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Some caveats in PCR-based prenatal diagnosis on direct amniotic fluid versus cultured amniocytes

1999; Wiley; Volume: 19; Issue: 2 Linguagem: Inglês

10.1002/(sici)1097-0223(199902)19

1097-0223

Robert Frederickson, HungShu Wang, Linda Surh,

Neurogenetic and Muscular Disorders Research

Prenatal DiagnosisVolume 19, Issue 2 p. 113-117 Original PaperFree Access Some caveats in PCR-based prenatal diagnosis on direct amniotic fluid versus cultured amniocytes Robert M. Frederickson, Robert M. Frederickson Department of Clinical Chemistry, University of Ottawa, Ontario, CanadaSearch for more papers by this authorHungShu Wang, HungShu Wang Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, CanadaSearch for more papers by this authorLinda C. Surh, Corresponding Author Linda C. Surh Department of Pediatrics, University of Ottawa, Ontario, CanadaDepartment of Pediatrics, Children's Hospital of Eastern Ontario Research Institute, Room 229, 401 Smyth Road, Ottawa, Ontario, Canada, K1H 8L1.Search for more papers by this author Robert M. Frederickson, Robert M. Frederickson Department of Clinical Chemistry, University of Ottawa, Ontario, CanadaSearch for more papers by this authorHungShu Wang, HungShu Wang Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, CanadaSearch for more papers by this authorLinda C. Surh, Corresponding Author Linda C. Surh Department of Pediatrics, University of Ottawa, Ontario, CanadaDepartment of Pediatrics, Children's Hospital of Eastern Ontario Research Institute, Room 229, 401 Smyth Road, Ottawa, Ontario, Canada, K1H 8L1.Search for more papers by this author First published: 14 April 1999 https://doi.org/10.1002/(SICI)1097-0223(199902)19:2 3.0.CO;2-JCitations: 16AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Abstract The polymerase chain reaction (PCR) offers new advances in prenatal genetic diagnosis particularly with limitations in amount of sample, turn-around time of results, and costs. However, maternal contamination is a concern in any fetal sampling, and even more so with PCR given its potential to detect at the level of a few cells. We report our experience with 53 matched pairs of direct and cultured amniocytes using three independent DNA markers amplified by PCR within the setting of a service molecular diagnostic laboratory. Despite 15/53 (30 per cent) of the amniotic fluids showing visible red blood cells prior to culturing, only 5/53 (9 per cent) showed trace PCR contamination. Of note, this was found on only one marker with a particularly robust PCR product of small size and at such a low level that it was unlikely to have resulted in ambiguous interpretation. One of the cultures also showed a similar type of contamination with this same marker. However, in addition, there were 2/53 (3·7 per cent) cultures which showed substantial maternal contamination detected by all three PCR markers, but not visualized on the originating direct samples. 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