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 Statistical Approach to Prenatal Zygosity Assessment Following a Decade of Molecular Aneuploidy Screening
Please use this identifier to cite or link to this item http://hdl.handle.net/10773/5045

title: Statistical Approach to Prenatal Zygosity Assessment Following a Decade of Molecular Aneuploidy Screening
authors: Pires, S.
Nogueira, António
Pinho, O.
Delgado, T.
Sousa, M.
Santos, R.
Jorge, P.
keywords: Twins
Prenatal diagnosis
Zygosity determination
Genetic counselling
issue date: 2011
publisher: Australian Academic Press
abstract: In twin pregnancy studies, molecular genetic techniques have rarely been used to determine zygosity, despite their known precision and accuracy. The present work aimed to assess the power of discrimination in zygosity assessment, using a set of microsatellite markers that were routinely used for aneuploidy screening by multiplex-PCR in a prenatal context. Rapid aneuploidy screening using a group of 20 microsatellite markers (STRs) located on chromosomes 13, 18, 21 and X has been performed in our lab for over 10 years, with a total of approximately 1,500 samples studied to date. A retrospective analysis of the 257 prenatal samples from multiple pregnancies was carried out. A subset of 14 cases presenting theoretical monozygosity were re-evaluated by the use of biostatistics tools accessed via the ZygProb website. Further monozygosity determination relative to dizygosity was calculated, given an estimated overall error value of 0.093%. The results show that monozygosity had been correctly determined in all our previously studied twins. This work demonstrates that accurate zygosity assessment can be achieved with the same STRs applied in aneuploidy screening with a high power of discrimination and a matching probability of over 99.999999%.
URI: http://hdl.handle.net/10773/5045
ISSN: 1832-4274
source: Twin Research and Human Genetics
appears in collectionsCESAM - Artigos
BIO - Artigos

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