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Developmental disorders affect approximately 7% of offspring with about 4.5% presenting congenital malformations and about 2.4% featuring intellectual disability (Rauch et al., 2012; Rydberg and Tunon, 2017). Both, structural abnormalities and intellectual disability may occur as isolated traits or combined as signs of a complex disorder. At least 2% of the European-derived general population suffer from one of more than 7000 rare genetic disorders, which may affect single organ systems or show pleiotropic effects with a variety of clinical features (Boycott et al., 2017).
The identification of a definite genetic diagnosis commonly enables a reliable prognosis for the fetus and thus informed management of the pregnancy as well as further reproductive choices, which in Switzerland since 1st of September 2017 may also include preimplantation diagnostics. Moreover, an increasing number of couples would like to perform extended preconception carrier screening for inherited severe childhood disorders even before planning a pregnancy.
While the increasing availability and reliability of next generation sequencing would provide the technical prerequisite for expanded genetic testing, implementation into clinical practice is hampered by the large amount of variants of unknown significance detected by such untargeted screening approaches (Starita et al., 2017).
The aim of this project is to improve reproductive genetic testing by further exploring the genetic landscape and variant pathogenicity of development disorders.
The project is coordinated by Anita Rauch, director of the Institute of Medical Genetics of the University of Zurich and performed in cooperation with Ruxandra Bachmann-Gagescu, assistant professor at the same institute, Tilo Burkhardt, attending physician in the Division of Obstetrics at the University Hospital Zurich, and Martin Müller, assistant professor at the Department of Molecular Life Sciences at the University of Zurich.
