A decade of change - lessons learned from prenatal diagnostics in Central Denmark region in 2008-2018.

Acta obstetricia et gynecologica Scandinavica(2023)

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摘要
Chromosomal microarray identified 5.3% trisomies and 3.4% copy number variants, thereby increased the diagnostic yield by more than 64% compared with karyotype only and it also more than halved the turnaround time. Some preliminary concerns proved real, eg prenatal counseling complexity, but these have been resolved over time in a clinical path with expert consultations.
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关键词
chromosomal aberrations, chromosomal microarray, clinical laboratory techniques, copy number variation, interdisciplinary communication, prenatal diagnosis, prenatal screening
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