Article

Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem features

2024-08-26

Abstract excerpt

<title>Abstract</title> <p>In 30-40% of fetuses with structural defects, the causal variant remains undiagnosed after karyotype, chromosomal microarray and exome sequencing. This study presents the results of a reanalysis of unsolved prenatal ES (pES) and investigates how postnatal/postmortem phenotyping contributes to identify relevant variants. Prospective reanalysis of pES data was performed in undiagnosed fet...

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Literature Corpus work: acbb8c81-1499-52fa-bdb0-e58a1ee157c9
DOI: 10.21203/rs.3.rs-4682619/v1

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