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dc.contributor.authorHolland, Olivia
dc.contributor.authorKroneis, Thomas
dc.contributor.authorEl-Heliebi, Amin
dc.contributor.authorMcDowell-Hook, Maria
dc.contributor.authorStone, Peter
dc.contributor.authorSedlmayr, Peter
dc.contributor.authorChamley, Lawrence
dc.date.accessioned2019-02-28T06:07:36Z
dc.date.available2019-02-28T06:07:36Z
dc.date.issued2017
dc.identifier.issn1015-3837
dc.identifier.doi10.1159/000445112
dc.identifier.urihttp://hdl.handle.net/10072/142406
dc.description.abstractObjectives: A key problem in prenatal screening using extra-embryonic cells is the feasibility of extracting usable DNA from a small number of cells. Syncytial nuclear aggregates (SNAs) are multinucleated structures shed from the placenta. This study assesses the potential of SNAs as a source of fetal DNA for the detection of genetic abnormalities. Methods: SNAs were collected in vitro. Whole-genome amplification was used to amplify DNA from single SNAs, and DNA quality and quantity was assessed by spectrophotometry and PCR. Confocal microscopy was used to count nuclei within SNAs, determine metabolic activity and investigate DNA damage. Fetal sex and chromosomal/genetic abnormalities were investigated with array-comparative genomic hybridization (aCGH). Results: DNA was amplified from 81% of the individual SNAs. A mean of 61 ± 43 nuclei were found per SNA. DNA strand breaks were found in 76% of the SNAs. Seventy-five percent of SNAs yielded whole-genome-amplified DNA of sufficient quality for aCGH after storage and shipping. Individual SNAs from the same pregnancy reliably gave the same chromosomal profile, and fetal sex and trisomies could be detected. A microdeletion was detected in one pregnancy. Conclusion: SNAs could provide a source of extra-embryonic DNA for the prenatal screening/diagnosis of fetal sex and chromosomal and sub-chromosomal genetic abnormalities.
dc.description.peerreviewedYes
dc.languageEnglish
dc.language.isoeng
dc.publisherS. Karger AG
dc.relation.ispartofpagefrom1
dc.relation.ispartofpageto9
dc.relation.ispartofjournalFetal Diagnosis and Therapy
dc.subject.fieldofresearchReproductive medicine not elsewhere classified
dc.subject.fieldofresearchcode321599
dc.titleDetection of Fetal Sex, Aneuploidy and a Microdeletion from Single Placental Syncytial Nuclear Aggregates
dc.typeJournal article
dc.type.descriptionC1 - Articles
dc.type.codeC - Journal Articles
gro.facultyGriffith Health, School of Medical Science
gro.description.notepublicThis publication has been entered into Griffith Research Online as an Advanced Online Version.
gro.hasfulltextNo Full Text
gro.griffith.authorHolland, Olivia J.


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