Journal article

A minimum estimate of the prevalence of 22q11 deletion syndrome and other chromosome abnormalities in a combined prenatal and postnatal cohort

Lisa Hui, Alice Poulton, Eliza Kluckow, Anthea Lindquist, Briohny Hutchinson, Mark D Pertile, Leonard Bonacquisto, Lucy Gugasyan, Abhijit Kulkarni, James Harraway, Amanda Howden, Richard Mccoy, Fabricio Da Silva Costa, Melody Menezes, Ricardo Palma-Dias, Debbie Nisbet, Nicole Martin, Michael Bethune, Zeffie Poulakis, Jane Halliday



STUDY QUESTION: What is the frequency of major chromosome abnormalities in a population-based diagnostic data set of genomic tests performed on miscarriage, fetal and infant samples in a state with >73 000 annual births? SUMMARY ANSWER: The overall frequency of major chromosome abnormalities in the entire cohort was 28.2% (2493/8826), with a significant decrease in the detection of major chromosome abnormalities with later developmental stage, from 50.9% to 21.3% to 15.6% of tests in the miscarriage, prenatal and postnatal cohorts, respectively. WHAT IS KNOWN ALREADY: Over the past decade, technological advances have revolutionized genomic testing at every stage of reproduction. Chromosomal ..

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Awarded by National Health and Medical Research Council

Funding Acknowledgements

Salary support during the conduct of this study was provided by the following research fellowships: National Health and Medical Research Council Early Career Fellowship (1105603 to L.H.); National Health and Medical Research Council Senior Research Fellowship (10121252 to J.H.); Mercy Perinatal Research Fellowship (A.L.). Infrastructure support was provided by the Murdoch Children's Research Institute.