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

L Hui; A Poulton; E Kluckow; A Lindquist; B Hutchinson; MD Pertile; L Bonacquisto; L Gugasyan; A Kulkarni; J Harraway; A Howden; R McCoy; FDS Costa; M Menezes; R Palma-Dias; D Nisbet; N Martin; M Bethune; Z Poulakis; J Halliday

Journal article

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

L Hui, A Poulton, E Kluckow, A Lindquist, B Hutchinson, MD Pertile, L Bonacquisto, L Gugasyan, A Kulkarni, J Harraway, A Howden, R McCoy, FDS Costa, M Menezes, R Palma-Dias, D Nisbet, N Martin, M Bethune, Z Poulakis, J Halliday

Human Reproduction | OXFORD UNIV PRESS | Published : 2020

DOI: 10.1093/humrep/dez286

Abstract

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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University of Melbourne Researchers

Lisa Hui Author

Anthea Lindquist Author

Melody Menezes Author

Ricardo Palma-Dias Author

Related Projects (1)

TRANSLATING ADVANCES IN CELL-FREE FETAL NUCLEIC ACIDS INTO BETTER PERINATAL CARE

My overall aim is to translate advances in biotechnology into better care for pregnant women. My first aim is to study brain development by ..

Grants

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.