In the context of estimating and interpreting the recurrence risks for genetic disorders, which statement should nurses be aware of?
The risk factor remains constant regardless of the number of affected children in the family.
An autosomal recessive disease carries a one in eight risk of the second child also having the disorder.
Disorders involving maternal ingestion of drugs carry a one in four chance of being repeated in the second child.
With a dominant disorder, the likelihood of the second child also having the condition is 100%.
The Correct Answer is B
Choice A rationale:
This statement is incorrect. The risk factor for a genetic disorder can vary depending on the specific disorder and the family history. For example, the risk of having a child with an autosomal recessive disorder is higher if there is a history of the disorder in the family.
Additionally, some genetic disorders have a higher risk of recurrence than others. For example, the risk of having a child with cystic fibrosis is 25% if both parents are carriers of the gene.
It's crucial for nurses to be aware of the varying risk factors associated with different genetic disorders to provide accurate information and counseling to families.
Choice C rationale:
This statement is also incorrect. The risk of a disorder involving maternal ingestion of drugs being repeated in the second child depends on several factors, including the specific drug, the dose, and the timing of exposure.
It cannot be generalized to a one in four chance for all drug-related disorders. Nurses should consult with appropriate resources and specialists to determine the specific risks associated with different drugs and exposures.
Choice D rationale:
This statement is incorrect for autosomal dominant disorders. With an autosomal dominant disorder, the likelihood of the second child also having the condition is 50%, not 100%. Each child has a 50% chance of inheriting the affected gene from the affected parent.
It's essential for nurses to understand the inheritance patterns of different genetic disorders to provide accurate information and support to families.
Choice B rationale:
This statement is correct. An autosomal recessive disease carries a one in eight risk of the second child also having the disorder. This is because both parents must be carriers of the affected gene for a child to inherit the disorder.
If both parents are carriers, there is a 25% chance that each child will inherit two copies of the affected gene and have the disorder. However, there is also a 50% chance that each child will inherit only one copy of the affected gene and be a carrier, and a 25% chance that each child will inherit two normal copies of the gene and not be affected.
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Correct Answer is B
Explanation
Choice A rationale:
This statement is incorrect. The risk factor for a genetic disorder can vary depending on the specific disorder and the family history. For example, the risk of having a child with an autosomal recessive disorder is higher if there is a history of the disorder in the family.
Additionally, some genetic disorders have a higher risk of recurrence than others. For example, the risk of having a child with cystic fibrosis is 25% if both parents are carriers of the gene.
It's crucial for nurses to be aware of the varying risk factors associated with different genetic disorders to provide accurate information and counseling to families.
Choice C rationale:
This statement is also incorrect. The risk of a disorder involving maternal ingestion of drugs being repeated in the second child depends on several factors, including the specific drug, the dose, and the timing of exposure.
It cannot be generalized to a one in four chance for all drug-related disorders. Nurses should consult with appropriate resources and specialists to determine the specific risks associated with different drugs and exposures.
Choice D rationale:
This statement is incorrect for autosomal dominant disorders. With an autosomal dominant disorder, the likelihood of the second child also having the condition is 50%, not 100%. Each child has a 50% chance of inheriting the affected gene from the affected parent.
It's essential for nurses to understand the inheritance patterns of different genetic disorders to provide accurate information and support to families.
Choice B rationale:
This statement is correct. An autosomal recessive disease carries a one in eight risk of the second child also having the disorder. This is because both parents must be carriers of the affected gene for a child to inherit the disorder.
If both parents are carriers, there is a 25% chance that each child will inherit two copies of the affected gene and have the disorder. However, there is also a 50% chance that each child will inherit only one copy of the affected gene and be a carrier, and a 25% chance that each child will inherit two normal copies of the gene and not be affected.
Correct Answer is C
Explanation
Choice A rationale:
This response is incorrect because newborn screening tests do not determine blood type. Blood type is typically determined through a separate blood test, such as an ABO and Rh typing test.
While knowing a baby's blood type is important for medical reasons, it's not the primary purpose of newborn screening.
Focusing solely on blood type could mislead parents about the broader scope of conditions that newborn screening aims to identify.
Choice B rationale:
This response is incorrect because newborn screening tests are not diagnostic tests. They are screening tests, which means they identify babies who may be at risk for certain diseases, but they do not confirm whether or not a baby actually has a disease.
Diagnostic tests are typically more specific and are performed after a screening test has indicated a potential problem.
It's crucial to clarify the distinction between screening and diagnosis to avoid causing undue alarm or confusion for parents.
Choice C rationale:
This is the correct response. It accurately explains that newborn screening tests are routine procedures that are performed to detect babies who may be at risk for developing certain diseases.
The emphasis on "risk" is important because it highlights that a positive screening result does not necessarily mean that a baby has a disease, but rather that further testing is needed to confirm the diagnosis.
This response also avoids making assumptions about the parents' carrier status, which is a sensitive topic that should be addressed with care and discretion.
Choice D rationale:
This response is incorrect because it assumes that the parents are carriers for a disease, which may not be the case.
Even if the parents are carriers, newborn screening tests are not designed to specifically determine whether a disease has been passed down from parent to child.
Making such assumptions could create unnecessary anxiety or confusion for parents, and it's important to provide information that is accurate and relevant to their specific situation.
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