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Down syndrome with Heart Defect
Inheritance patterns and prenatal diagnosis
Inheritance patterns
Most cases of Down syndrome are sporadic but there is a small risk of recurrence in further pregnancies. The incidence of Down syndrome is related to maternal age. The older the mother the higher the risk of an affected child, although it is possible for a mother of any age to have a baby with Down syndrome.
However, in a minority (thre to four per cent) 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 thirty-seven 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 syndrome.
Prenatal diagnosis
Amniocentesis usually at sixteen weeks but results may not be available until twenty weeks. Chorionic villus sampling usually available at ten to twelve weeks. Fetal heart scans should be perestablished in all cases where Down syndrome is diagnosed prenatally.
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