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Genetic and Rare Diseases Information Center (GARD)

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Polycystic kidney disease


* Not a rare disease
Other Names for this Disease
  • PKD
  • Polycystic kidneys
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Your Question

Can Polycystic Kidney Diseases be diagnosed in pregnancy?

Our Answer

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Can polycystic kidney diseases be diagnosed in pregnancy?

It is possible, but not commonly done. Prenatal testing for pregnancies at increased risk (e.g. where there is an affected family member) is possible.[1][2] Genetic testing is performed by either direct gene mutation analysis and/or linkage analysis. Mutation analysis looks to identify the particular gene (PKD1, PKD2 or PKHD1) changes that cause polycystic kidney disease. A linkage analysis is useful if the mutation analysis does not provide enough conclusive information. With a linkage analysis, blood tests from multiple family members are taken to track the chromosome that carries the disease-causing gene through two or more generations.
Last updated: 4/22/2010