Preference for secondary findings in prenatal and pediatric exome sequencing.
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DOI: 10.1002/pd.5973
Abstract: OBJECTIVE We aimed to determine the frequency of accepting secondary findings in families underoing exome sequencing in prenatal and pediatric settings. METHODS This was a secondary analysis of prospectively enrolled patients undergoing trio exome sequencing… read more here.
Keywords: findings prenatal; exome sequencing; prenatal pediatric; secondary findings ... See more keywords
Ultrasonographic findings and prenatal diagnosis of Jacobsen syndrome
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DOI: 10.1097/md.0000000000018695
Abstract: Abstract Rationale: Jacobsen syndrome (JBS) is a rare chromosomal disorder with variable phenotypic expressivity, which is usually diagnosed in infancy and childhood based on clinical examination and hematological and cytogenetic findings. Prenatal diagnosis and fetal… read more here.
Keywords: diagnosis; prenatal diagnosis; jacobsen syndrome; ultrasonographic findings ... See more keywords