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Article

Non-invasive prenatal testing of pregnancies at risk for phenylketonuria

20 Jan 2018

Abstract excerpt

Background Phenylketonuria (PKU) is a common metabolic disorder caused predominately by mutations in the phenylalanine hydroxylase (PAH) gene. The aim of the study was to design and validate the performance of a non-invasive prenatal test (NIPT) for PKU using circulating single molecule amplification and resequencing technology (cSMART). Methods A total of 18 couples at genetic risk for having a child with PKU...

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PMID: 29353259
DOI: 10.1136/archdischild-2017-313929

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