The overall objective is to uncover genetic causes to unresolved recurrent intrauterine fetal death (IUFD) and neurodevelopmental disorders (NDD) using the advent of next-generation sequencing, specifically whole exome sequencing (WES) whole genome sequencing (WGS) and RNA sequencing.
The specific aims of the study are to:
• Identify genetic causes to unresolved recurrent IUFD and NDD.
• Investigate gene expression in a zebra fish model of NDD by RNA sequencing.
• Provide guidance for subsequent pregnancies, improved diagnostics and treatment of IUFD and NDD and finally implementation in the clinical setting.
• Provide increased knowledge of embryogenesis and fundamental developmental processes.
• Building a data analysis pipeline and reference database for use in research combined with clinical genetic testing.