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  • Does DS Run in Families?: What Is The Likelihood of Having A Second Child With DS?

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    Rimma Bataanon Datiles
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    While most cases of Down syndrome are not hereditary, the risk of having a second child with trisomy 21 is about 1% if the mother is under 40. For translocation Down syndrome, the risk of recurrence is 3% if the father carries the translocation and 10-15% if the mother carries it. Down syndrome can be screened for during pregnancy using tests like ultrasound exams and blood tests, and diagnosed via tests like amniocentesis. It can also be identified after birth based on physical traits such as low muscle tone, a single crease on the palm, a flattened facial profile, and upward slanted eyes.

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    While most cases of Down syndrome are not hereditary, the risk of having a second child with trisomy 21 is about 1% if the mother is under 40. For translocation Down syndrome, the risk of recurrence is 3% if the father carries the translocation and 10-15% if the mother carries it. Down syndrome can be screened for during pregnancy using tests like ultrasound exams and blood tests, and diagnosed via tests like amniocentesis. It can also be identified after birth based on physical traits such as low muscle tone, a single crease on the palm, a flattened facial profile, and upward slanted eyes.

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    19 views1 page

    Does DS Run in Families?: What Is The Likelihood of Having A Second Child With DS?

    Uploaded by

    Rimma Bataanon Datiles
    While most cases of Down syndrome are not hereditary, the risk of having a second child with trisomy 21 is about 1% if the mother is under 40. For translocation Down syndrome, the risk of recurrence is 3% if the father carries the translocation and 10-15% if the mother carries it. Down syndrome can be screened for during pregnancy using tests like ultrasound exams and blood tests, and diagnosed via tests like amniocentesis. It can also be identified after birth based on physical traits such as low muscle tone, a single crease on the palm, a flattened facial profile, and upward slanted eyes.

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    © All Rights Reserved
    Download as DOCX, PDF, TXT or read online from Scribd
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    of 1

    Does DS Run in Families?

    • All 13 types of DS are genetic conditions, but only 1% of all cases have hereditary
    component. Heredity is not a factor in trisomy 21 and mosaicism.

    • The age of the mother does not seem to be linked to the risk of translocation.
    Most cases are sporadic chance-events.

    What is the Likelihood of Having a Second Child with DS?

    • Once a woman has given birth to a baby with trisomy 21, it is estimated that her
    chances of having another baby with trisomy 21 is 1 in 100 up until age of 40.

    • The risk of reoccurrence of translocation is 3% if the father is the carrier and 10-
    15% if the mother is the carrier.

    How is DS Diagnosed?

    A. Prenatally

    • Two categories of tests

    1. Screening tests

    2. Diagnostic tests

    B. At birth

    • Identified at birth by presence of certain physical traits:

    1. Low muscle tone

    2. A single deep crease across the palm of the hand

    3. A slightly flattened facial profile

    4. An upward slant to the eyes

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