Trisomy 21 is a congenital disorder when a person is born with an extra chromosome. Normally, a baby is born with 46 chromosomes; a Down syndrome baby has a total of 47 chromosomes. This extra chromosome changes the babies’ brain and body development, which may cause physical and mental delays and challenges for the baby. It is caused when an error occurs during cell division.
This error is called nondisjunction normally, when one cell splits into two, the pairs of chromosome are separated so one will go to one cell, and the other goes to another cell. In nondisjunction, there is an error were both chromosomes will go into one cell and none will go into the other. *What are the risk factors for this disorder and can the risks be minimized? There have been no evident environmental factors or behavioral activities of the parents that have been found to cause Down syndrome.
In approximately 95% of babies born with Down syndrome, the extra chromosome comes from the mother’s egg. In approximately 4% of babies born with Down syndrome, the extra chromosome comes from the fathers sperm and in the remaining babies born with Down syndrome, the error takes place after fertilization The progressing maternal age of the mother affects the risk of having a baby with Down syndrome. Down syndrome is seen in 1 in 2000 births for women under the age of 30.
By the time A women reaches age 35, her risk of having a child with Down syndrome is about 1 in 350, by 40 that risk jumps to 1 in 100, but for women over the age of 45 the risk of having a baby with Down syndrome increases to 1 in 30 births, due to the age of the maternal egg cell. The chances of a women giving birth to a baby with Down syndrome increases because older eggs have an increased risk of an error happening during the chromosome division however, most babies born with Down syndrome are born to women under the age of 35 because these women have more babies than older ones.
A woman who already has a child with Down syndrome has approximately a 1 in 100 incident rate of having another baby with Down syndrome. There’s no way to prevent having a baby with Down syndrome. If you already have had a baby that has Down syndrome or you are at high risk, you can seek a genetic counselor before deciding to have a baby. A genetic counselor can evaluate your risks of having a baby with Down syndrome. *What screening tests were available to screen for this prenatal disorder and to diagnose at birth? Screening tests for Down syndrome are typically a routine practice during prenatal care.
In the first trimester of pregnancy a blood test and an ultra sound are performed. A blood test is performed to measures the level of pregnancy-associated plasma protein and the pregnancy producing hormone called human chorionic gonadotropin. This test may indicate if there is a problem with the baby. An ultrasound is performed to measure the back of the baby’s neck. This is called a nuchal translucency screening test. If more fluid than usual is found in this area of the neck tissue this may indicate that abnormalities are present. Chorionic villus sampling is a prenatal test typically done between the 10th and 13th week of pregnancy.
The chorionic villi are tiny finger-shaped branches of placental tissue that hold the fetuses’ genetic makeup. A sample of the chorionic villus may be collected through the mother’s cervix or through her abdominal wall. Chorionic villus sampling can be used to reveal whether a baby has Down syndrome. Cell-free fetal DNA analysis checks for fetal DNA traveling in the mother’s blood. This test is encouraged for women with high risk Down syndrome pregnancies or due to an increased risk detected by one of the previous tests. This test is more specific for Down syndrome.
Amniocentesis is when a syndrome. Amniocentesis is when a sample of the amniotic fluid is collected with a large bore needle that is inserted into the mother’s uterus through her abdomen. The chromosomes of the baby can be analyzed using this sample. This test is typically performed in the second trimester. There is a slight risk of miscarriage when performing this test. Cordocentesis is when the fetus’s blood is removed from a vein in the umbilical cord and analyzed for chromosomal defects. This test is usually performed between the 18th and 22nd week of pregnancy.
Due to the significantly higher risk of miscarriage, it’s only offered to patients when other results can’t be obtained any other way or are unclear. Diagnostic tests for Down syndrome for newborns after birth are typically based on the physical appearance of the baby. If the physician feels that the baby possibly may have Down syndrome, they will order a test called chromosomal karyotype. This blood test can analyze the baby’s chromosomes. If an extra chromosome is present in some or all of the cells, the baby will be diagnosed with having Down syndrome.
How could you respond if the mother asks you, “Did I do something wrong to cause this to happen to my baby? I would tell her that there have been no evident environmental factors or behavioral activities of the parents that have been found to cause Down syndrome and to assure her that she did nothing to cause this. *Locate and evaluate an APPROPRIATE patient education web site to refer the patient / family. http://www. ndss. org/Resources/ New-Expectant-Parents/Understanding-a-Diagnosis-of-DownSyndromel Question #2 Mrs. S, a 74 year old female, was brought to the ER by ambulance.
