Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities.

@article{Drury2015ExomeSF,
  title={Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities.},
  author={Suzanne Drury and Hywel J Williams and Natalie Trump and Christopher Boustred and Nicholas J. Lench and Richard H. Scott and Lyn S. Chitty},
  journal={Prenatal diagnosis},
  year={2015},
  volume={35 10},
  pages={
          1010-7
        }
}
OBJECTIVE In the absence of aneuploidy or other pathogenic cytogenetic abnormality, fetuses with increased nuchal translucency (NT ≥ 3.5 mm) and/or other sonographic abnormalities have a greater incidence of genetic syndromes, but defining the underlying pathology can be challenging. Here, we investigate the value of whole exome sequencing in fetuses with sonographic abnormalities but normal microarray analysis. METHOD Whole exome sequencing was performed on DNA extracted from chorionic villi… CONTINUE READING

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