Book To Read: Genetic Rounds By Dr. Robert Marion Pick

Book To Read Genetic Rounds By Dr Robert Marion Pick 4 Case Study

Book to read: Genetic Rounds by Dr. Robert Marion, pick 4 Case Study . Married couple is expecting, the child has a disorder that you chose on the list. They will evaluate the situation by investigating the issue that will need to be evaluated before birth and after in the terms of care. The birth cannot be terminated spontaneously or otherwise and there will be no still births.

Issues to address 1. Could the disorder be detected by prenatal testing? What type of test would be most accurate? if not how is it diagnosed? Use your knowledge of genetic technology to answer the question. 2.

Did the baby need any medical assistance at birth or directly after? 3. Looking at normal milestones for the first two years in three month increments, what type of developmental delays will the experience in terms of milestones? 4. What kind of support services will the child require in order to help them catch up on their mild stones?

5. What are the physical, psychological, and social impact of the disorder? 6. Describe the impact of the disorder on the educational processes. 7.

What agencies or resources will be helpful to you? 8. What kind of legal provisions will need to be made you and your spouse are either deceased or too old to care for the child? Separate two pages of peer review journal from one at of the four cases you choose.

Paper For Above instruction

The case study involving a pregnant couple expecting a child with a genetic disorder requires a comprehensive analysis of the genetic, medical, developmental, social, educational, and legal implications of the diagnosis, as well as available resources and interventions. For the purpose of this discussion, I will select cystic fibrosis (CF) as the genetic disorder, given its prevalence, well-understood genetics, and significant impact on affected individuals and their families.

Prenatal Detection of Cystic Fibrosis:

Cystic fibrosis is a recessive inherited disorder caused by mutations in the CFTR gene. It can often be detected prenatally through carrier screening and diagnostic testing. Carrier screening involves genetic testing of the parents to determine if they are carriers of CF mutations. If both parents are carriers, there is a 25% chance with each pregnancy that the child will have CF.

Diagnostic testing, such as chorionic villus sampling (CVS) performed around 10-12 weeks of pregnancy or amniocentesis conducted around 15-20 weeks, can definitively identify whether the fetus has CF. These tests analyze fetal DNA for known CFTR mutations. Advances in molecular genetic technology have increased the accuracy and reduced the risks associated with these procedures.

Non-invasive prenatal testing (NIPT) using cell-free fetal DNA from maternal blood is emerging as a less invasive screening method, but its application for CF detection remains in the developmental and validation stages, primarily used for aneuploidy screening. Hence, confirmatory invasive testing remains the gold standard for diagnosis.

Medical Assistance at Birth or Immediately After:

Children with CF are often born healthy but require immediate medical intervention. After birth, newborn screening programs in many countries include tests for elevated immunoreactive trypsinogen (IRT) levels, which serve as a preliminary indicator. Confirmatory sweat chloride testing is then performed to diagnose CF definitively.

Babies diagnosed with CF typically need prompt initiation of nutritional support, pancreatic enzyme replacement therapy, and respiratory management. This may include antibiotics, physiotherapy, and airway clearance techniques. Early intervention is crucial to manage respiratory complications and promote growth and development.

Developmental Milestones and Delays:

Children with CF, depending on disease severity and management, may experience delays in achieving developmental milestones, especially related to growth, respiratory health, and neurodevelopmental progress. Typically, in the first two years, milestones such as sitting (around 6 months), crawling (around 9 months), walking (around 12 months), and speaking (around 18 months) may be delayed by several months.

The primary delays are often physical—failure to thrive due to malabsorption and nutritional deficiencies—and respiratory-related, leading to fatigue that hampers mobility and activity. Cognitive development is generally preserved if nutritional and medical management are effective, although some children might experience subtle delays due to recurrent illness or hospitalizations.

Support Services and Interventions:

To facilitate catch-up development, children with CF require multidisciplinary support. Nutrition specialists are essential to optimize diet and enzyme therapy. Respiratory therapists help manage pulmonary health through physiotherapy and medication regimens. Speech and occupational therapists support language and motor skills development if delayed.

Early childhood intervention programs, including developmental screenings and tailored therapies, play a critical role. Schools may require individualized education plans (IEPs) to accommodate respiratory needs and episodic illness. Psychosocial support for the family is also vital, given the chronic nature of CF and its impact on family dynamics.

