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Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

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What Does Down Syndrome Mean?

My daughter just went for her first trimester screening (For Down Syndrome, cleft Lip , etc. ) along with doing Ultrasound. First blood test were fine, today Ultra sound fine, but now DR. saying blood test show a 1% out of 44& for Down Syndrome. I am not able to be there with her , and she is upset and confused, what does this mean ? Is it more positive for it than not? Also, i have heard often the first screening comes out positive . Please help in anyway you can..thank you
posted on Fri, 14 Mar 2014
Twitter Fri, 25 Apr 2014 Answered on
Twitter Fri, 25 Apr 2014 Last reviewed on
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Radiologist,  's  Response
Hi,
Thanks for writing in.

Downs syndrome is a genetic abnormality in a child who has an extra chromosome and the child may have certain abnormalities with respect to mental and physical health. The chance of such a chromosomal abnormality increases with the mothers age during pregnancy. There are tests which can be done and as a result your daughters chances of having such an abnormal child is one in 44. Further confirmatory tests may be done with genetic counselling so that the birth of a healthy child is assured.
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What Does Down Syndrome Mean?

Hi, Thanks for writing in. Downs syndrome is a genetic abnormality in a child who has an extra chromosome and the child may have certain abnormalities with respect to mental and physical health. The chance of such a chromosomal abnormality increases with the mothers age during pregnancy. There are tests which can be done and as a result your daughters chances of having such an abnormal child is one in 44. Further confirmatory tests may be done with genetic counselling so that the birth of a healthy child is assured.