Document Detail

Implementation and experience of an alternative QF-PCR and MLPA diagnostic strategy to detect chromosomal abnormalities in fetal and neonatal pathology samples.
MedLine Citation:
PMID:  21875355     Owner:  NLM     Status:  Publisher    
Abstract Chromosomal abnormalities are a significant cause of pregnancy loss. Solid tissue fetal and neonatal pathology samples are routinely analysed by karyotype analysis following cell culture. However, there is a high failure rate and this approach is expensive and labour intensive. We have therefore evaluated a new molecular strategy involving QF-PCR and subtelomere MLPA analysis. A retrospective audit showed that less than 4% of abnormal cases may not be detected by this molecular strategy. We validated this strategy in parallel with cytogenetic analysis on 110 patient samples which included cases of fetal loss, still birth, neonatal death, termination of pregnancy, recurrent miscarriage, and SUDI. This validation showed that 55, of the 57 samples that gave a result for both strategies, were concordant. During the first year of diagnostic testing, we analysed 382 samples by the molecular strategy. A 16% abnormality rate was observed. These included trisomies 13, 18, 21, monosomy X, and triploidy detected by QF-PCR (77%), and 23% were other trisomies and subtelomere imbalances detected by MLPA. This strategy had a 92% success rate in contrast to the 20-30% failure rate observed with cell culture and cytogenetic analysis. We conclude that QF-PCR and subtelomere MLPA is a suitable strategy for analysis of the majority of fetal and neonatal pathology samples, with many advantages over conventional cytogenetic analysis. Key words: Fetus, karyotype, miscarriage, MLPA, QF-PCR.
Louise S McClelland; Stephanie Kate Allen; Simon A Larkins; Susan J Hamilton; Tamas Marton; Phillip M Cox; Beata Hargitai; Elizabeth H Johnston; Claire Morgan; Graham Hardy
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-8-29
Journal Detail:
Title:  Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society     Volume:  -     ISSN:  1093-5266     ISO Abbreviation:  -     Publication Date:  2011 Aug 
Date Detail:
Created Date:  2011-8-30     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9809673     Medline TA:  Pediatr Dev Pathol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
1 Birmingham Women's Hospital.
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