Family Educational Document-Down Syndrome
Information on Down’s Syndrome
Down’s syndrome is also referred to as Trisomy 21. It is a condition where a person is born with an additional chromosome—the additional chromosome results in delays in the physical and mental development of the child. The manifestation of the disease varies from one child to another, with some children needing a lot of medical attention while yet others live relatively healthy lives with minimal medical complications. The medical complications can be treated with many resources available for the child and the parents (Hodapp & Fidler, 2021).
Prenatal Screening and Diagnosis
Screening tests for DS include nuchal translucency testing, multiple marker tests, and genetic ultrasound. The nuchal translucency testing is performed between the 11th and 14th week of pregnancy, and an ultrasound is used to measure the clear space on the neck folds’ tissues of the developing baby. In DS, fluids accumulate, and the space is larger than in healthy babies. The odds of developing DS are calculated by computing the fluid measurement as well as the age of the mother and the fetus’ age. The multiple marker test measures the amount of markers (3 or 4) in the mother’s blood. The test is conducted between the 15th and 18th week of pregnancy. In the 18th to 20th weeks, a genetic ultrasound can be performed along with blood tests which check for the physical abnormality traits characteristic of DS (Krstić & Običan, 2020).
Diagnostic tests include chorionic villus sampling, amniocentesis, and cordocentesis. Chorionic villus sampling involves taking small placenta samples using a needle inserted in the abdomen or through the cervix. This test can be done as early as the first trimester, between the 10th and 12th weeks. However, the tests carry a high risk of miscarriage as well as other complications. Amniocentesis is a test performed between the 15th and 20th weeks of pregnancy and involves removing a small quantity of the amniotic fluid by using a needle inserted in the mother’s abdomen. The amniotic fluid cells are then analyzed to detect any abnormalities of the chromosomes. Amniocentesis has a risk of miscarriage or the mother going to pre-term labor. Cordocentesis, or percutaneous umbilical blood sampling, is often performed after 18 weeks gestation, where a blood sample is retrieved from the umbilical cord. It has risks similar to amniocentesis (Krstić & Običan, 2020).
Resources That Can Help to Care for the New Born and in the Future
Talking to parents who have a child with DS can help in dealing with the initial grief and disappointment over the pregnancy. Parents of a DS child will help the expectant couple accept the situation and look forward to the future. The couple can learn as much as possible about DS, and this will aid in easing their fears.
Although it may seem to be the last thing one would want to do, taking care of oneself is very important. A parent should spend time nurturing the relationships one has with other relatives, friends, and one’s partner. A parent should also accept help when the family, friends, and partner offer and should not be afraid to ask for help when feeling overwhelmed.
Having a medical professional in DS as the go-to physician besides the current NP or general practitioner is important. Some cities have a DS clinic that specializes in caring for DS children. Such a specialist will give the parents much-needed information and help monitor the growth and milestones that the child accomplishes (Gavin, 2015).
In addition to the specialist, the parents should seek to have the child enrolled in speech, occupational, and physical therapies. An early childhood educator will also help encourage and accelerate the child’s development. Most states have free services for early interventions for children aged 0 to 3 years with disabilities. After 3 years, the child can access educational services through the Individuals with Disabilities Education Act (IDEA) (Gavin, 2015). The child can attend a local district school where free and appropriate education is provided in an environment that is not restrictive and with an individualized education program (IEP).
References
Gavin M.L (2015). Down Syndrome. https://kidshealth.org/en/parents/down-syndrome.html
Hodapp, R. M., & Fidler, D. J. (2021). Down syndrome.
Krstić, N., & Običan, S. G. (2020). Current landscape of prenatal genetic screening and testing. Birth defects research, 112(4), 321-331.
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Question 
Family Educational Document-Down Syndrome
Competency
Design nursing care strategies which incorporate genetic and genomic risk factors.
Scenario
You are feeling passionate about developing information to share with your clients and families that have positive genetic testing results. A young couple approaches you concerned that they may have a child with Down syndrome as both the male and female in the relationship have siblings with Down syndrome. You decide to create an educational document that supports the family in their search for more information.
Instructions
- Describe educational information that a couple may need to know before the birth of their baby. What testing can be recommended? How is this testing done and when in the gestation?
- After birth, what resources can be offered to this couple to care for their newborn with Down syndrome?
- List and describe resources this family may access now and into the future to support care for their child with Down Syndrome into adulthood.
Family Educational Document-Down Syndrome
