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Edwards syndrome facies
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Cystic fibrosis Lifetime treatment 70,000 worldwide Exomphalos Operable 1 in 3,000 live births Gastroschisis Operable 1-5 per 10,000 live births Down syndrome (Trisomy21) Untreatable 1 in 700-900 PatauSyndrome (Trisomy13) Very limited life rate 1 in 10,000 Edwards' Syndrome (Trisomy18 Newborns have a 40% chance of surviving to age 1 month. Infants have a 5% chance of surviving to age 1 year. Children have a 1% chance of surviving to age 10 years. [Source: patient.co.uk] (patient.co.uk) 1 in 6,000 Survival, and Recurrence Risk Parental Concerns Parental concerns are mostly essential in Edwards’s syndrome. They need counselling regarding their family relationships. But the children and parents need more psychological support especially for mother, because mother is the sufferer of Edward syndrome babies. …show more content…
Parental concerns are mostly essential in Edwards’s syndrome. They need counselling regarding their family relationships. But the children and parents need more psychological support especially for mother, because mother is the sufferer of Edward syndrome babies. . But in some cases the parents need to be encouraged by healthcare professionals the trend has been implemented by largely physician-directed model of medical decision making to a collaborative model, which mean respect to the parent’s decision by making health care decisions for their children’s effective medical treatment. Mostly the Edwards syndrome is affected in all countries with available statistics. Health care management is essential to take the step in creating awareness, the doctors for updating the diseases information with support of children’s parents. Hope fully, the new studies are helpful to treat the
Twin studies have been used to distinguish between genetic and environmental factors for many disorders in the general population including ectodermal dysplasia, Ellis-van Creveld, and anencephaly. This review focuses on genetic disorders affecting monozygotic, dizygotic, and conjoined twins to gain a better understanding of them. Many studies focus on twins because they have a nearly identical genome, which eliminates environmental factors. In case studies, the concordance rates in monozygotic twins have supported that certain disorders were caused by genetics and not the environment. The discordant values in twins will also be evaluated briefly. Twinning studies have also shown linkages between specific disorders and the genes responsible for them. Knowing the location of these genes allows patients to be treated quickly and efficiently. This paper will discuss the possible causes of twinning and the various methods of identifying abnormalities in twins. These methods also allow preventive measures against the rise of birth defects during prenatal development. Epigenetics in twins is also viewed through the perspective of effects on them. Treatments for genetic disorders in twins are reviewed, ranging from the restoration of malformed teeth to the separation of conjoined twins. Support groups for twins in treatment, and their families are also briefly reviewed.
In the United States, approximately 2 million children are living with life threatening conditions and 18,000 new born die within the first 28 days of life due to prematurity/immaturity, infection, and congenital anomalies annually (Thibeau 2012). Globally 450 newborns die every hour (Eden 2010).
Peterson-Iyer, Karen. "Confronting a Fetal Abnormality." http://www.scu.edu. Santa Clara University, Jan. 2008. Web. 13 Mar. 2014. .
This birthing plan is often documented in the patient’s medical record which aids the health care staff during the birthing event. Documentation and discussion of these events is often necessary to ensure all the needs of the family are met. Too often all the potential needs are not discussed and the opportunity to meet the needs of the new family is missed. These missed opportunities can result in emotional and religious conflicts within the family unit and toward the health care staff. For the nurse leader these missed opportunities in care could result in unfavorable patient satisfaction scores and reports within and outside the institution which necessitates follow up. The most important missed opportunity is how this affects the family unit itself. Depending on the missed opportunity the family unit may be affected for years based on questions not asked or decisions made with poor information. Some cultures must bury the placenta after birth and if this was not discussed and the placenta discarded the religious implications could be devastating for this family. Application of Henderson’s need theory guides the nurse in the educational plan for the patient-family unit to ensure all basic needs are covered and questions related to those needs are posed in advanced of the birthing
Prognosis for a child born with Trisomy 13 is very little but such babies are stillborn. Some babies with
This genetic disorder is not specific to a certain age, ethnic group, or gender; theref...
Jonathan Juste 4/21/14 Hum. Bio Analysis of Angelman Syndrome In 1965 , Dr. Harry Angelman, an English physician, first described three children with characteristics now known as the Angelman syndrome. Angelman syndrome is a neuro-genetic disorder that is usually diagnosed at a very young age, and it happens within 1 in every 15,000 births.
This can be diagnosed during the pregnancy or after the baby is born. “Anencephaly would result in an abnormal result on a blood or serum screening test or it might be seen during an ultrasound.” This birth defect is more common in girls than boys. There is also no cure or standard treatment since most die shortly after birth. As a way to offer support to these families, many hospitals offer perinatal hospice care. A perinatal hospice approach helps these families through the process: pregnancy, birth, and death. ("Facts about
A premature baby is born before 36 or 37 weeks of a female 's pregnancy. Premature infants are born too soon and do not have the capacity to survive on their own. Their organs are immature. These newborn children have a tendency to be underweight and needing earnest consideration. Being an premature child can be the essential enemy of all babies. The rate of untimely children have ascended tremendously. Somewhere around 8 and 10 percent of them have been birthed in the United States (“"National Prematurity Awareness Month.”). Dealing with an premature infant is extremely milestone in life, because of their confusions and uncommon needs required.
Birth defects. (2013, November 6). Retrieved January 19, 2014, from Centers of Disease Control and Prevention website: http://www.cdc.gov/ncbddd/birthdefects/DownSyndrome.html
Most cases of Down syndrome are not inherited. When the condition is caused by trisomy 21, the chromosomal abnormality occurs as a random event during the formation of reproductive cells in a parent. The abnormality usually occurs in egg cells, but it occasionally occurs in sperm cells. An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of chromosome 21. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an extra chromosome 21 in each of the body's cells.
There are more than 70% of premature babies that are born between 34 and 36 weeks gestation a year. When a baby is born early, or born with birth defects, the Neonatal Intensive Care unit is its first home. The nurse’s in the NICU have the difficult job of preparing baby’s and parents for a health life together. A baby who has been put into the NICU will stay there until it is healthy enough to go home.
...and attachment and in development of brain and the health of the baby. I recommended from each staff to use family centre care while she is providing care at any results in the patients
We have all heard stories of a friend or family member trying to conceive but failing at it for unknown reasons. They spend years, thousands of dollars and many tears only to still not conceive. Then, the woman is finally given the diagnosis of endometriosis. Based on statistical evidence and studies endometriosis is the leading cause of infertility in woman of reproductive age. Not only is it a devastating diagnosis but also an extremely hard disease to diagnosis. At times getting misdiagnosed and ignored by medical professionals. Leading to more years of pain for the woman suffering from a very debilitating disease.
...s care of health in a proper way. Follow medicines prescribed by your doctor as it keeps yours and baby’s health safe and in proper condition with required medication.