately result in infertility.Some women with Turner’s syndrome will have heart problems which will affect the circulatory system. About 30% of women with Turner syndrome will have a heart problem (Granger et al., 2016). The aortic valve and the aorta are most commonly involved. 1 in 10 girls with the chromosomal condition is born with coarctation of the aorta. Coarctation of the aorta is when there is constriction of the main artery leaving the heart. This condition may need to be corrected surgically. Even if they have no family history of heart disease they may also end up having high blood pressure.The endocrine system is affected by those who have Turner syndrome. They will have hormone and kidney problems. Kidney complications are common and about 30% with Turner syndrome with experience it. In most cases, it is due to from the kidneys from forming into the correct shape or in an unusual position. Most kidney problems are not serious medical concerns and are just more susceptible to urinary tract infections. Those with Turner syndrome also have an increased risk of developing diabetes. They also have an increased risk of developing hypothyroidism. Hypothyroidism is an underactive thyroid gland. It is marked by low thyroid hormone levels. The low levels cause the metabolism and growth to slow down causing father stunt development. The nervous system is also affected by having chronic middle ear infections, hearing loss, and non-verbal learning disabilities. Women with Turner syndrome typically have normal intelligence and tend to score normally on verbal IQ but may have problems with the nonverbal IQ (Granger et al., 2016). Most of the time they have problems in areas of spatial perception and an increased incidence of specific learning disabilities. Ear infections are common because of their unique shape. With having frequent ear infections, they are at a higher risk of experiencing hearing loss. They may also experience vision problems. Women with the condition may have a lazy eye, congenital glaucoma or droopy eyelids. The most common eye condition is crossed or wandering eyes. The last system that may be involved with women who have Turner syndrome is the skeletal system. They may be affected with osteoporosis. This is due to the absent or diminished estrogen production. Estrogen supports bone growth and without it will cause brittle bones. They are also at an increased risk of developing scoliosis which is an abnormal curvature of the spine. Due to having a short stature there will e skeletal problems. They may experience cubitus valgus. This is when someone is unable to keep their arms perfectly straight at their sides and have their elbows slightly bent. They may also experience a narrow jaw as well as a narrow high-arched palate.Turner syndrome may be diagnosed after a pregnancy loss when the parents pursue chromosomal testing after a miscarriage or stillbirth. If the patient is currently pregnant an ultrasound may reveal markers for the condition. Abnormal ultrasound findings may show heart defect kidney abnormality, cystic hygroma, and ascites. Further testing will need to be done to confirm Turner syndrome. An amniocentesis or Chroionic Vili sampling (CVS) is genetic testing that can diagnose one with Turner syndrome (Turner Syndrome: Symptoms, Causes and Treatment, 2017). CVS may be done after 13 weeks gestation and involves taking a small piece of tissue from the placenta. Since the placenta contains the same genetic materials as the baby it can be sent out form chromosome studies. An amniocentesis is a test where a sample of the amniotic fluid is taken from the uterus. The baby has shed cells into the amniotic fluid which makes it able for the fluid to be sent out for testing. Many miscarriages related to Turner syndrome occur in the first trimester. By the time the baby is eligible for amniocentesis, the odds of pregnancy loss are not nearly as staggering. One study found that 91% diagnosis with Turner syndrome via amniocentesis survives to birth (Turner syndrome – Genetics Home Reference – NIH, n.d.)In newborn babies, the diagnosis can be confirmed with a blood test. The simple blood test is called a karyotype. This is the gold standard for testing for Turner syndrome. The blood test will check for the absence or partial absence of one of the X chromosomes. It usually takes about two weeks to get the results from the test.There is no cure for Turner syndrome because it is a genetic disorder. Although it is a lifelong condition it can be managed successfully with treatment. The two treatments are growth hormone therapy and hormone replacement therapy (Turner Syndrome: Symptoms, Causes and Treatment, 2017). The treatment for growth hormone therapy usually starts in pre-school or early school years. They are injected with a synthetic form of human growth hormone which will help increase their height. Hormone replacement therapy is needed due to the absence or malfunctioned ovaries. They do not produce estrogen which is needed for development. Those affected with Turner syndrome will be prescribed estrogen to help with puberty such as menstruation and breast growth. One menstruation occurs a second hormone will be added. Progesterone is added to ensure regular menstrual cycles. Most hormone replacement therapy occurs until the normal age of menopause which is around 50 years old.With a loss of a baby through miscarriage or stillbirth is considered a traumatic life experience. It is a hard thing for one to experience and can cause some grief. It at affecting those in a negative way. It can influence one physically and well as psychologically (Sousou & Smart, 2015). With a loss of a fetus, it can be devastating for the mother and the father. Most times anxiety and depression are needing to be addressed in the couple.Most pregnancies affected with Turner syndrome end up in miscarriage or stillbirth. If the baby does survive through birth most treatment begins after the delivery. As far as nursing management goes it is important to monitor the fetus as well care for the couple emotionally. It is important to monitor the fetus to check and see if there is a heartbeat still. The primary nursing management is caring for pregnant women and family members emotionally. The emotional worry from the time of suspecting a problem to an actual diagnosis can be hard on the couple. Sadness will occur when their unborn child dies. It is crucial that the woman has a support system to get through this devastating time. As a nurse, it is important to help the mother identify her feelings and express them. Being an active listener and just being present for the woman can make all the difference.Turner syndrome is a condition that only affects females. It results when one of the X chromosomes is missing or partially absent (Turner Syndrome: Symptoms, Causes and Treatment, 2017). There is no link to the family history of being a risk factor. It is unlikely that parents with one child who has Turner syndrome will have another one with the chromosome condition. The X chromosome alteration is random. It is uncertain what causes the cell division error. It can occur due to a problem with the sperm or egg. It can also happen early in fetal development.There is a very high risk of miscarriage or stillbirth in pregnancies that diagnosis the fetus with Turner Syndrome. Those who can carry out the pregnancy can have a baby girl live a normal life with Turner syndrome (Clinical Practice Guidelines for the Care of Girls and Women with Turner Syndrome, 2017). There is not a cure for Turner syndrome, but hormone and growth replacement therapy can help manage the condition. It is important to solidify to the patient that the odds of the condition recurring in a future pregnancy are low. It is also important as the nurse to teach the patient signs of depression and resources available.
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