title: Molecular and cytogenetic analysis in stillbirth: results from 481 consecutive cases.
abstract: BACKGROUND
  The underlying causes of stillbirth are heterogeneous and in many cases unexplained. Our aim was to conclude clinical results from karyotype and quantitative fluorescence-polymerase chain reaction (QF-PCR) analysis of all stillbirths occurring in Stockholm County between 2008 and 2012. By screening a subset of cases, we aimed to study the possible benefits of chromosomal microarray (CMA) in the analysis of the etiology of stillbirth.
  
  
  METHODS
  During 2008-2012, 481 stillbirths in Stockholm County were investigated according to a clinical protocol including karyotype or QF-PCR analysis. CMA screening was performed on a subset of 90 cases, corresponding to all stillbirths from 2010 without a genetic diagnosis.
  
  
  RESULTS
  Chromosomal aberrations were detected by karyotype or QF-PCR analysis in 7.5% of the stillbirths. CMA analysis additionally identified two known syndromes, one aberration disrupting a known disease gene, and 26 variants of unknown significance. Furthermore, CMA had a significantly higher success rate than karyotyping (100 vs. 80%, p < 0.001).
  
  
  CONCLUSIONS
  In the analysis of stillbirth, conventional karyotyping is prone to failure, and QF-PCR is a useful complement. We show that CMA has a higher success rate and aberration detection frequency than these methods, and conclude that CMA is a valuable tool for identification of chromosomal aberrations in stillbirth.
authors: Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, CMM L8:02, Karolinska University Hospital, Stockholm, Sweden.
authors: Ellika
authors: E
authors: Sahlin
authors: Peter
authors: P
authors: Gustavsson
authors: Agne
authors: A
authors: Liedén
authors: Nikos
authors: N
authors: Papadogiannakis
authors: Linus
authors: L
authors: Bjäreborn
authors: Karin
authors: K
authors: Pettersson
authors: Magnus
authors: M
authors: Nordenskjöld
authors: Erik
authors: E
authors: Iwarsson
mesh_terms: D000328:Adult; D002869:Chromosome Aberrations; D055028:Comparative Genomic Hybridization; D005260:Female; D047109:Fetal Development / Q000235:genetics; D006801:Humans; D059785:Karyotype; D008297:Male; D008423:Maternal Age; D011247:Pregnancy; D012189:Retrospective Studies; D012744:Sex Ratio; D050497:Stillbirth / Q000453:epidemiology / Q000235:genetics*; D013548:Sweden