Patau syndrome
Inheritance patterns and prenatal diagnosis
Inheritance patterns
Most cases represent isolated events within a family. However a balanced translocation in a parent can give rise to an unbalanced translocation in a child. When parents have had one child with full trisomy 13, the risk that a future child will be affected is approximately 1 in 200. If Patau syndrome has been caused by an unbalanced translocation or any other unusual rearrangement, then it is very important that parents seek professional guidance from a clinical geneticist to determine if there is a significant risk of recurrence in a future pregnancy.
Prenatal diagnosis
Chorionic villus sampling at ten to twelve weeks or amniocentesis at sixteen weeks. Parents who have had a baby with trisomy 13 are usually offered a test such as chorionic villus sampling or amniocentesis in all future pregnancies even though the risk of recurrence is relatively low (1 in 200). Alternatively, non-invasive screening based on nuchal translucency and a maternal blood test may be offered.
What are the causes?
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