Genetic diagnosis and clinical evaluation of severe fetal akinesia syndrome

• DOI: 10.1002/pd.5809
• Publication Date: 2020-08-12T02:32:23Z
• Authors: Theresa Reischer; Sandra Liebmann‐R...; Dieter Bettelheim; Sukirthini Balend...; Berthold Streubel
• Keywords: Sanger sequencing; HRAS; Exome; Medical genetics

In this retrospective study, we describe the clinical course, ultrasound findings and genetic investigations of fetuses affected by fetal akinesia.We enrolled 22 eukaryotic 18 families, diagnosed with akinesia between 2008 2016 at Department Obstetrics Feto-Maternal Medicine Medical University Vienna. Routine evaluation included karyotyping chromosomal microarray analysis. Retrospectively, exome sequencing was performed in index case 11 if stored DNA available. Confirmation analyses diagnosis siblings were using Sanger sequencing.Whole identified pathogenic variants CNTN1, RYR1, NEB, GLDN, HRAS TNNT3 six cases families. three these confirmed respective sibling.The present study demonstrates a high diagnostic yield syndrome, especially family history is positive. Still, large part underlying cause remained unknown, whereas precise combination shows to be best tool find disease causing variants.