title: Combined QF-PCR and MLPA molecular analysis of miscarriage products: an efficient and robust alternative to karyotype analysis.
abstract: OBJECTIVE
  To replace G-banded chromosome analysis for miscarriage products with a combined molecular approach: QF-PCR and MLPA, to increase efficiency, reduce costs, and improve the diagnostic success rate for these samples.
  
  
  METHODS
  A review of 10 years of karyotype results for miscarriages products indicated that 2.7% of nonmosaic chromosome imbalance would not be detected by the molecular approach. The molecular approach was validated on 117 samples in parallel with karyotype analysis; no discrepancies were detected. The molecular approach was implemented in September 2007, and in the first 18 months 500 samples were processed.
  
  
  RESULTS
  In 500 samples, 117 samples (23%) were abnormal. Of these abnormalities, 64% were trisomies, 12% triploid, 11% monosomy X and 13% other abnormalities. When compared to karyotype analysis, the success rate was higher (95% cf 70%) and the reporting time was lower (88% within 28 days cf 79%). In addition, efficiency was higher as labour-intensive cell culture and karyotyping were replaced by batch testing and automated analysis.
  
  
  CONCLUSIONS
  This molecular approach is less labour-intensive, allows a higher sample throughput and has a higher success rate than karyotype analysis; it is therefore an efficient and cost-effective diagnostic testing strategy for miscarriage products.
authors.affiliation: Cytogenetics Department, GSTS, Guy's and St Thomas' Foundation Hospital Trust, London, UK. celia.donaghue@gsts.com
authors.forename: Celia
authors.initials: C
authors.lastname: Donaghue
authors.forename: Kathy
authors.initials: K
authors.lastname: Mann
authors.forename: Zoe
authors.initials: Z
authors.lastname: Docherty
authors.forename: Roberto
authors.initials: R
authors.lastname: Mazzaschi
authors.forename: Claudine
authors.initials: C
authors.lastname: Fear
authors.forename: Caroline
authors.initials: C
authors.lastname: Ogilvie
mesh_terms: D000022:Abortion, Spontaneous / Q000175:diagnosis*; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D007621:Karyotyping; D016133:Polymerase Chain Reaction / Q000379:methods*; D012189:Retrospective Studies