Lauren Has Been A Pediatric Nurse At A Children's Hospital

Lauren Has Been A Pediatric Nurse At a Childrens Hospital For The Pas

Lauren has been a pediatric nurse at a children’s hospital for the past 7 years. Recently, she began a new job in a genetics office. One case involves Emily and Brad Davis. Emily, a young white female in her mid-twenties, is pregnant, likely in her mid-trimester. Brad, her husband, is a young white male. During their consultation, Lauren gathers medical history, finding that Emily is 28 weeks pregnant, they have a 4-year-old daughter diagnosed with cystic fibrosis, and no immediate family members have cystic fibrosis, though a cousin on Emily’s mother’s side does. Brad recalls a great-uncle on his father’s side who was ill most of his life and died at age 9. The couple is worried about the risk of their unborn child having cystic fibrosis.

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Genetics play a crucial role in understanding hereditary diseases, with cystic fibrosis (CF) being a prominent example of an autosomal recessive disorder. Cystic fibrosis falls under the category of monogenic autosomal recessive disorders, caused by mutations in the CFTR gene. Individuals with two copies of the mutated gene typically display the disease, while carriers possess only one copy and do not manifest symptoms. The fact that neither Emily, Brad, nor their siblings have CF indicates that both are likely carriers, each possessing one mutated and one normal allele. When two carriers have a child, there is a 25% chance that the child will inherit two mutated alleles and develop CF, a 50% chance the child will be a carrier, and a 25% chance the child will inherit two normal alleles.

The absence of CF in the family’s immediate relatives suggests the disease is inherited in an autosomal recessive pattern, which requires both parents to be carriers for a risk of affected offspring. The family history reveals a cousin on Emily’s maternal side who has CF, indicating that Emily's risk of being a carrier is elevated compared to the general population. Brad's family history shows a great-uncle who was ill most of his life and died at age 9; however, without a confirmed diagnosis, this case's relevance is uncertain. It could potentially relate to a hereditary disorder such as CF or another genetic condition, but it may also be attributed to other childhood illnesses or congenital disorders.

Given this information, the probability that Emily and Brad are carriers is significant, especially considering the cousin with CF. To accurately assess their risk, offering genetic testing for both Emily and Brad's CFTR gene mutations is essential. If both are confirmed carriers, their chance of having an affected child is 25%. If only one is a carrier, the risk diminishes but remains a consideration for future pregnancies. Prenatal options, including chorionic villus sampling or amniocentesis, can detect whether the fetus has CF, allowing the couple to make informed decisions regarding their pregnancy.

In counseling the Davises, it’s important to explain the autosomal recessive inheritance pattern and the implications for their current pregnancy and future children. If both are carriers, they should be aware of reproductive options like in vitro fertilization with genetic testing, embryo screening, or the use of donor sperm to reduce the risk of CF. They should also be informed about the importance of carrier screening for extended family members, as other relatives might also be carriers. Offering support resources and genetic counseling can help them navigate their options with a clear understanding of the risks and potential outcomes.

The case of the great-uncle who died at age 9 raises questions about his health history, but without specific diagnosis or genetic testing, it remains speculative. His early death could have been due to CF complications, such as respiratory failure or malnutrition, common in untreated CF cases. Alternatively, it may have been caused by a different hereditary or congenital disorder. Gathering more medical history from the family could clarify whether his illness was linked to CF or a different genetic condition, assisting in evaluating the family’s overall genetic risk.

Overall, understanding the inheritance patterns, detailed family history, and available genetic testing options are critical steps in providing comprehensive care and counseling to families like the Davises. This case underscores the importance of integrating genetics into routine clinical practice to prevent and manage hereditary disorders effectively.

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