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Question

Amniocentesis in early pregnancy for genetic disorders is a kind of

The correct answer is
secondary prevention

Understanding Amniocentesis as Secondary Prevention

Amniocentesis is a medical procedure used during pregnancy to obtain a sample of amniotic fluid. This fluid contains fetal cells that can be analyzed for chromosomal abnormalities and genetic disorders.

Levels of Prevention Explained

Prevention strategies are categorized based on their timing and goal:

  • Primordial Prevention: Aims to prevent the emergence of risk factors in the first place (e.g., promoting healthy lifestyles before disease patterns emerge).
  • Primary Prevention: Aims to prevent a disease or injury from occurring (e.g., vaccination, using condoms).
  • Secondary Prevention: Aims for early detection and prompt treatment of existing conditions to halt or slow their progression (e.g., screening tests like mammograms, Pap smears).
  • Tertiary Prevention: Aims to reduce the impact, complications, and disability of established diseases (e.g., rehabilitation after a stroke).

Amniocentesis Fits Secondary Prevention

When amniocentesis is performed in early pregnancy to screen for genetic disorders, it falls under secondary prevention. Here's why:

  • The procedure is used to detect conditions (genetic disorders) that may already exist at the chromosomal or genetic level within the fetus.
  • Early detection allows for timely medical intervention, management planning, or informed decision-making regarding the pregnancy.
  • It is not preventing the genetic abnormality from occurring (primary) nor preventing risk factors from emerging (primordial). It also doesn't address established, symptomatic disease (tertiary).

Therefore, amniocentesis for genetic disorder screening is a method of early detection and diagnosis, characteristic of secondary prevention.

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Important Questions from Genetic Disorders & Public Health

  1. Which one of the following conditions is NOT inborn error of metabolism?
  2. Amniocentesis is called for in all of the following circumstances EXCEPT:
  3. Consider the following pairs of genetic diseases that show Mendelian inheritance. Each of the following pairs represents a genetic disease and it has been matched with a type of inheritance :
    1Cystic fibrosisAutosomal recessive
    2Huntington's choreaAutosomal dominant
    3Marfan's syndromeRecessive sex-linked
    How many of the pairs given above are correctly matched?
  4. Consider the following statements : 

    Statement I: 

    Signs of thalassemia major usually develop after 6 months of age. 

    Statement II: 

    This is the time when haemoglobin synthesis switches from haemo-globin F to haemoglobin A.

     Which one of the following is correct in respect of the above statements?

  5. Cystic fibrosis involves which of the following organs?
    1. Lungs
    2. Liver
    3. Pancreas
    4. Kidney

    Select the correct answer using the code given below.
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