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Down's Syndrome is caused by trisonomy of chromosome 21 (the child carries an extra chromosome 21). 40% of Down's Syndrome have an associated heart defect. These heart conditions vary from small holes in the heart to more complex problems which may require major open heart surgery. In a small number of children the condition may be so severe that they are inoperable, but the majority are suitable for surgery and their prognosis is very good Early failure to thrive may be indicative of a heart problem, bu some babies may not show symptoms for several months and it is not always possible to detect a heart defect purely by clinical examination. Therefore all babies with Down's Syndrome should have an echocardiogram performed. |
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Inheritance Patterns: Most cases of Down's Syndrome are sporadic but there is a small risk of recurrence in further pregnancies. The incidence of Down's Syndrome is related to maternal age. The older the mother, the higher the risk of an affected child. However, in a minority (3-4%) of cases, a mother may have a balanced translocation of chromosome 21. This means that the condition is inheritable. Genetic advice may be sought in all cases. Amniocentesis is normally offered to all mothers over 37 years of age. Recently a blood test in pregnancy (known as the Barts test) has been used for screening where there is no family history of Down's Syndrome. Pre-natal diagnosis: Amniocentesis is usually at 16 weeks but results may not be available until 20 weeks. Chorionic villus sampling usually available at 10-12 weeks. Fetal heart scans are also used. |
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Further information available from: Penny Green, e-mail:
info@dhg.org.uk
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The Down's heart group is a National Registered Charity No. 1011413 which started as a self-help group in 1989. It offers:
Activities:
The group represents the families of over 750 children and over 75 affected adults. |
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