Rapid prenatal diagnosis of skeletal dysplasia using medical trio exome sequencing: Benefit for prenatal counseling and pregnancy management
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DOI: 10.1002/pd.5653
Abstract: The aim of this study is to explore the utility of rapid medical trio exome sequencing (ES) for prenatal diagnosis using the skeletal dysplasia as an exemplar. read more here.
Keywords: exome sequencing; diagnosis; prenatal diagnosis; trio exome ... See more keywords
Parental motivations for and adaptation to trio‐exome sequencing in a prospective prenatal testing cohort: Beyond the diagnosis
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DOI: 10.1002/pd.6112
Abstract: To understand motivations for and parental interpretation of results from trio‐exome sequencing (ES) for fetal anomalies with a negative standard genetic diagnosis. read more here.
Keywords: diagnosis; trio exome; parental motivations; motivations adaptation ... See more keywords
A single center experience of prenatal parent‐fetus trio exome sequencing for pregnancies with congenital anomalies
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DOI: 10.1002/pd.6170
Abstract: To examine the diagnostic yield of trio exome sequencing in fetuses with multiple structural defects with no pathogenic findings in cytogenetic and microarray analyses. read more here.
Keywords: single center; center experience; trio exome; experience prenatal ... See more keywords
Novel compound heterozygous TTN variants as a cause of severe neonatal congenital contracture syndrome without cardiac involvement diagnosed with rapid trio exome sequencing
Sign Up to like & getrecommendations! Published in 2021 at "Neuromuscular Disorders"
DOI: 10.1016/j.nmd.2021.05.004
Abstract: This report focuses on a case of severe congenital myopathy with arthrogryposis without cardiac involvement due to compound heterozygous variants in the TTN gene. The proband presented with severe axial hypotonia, arthrogryposis and severe respiratory… read more here.
Keywords: trio exome; exome sequencing; compound heterozygous; without cardiac ... See more keywords