Woman is 9 weeeks pregnant and has a 10 year old Down’s synd

Discussion in 'AIIMS Nov 2013' started by Guest, Jan 5, 2011.

  1. Guest

    Guest Guest

    Woman is 9 weeeks pregnant and has a 10 year old Down’s synd

    A 32-year-old woman is 9 weeeks pregnant and has a 10 year old Down’s syndrome child. What test would you recommend for the mother so that she can know about her chances of getting a Down’s syndrome baby in this present pregnancy. How will you assure the mother about the chances of Down’s syndrome in the present pregnancy?
    A. Blood test
    B. USG
    C. Chorionic villus sampling
    D. Assure her there is no chance since she is less than 35 years of age
  2. Guest

    Guest Guest

    Reference: High-risk pregnancy. Fernando Arias, page 45.

    Answer: A. Blood test

    Explanations
    Screening methods chromosomal abnormalities.
    First trimester
    • Maternal age.
    • NT
    • NB (nasal bone)
    • Free beta+free-h CG+Papp-A
    • NT+NB+free beta –hCG+Papp-A.
    Second trimester
    • Triple test
    • Quad test
    • Genetic sonogram
    • Quad test+genetic sonogram.
    First plus second trimester
    • Integrated test
    • Sequential test (stepwise or contingent).
    Since USG for soft tissue markers are done at 10-13 weeks, it would be ideal to go for blood tests to predict the possibility of Down’s syndrome at this time.
    Though, it would be possible to get an accurate diagnosis with Chorionic Villus Sampling followed by Karyotyping and FISH, it would not be advisable to do so taking into account the possibilities of miscarriage associated with the procedure and if it was a normal fetus. Blood tests would give a reasonably good prediction regarding the possibilities of a Down’s baby. And with the test results in hand the protocols for further screening should be carried out (flowchart in the book)

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