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Statistical Approach to Prenatal Zygosity Assessment Following a Decade of Molecular Aneuploidy Screening

Published online by Cambridge University Press:  21 February 2012

Sílvia Pires ,
António J. A. Nogueira ,
Odília Pinho ,
Tiago Delgado ,
Mário Sousa ,
Rosário Santos  and
Paula Jorge
Sílvia Pires
Affiliation:
Centre for Medical Genetics Doutor Jacinto Magalhães, National Health Institute Doutor Ricardo Jorge, Porto, Portugal.
António J. A. Nogueira
Affiliation:
CESAM & Department of Biology, University of Aveiro, Campus Universitário de Santiago, Aveiro, Portugal.
Odília Pinho
Affiliation:
Centre for Medical Genetics Doutor Jacinto Magalhães, National Health Institute Doutor Ricardo Jorge, Porto, Portugal.
Tiago Delgado
Affiliation:
Centre for Medical Genetics Doutor Jacinto Magalhães, National Health Institute Doutor Ricardo Jorge, Porto, Portugal.
Mário Sousa
Affiliation:
Department of Microscopy, Laboratory of Cell Biology, Biomedical Research Multidisciplinary Unit, Institute of Biomedical Sciences Abel Salazar, University of Porto, Porto, Portugal.
Rosário Santos
Affiliation:
Centre for Medical Genetics Doutor Jacinto Magalhães, National Health Institute Doutor Ricardo Jorge, Porto, Portugal.
Paula Jorge*
Affiliation:
Centre for Medical Genetics Doutor Jacinto Magalhães, National Health Institute Doutor Ricardo Jorge, Porto, Portugal. paula.jorge@insa.min-saude.pt
*
*ADDRESS FOR CORRESPONDENCE: Paula Jorge, Centre for Medical Genetics Doutor Jacinto Magalhães, National Health Institute Doutor Ricardo Jorge, Molecular Genetics Unit (UMO-P), Praça Pedro Nunes, 88, 4099-028 Porto, Portugal.

Abstract

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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%.

Keywords

twinsprenatal diagnosiszygosity determinationgenetic counsellingZygProb
Type
Articles
Information
Twin Research and Human Genetics , Volume 14 , Issue 3 , 01 June 2011 , pp. 221 - 227
Copyright
Copyright © Cambridge University Press 2011