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Value of genetic counselling: a parent's view

BMJ 2001; 322 doi: (Published 28 April 2001) Cite this as: BMJ 2001;322:1071
  1. Arlene Smyth (
  1. Turner Syndrome Support Society

    When my daughter Kylie was born on a sunny June afternoon, I was delighted. She was a beautiful baby girl. Following emergency surgery after an earlier miscarriage, I had not been sure if I would ever have another baby, so this was a special time for the family. I noticed that her hands and feet were puffy and swollen. She was also a grey colour. I was told that this was because of poor circulation in the womb. During the first hours of her life the swelling got worse. Apaediatrician said he wanted to do some tests.

    The next day all the tests were complete and my husband and I went to see the consultant, who said Kylie had Turner's syndrome. We were confused; we had never heard of Turner's syndrome. To discover that your child has a chromosomal abnormality is traumatic enough, but when it is something you have never heard of it is even worse. Kylie was transferred to the baby care unit because of feeding difficulties. My husband …

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