Genome-Wide Noninvasive Prenatal Diagnosis of De Novo Mutations.

Abstract excerpt

Noninvasive prenatal diagnosis (NIPD) has become a common, safe, and effective procedure for detection of inherited diseases early in pregnancy. It is based on the analysis of fetal cell-free DNA (cffDNA) derived from the placenta, circulating in the maternal plasma. De novo mutations, although rare, cause a considerable number of dominant genetic disorders. Due to the sparse representation of fetal-derived...

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• Cell-Free Nucleic Acids
• Fetus
• Genetic Testing
• Genome
• Mutation
• Pregnancy