Her daughter, when calling her for dinner, noted that patient was still sleeping at around 6:00pm. When she tried to wake up Mrs. S up, she responded very sluggishly, showed limited movement and was unable to speak clearly. The ambulance was called and transported Mrs. S to the ER. Mrs. S’s history includes: HPN controlled with an angiotensin-converting enzyme (ACE) inhibitor and a Beta blocker; Type II DM controlled with diet and an oral hypoglycemic; and a mastectomy at age 42 y/o followed by chemotherapy. A cardiovascular accident (CVA) was confirmed with an MRI. Differentiate between the four types of strokes, contrasting cause and presentation. Thrombotic Stroke: Results when a bold clot forms in an artery that supplies blood to the brain. This will block blood flow to a part of the brain and cause brain cells in that area to stop functioning and die quickly. Some risk factors are hypertension, smoking, diabetes, family history or history of transient ischemic attack, Race (African-Americans are at increased risk of stroke). A thrombotic stroke may present as neuro deficits, sudden decrease in the level of consciousness.
The patient may experience muscle weakness or partial paralysis restricted to one side of the body, numbness in the face, an arm, or a leg, monocular or binocular visual loss, diplopia, visual field deficits, facial drooping, aphasia, vertigo, or headache. Embolic Stroke: Results when a blood clot or emboli, an emboli can be caused by an air bubble, plaque from an artery wall or fat, form somewhere else in the body. The emboli travels to the brain causing an obstruction thus causing ischemia to a part of the brain. This usually happens at a bifurcation or narrowing of a vessel.
Symptoms of an embolic stoke may present as a neuro deficit, sudden decrease in the level of consciousness. The patient may experience muscle weakness or partial paralysis restricted to one side of the body, numbness in the face, an arm, or a leg, monocular or binocular visual loss, diplopia, visual field deficits, facial drooping, a, aphasia, vertigo, or headache. Hemorrhagic Stroke: Results from a weakened artery in the brain that ruptures or leaks and bleeds into the brain tissue causing swelling and pressure thus damaging cells and tissue in the brain.
Hemorrhagic Strokes can result from uncontrolled hypertension, aneurysms, over treatment of anticoagulation therapy or head trauma. Symptoms that may occur are a sudden severe headache, loss of consciousness, lethargy, numbness/weakness in an arm or leg, seizure, loss of fine motor skills/coordination/balance, vision changes, nausea or vomiting, difficulty speaking or understanding speech, difficulty reading or writing or a headache. Lacunar Stroke: Results from an occlusion of one of the deep penetrating arteries that provides blood to the brain.
Lacunar strokes are caused by an embolus or blood clot that forms in the body away from the brain and travels through the vascular system and into the brain. These are rare because it is difficult for a blood clot or embolus to make its way into the smaller arteries deep in the brain. Symptoms that may occur are a sudden severe headache, loss of consciousness, lethargy, numbness/weakness in an arm or leg, seizure, loss of fine motor skills/coordination/balance, vision changes, nausea or vomiting, difficulty speaking or understanding speech, difficulty reading or writing. Discuss why factors in Mrs. S history increased her risk for having a CVA. According to an American Heart Association study it suggests that achieving controlled hypertension with medication may prevent 27% of ischemic strokes and 57% of hemorrhagic strokes. This study shows that Mrs. S may still be at risk for having a CVA even with her hypertension being controlled.
According to The American Heart Association diabetes is one of the seven major controllable risk factors for cardiovascular disease, even with controlled glucose levels, the risk of heart disease and stroke is greatly increased. Describe why sluggishness, impaired movement and impaired speech are common manifestations of a stroke. There are several factors that can cause sluggishness after a stroke such as, upper and lower limb weakness and paralysis can make moving and activities of daily living require the use of more energy. Irregular sleep cycles or disrupted sleep can make you more tired. Medications may make you drowsy or pain my make it more difficult to cope and require more energy. The location in the brain where your stroke occurred will determine where in the body you experience impaired movements or weakness.
If the stroke occurred in the left hemisphere of the brain, right-sided weakness can occur along with speaking and language deficits. If the stroke occurred in the right hemisphere of the brain leftsided weakness can occur. Two disorders that may impair speech after are stroke are aphasia (difficulty with language) and dysarthria (difficulty with articulation). These two disorders are not necessarily associated with a loss of the ability to understand or think but, caused by paralysis or weakness of muscles in the mouth, neck, face, or throat. It can result in slurring or words, labored slow speech or a change the quality of voice.
Describe why cerebral edema is a dangerous complication of stroke. Cerebral edema or swelling of the brain causes increased pressure on the brain. Swelling usually occurs quickly and becomes most severe within 3 to 5 days after the stroke, and may lead to death. Cerebral edema causes damage to the brain tissue due to the increased intracranial pressure. An increase in pressure shifts brain structures and causes brain herniation, this contributes to hydrocephalus which can put extreme pressure on brain tissue, and restrict blood supply to the brain
