Prenatal diagnosis for de novo mutations: Experience from a tertiary center over a 10-year period.
Ori EyalMichal BerkenstadtHaike Reznik-WolfHana PoranTomer Ziv-BaranLior GreenbaumHagit YonathElon PrasPublished in: Molecular genetics & genomic medicine (2019)
The large increase in the annual number of prenatal diagnoses performed due to a previous pregnancy with a de novo mutation reflects the growing understanding regarding the role of these mutations in the pathogenesis of genetic diseases.