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Edwards' syndrome

Inheritance patterns and prenatal diagnosis

Inheritance patterns
This is seen as being sporadic. In rare cases a balanced translocation in a parent can give rise to an unbalanced translocation in their child.

Prenatal diagnosis
Chorionic villus sampling at ten to twelve weeks and amniocentesis at sixteen weeks. The 'triple test' will detect approximately fifty per cent of cases. Routine detailed ultrasound scanning at eighteen weeks can detect up to eighty per cent of cases. A suspected diagnosis of Edwards syndrome can only be confirmed by amniocentesis or placental biopsy.

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Medical text written November 1991 by Contact a Family. Approved November 1991 by Professor M Patton, Professor of Medical Genetics, St Georges Hospital Medical School, London, UK and Dr J E Wraith, Consultant Paediatrician, Royal Manchester Children's Hospital, Manchester, UK. Last updated September 2003 by Contact a Family . Approved September 2003 by Professor I Young, Department of Clinical Genetics, Leicester Royal Infirmary, Leicester, UK.

 

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