Characteristics of Genetic Variations Causing Structural Foetal Malformations, Using Deep Phenotyping and Genotyping

Project Details


The project aim is to identify genetic cause of rare diseases with multiple anomalies manifesting in prenatal period that leads to stillbirth, miscarriage or medical termination of pregnancy among patients consulted in Clinic of Medical genetics and Prenatal Diagnostics, Children’s Clinical University hospital analysing foetal phenotype and performing chromosomal microarrays and whole exome sequencing in trios (affected foetus and parents).
Effective start/end date1/04/1931/03/20


  • Fetal structural anomalies
  • next generation sequencing
  • deep genotyping
  • deep phenotyping
  • genetic consultation
  • reproductive prognosis

Field of Science

  • 3.2 Clinical medicine

Smart Specialization Area

  • Biomedicine, medical technologies and biotechnology


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