Physical, Psychological, and Social Impact:

Physically, CF causes thick mucus buildup affecting the lungs, pancreas, and other organs. This results in chronic respiratory infections, malnutrition, and reduced lifespan. Psychologically, living with a chronic illness can lead to stress, anxiety, and depression in both the child and caregivers. Socially, children with CF may face stigma or limitations in participation, impacting self-esteem and peer relationships.

The social impact extends to family life, with caregivers often experiencing emotional strain, financial burden due to medical costs, and challenges in daily care routines. Educational settings might need accommodations, and social integration may require support to ensure holistic well-being.

Educational Impact:

CF can influence education by necessitating accommodations during illness episodes, including missed school days and special support for managing medical care during school hours. Cognitive functions are typically unaffected directly by CF, but fatigue and hospitalizations can impact learning. Schools should provide tailored support, including flexible scheduling, medication administration accommodations, and psychosocial support to ensure educational continuity.

Helpful Agencies and Resources:

Relevant organizations include the Cystic Fibrosis Foundation (CFF), which offers resources, research updates, and patient support programs. Local health departments provide screening, early intervention, and care coordination services. Genetic counselors assist families with understanding inheritance patterns and reproductive options, while pediatric pulmonologists and nutritionists are critical care providers. Support groups enable families to share experiences and coping strategies.

Legal Provisions and Future Planning:

Legal planning is essential in cases where parents are deceased or unable to care for the child. Establishing guardianship through legal processes, such as will or trust, ensures continuity of care. Additionally, healthcare directives, powers of attorney, and long-term care agreements should be documented. Policies advocating for access to ongoing medical treatment, disability rights, and educational accommodations are fundamental legal considerations.

Peer-Reviewed Literature:

To support these perspectives, two peer-reviewed articles were selected:

1. O’Sullivan, B. P., & Freedman, S. D. (2009). Cystic fibrosis. The Lancet, 373(9678), 1891-1904. This article provides comprehensive insights into CF pathology, diagnosis, and management strategies.

2. Cohen, R., & O'Neill, S. (2018). Psychosocial aspects of cystic fibrosis. Pediatric Pulmonology, 53(5), 611-618. It discusses the psychological and social burdens faced by patients and families.

In conclusion, managing a pregnancy where the fetus is diagnosed prenatally with cystic fibrosis involves a multidisciplinary approach encompassing precise prenatal diagnosis, immediate postnatal care, developmental support, and legal planning. Resources and legal measures ensure optimal quality of life and future security for the child, emphasizing the importance of early detection and comprehensive care strategies in improving outcomes for children with CF.

References

1. O’Sullivan, B. P., & Freedman, S. D. (2009). Cystic fibrosis. The Lancet, 373(9678), 1891-1904.
2. Cohen, R., & O'Neill, S. (2018). Psychosocial aspects of cystic fibrosis. Pediatric Pulmonology, 53(5), 611-618.
3. Cutting, G. R. (2015). Cystic fibrosis genetics: From molecular understanding to clinical application. Nature Reviews Genetics, 16(1), 45-56.
4. Flume, P. A., & Mogayrey, R. (2017). Advances in cystic fibrosis care and treatment. Journal of Cystic Fibrosis, 16(4), 434-441.
5. Petersen, F., & Doring, G. (2014). Cystic fibrosis and nutrition. Pediatric Clinical North America, 61(3), 539-551.
6. Goss, C. H., & et al. (2019). Pulmonary management of cystic fibrosis. Respiratory Medicine, 155, 190-200.
7. Ratjen, F., & Doring, G. (2003). Cystic fibrosis. The Lancet, 361(9358), 681-689.
8. Maitra, S., & et al. (2020). Long-term outcomes in cystic fibrosis. Journal of Pediatric Gastroenterology and Nutrition, 70(2), 232-239.
9. Stevenson, M., & et al. (2021). Psychosocial support for families with cystic fibrosis. Pediatric Pulmonology, 56(1), 59-67.
10. Daniel, R. (2017). Protecting the rights of children with chronic illnesses: Legal frameworks and advocacy. Child and Family Law Quarterly, 29(4), 345-370.