title: Analysis of tissue from products of conception and perinatal losses using QF-PCR and microarray: A three-year retrospective study resulting in an efficient protocol.
abstract: OBJECTIVE
  To evaluate the performance of a laboratory protocol for direct genetic analysis performed on tissues obtained from miscarriages, stillbirth and postnatal death.
  
  
  METHODS
  Samples were collected between July 1st, 2011 and June 30th, 2014. QF-PCR analysis was the initial test followed by aCGH analysis performed on the normal QF-PCR specimens.
  
  
  RESULTS
  Of the 1195 submitted specimens, a total of 1071 samples were confirmed as true fetal. The failure rate was 1.4%. Of those, 30.8% yielded abnormal results. Of the latter, 57.6% had abnormal QF-PCR and 42.4% had abnormal microarray result. Autosomal trisomies were detected in 61.2%, triploidy in 7.6%, monosomy X in 9.1%, sex-chromosome aneuploidy (apart from monosomy X) in 1.5%, molar pregnancies in 5.8% and copy number variants in 14.2% including microdeletions/microduplications and cryptic unbalanced rearrangements. The highest diagnostic yield was observed in the 1st trimester specimens at 67.6%. We confirmed that maternal age correlates with the likelihood of autosomal trisomies but not with triploidy, sex chromosome aneuploidies, molar pregnancy, or CNVs.
  
  
  CONCLUSIONS
  An efficient laboratory protocol, based on QF-PCR and aCGH of uncultured cells has replaced standard cytogenetic analysis in testing of tissue from all pregnancy losses in our center and resulted in reduced test failure rate and increased diagnostic yield.
authors.affiliation: Department of Obstetrics and Gynecology, Division of Maternal Fetal Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.
authors.forename: K
authors.initials: K
authors.lastname: Wou
authors.affiliation: Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.
authors.forename: Y
authors.initials: Y
authors.lastname: Hyun
authors.affiliation: Department of Obstetrics and Gynecology, Division of Maternal Fetal Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada; The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada; Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
authors.forename: D
authors.initials: D
authors.lastname: Chitayat
authors.affiliation: Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.
authors.forename: M
authors.initials: M
authors.lastname: Vlasschaert
authors.affiliation: Department of Obstetrics and Gynecology, Division of Maternal Fetal Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada; The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada; Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
authors.forename: K
authors.initials: K
authors.lastname: Chong
authors.affiliation: Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada; Department of Internal Medicine, Division of Clinical and Metabolic Genetics, University Health Network, Toronto, Ontario, Canada.
authors.forename: S
authors.initials: S
authors.lastname: Wasim
authors.affiliation: Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.
authors.forename: S
authors.initials: S
authors.lastname: Keating
authors.affiliation: Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.
authors.forename: P
authors.initials: P
authors.lastname: Shannon
authors.affiliation: Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada. Electronic address: ekolomietz@mtsinai.on.ca.
authors.forename: E
authors.initials: E
authors.lastname: Kolomietz
mesh_terms: D000328:Adult; D055028:Comparative Genomic Hybridization; D005260:Female; D005865:Gestational Age; D006801:Humans; D008297:Male; D008423:Maternal Age; D008875:Middle Aged; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods* / Q000592:standards; D016133:Polymerase Chain Reaction / Q000379:methods* / Q000592:standards; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods* / Q000592:standards; D012189:Retrospective Studies; D057188:Workflow; D055815:Young Adult
keywords: Array CGH; Diagnostic yield; Perinatal tissue; QF-PCR