Electronic Resource
A minimum estimate of the prevalence of 22q11 deletion syndrome and other chromosome abnormalities in a combined prenatal and postnatal cohort.
| العنوان: | A minimum estimate of the prevalence of 22q11 deletion syndrome and other chromosome abnormalities in a combined prenatal and postnatal cohort. |
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| المؤلفون: | Martin N., Howden A., McCoy R., Costa F.D.S., Menezes M., Palma-Dias R., Nisbet D., Bethune M., Halliday J., Poulakis Z., Hui L., Poulton A., Kluckow E., Lindquist A., Hutchinson B., Pertile M.D., Bonacquisto L., Gugasyan L., Kulkarni A., Harraway J. |
| بيانات النشر: | Oxford University Press United Kingdom 2020-05-16 |
| نوع الوثيقة: | Electronic Resource |
| مستخلص: | 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 microarrays (CMAs) are now the gold standard of chromosome assessment in prenatal diagnosis and pediatrics. STUDY DESIGN, SIZE, DURATION: A population-based cohort study including all chromosome analysis was performed in the Australian state of Victoria during a 24-month period from January 2015 to December 2016. All samples obtained via invasive prenatal diagnosis and postnatal samples from pregnancy tissue and infants <=12 months of age were included. PARTICIPANTS/MATERIALS, SETTING, METHODS: A research collaboration of screening and diagnostic units in the Australian state of Victoria was formed (the Perinatal Record Linkage collaboration), capturing all instances of prenatal and postnatal chromosome testing performed in the state. Victoria has over 73 000 births per annum and a median maternal age of 31.5 years. We analyzed our population-based diagnostic data set for (i) chromosome assessment of miscarriage, prenatal diagnosis and postnatal samples; (ii) testing indications and diagnostic yields for each of these cohorts; (iii) and the combined prenatal/infant prevalence of 22q11.2 deletion syndrome (DS) as a proportion of all births >=20 weeks gestation. MAIN RESULTS AND THE ROLE OF CHANCE: During the 24-month study period, a total of 8826 chromosomal analyses were performe |
| مصطلحات الفهرس: | monosomy X/di [Diagnosis], perinatal period, polyploidy, population research, prenatal diagnosis, prenatal period, prevalence, sex chromosome aberration/cn [Congenital Disorder], sex chromosome aberration/di [Diagnosis], spontaneous abortion, stillbirth, trisomy/cn [Congenital Disorder], trisomy/di [Diagnosis], trisomy 13/cn [Congenital Disorder], trisomy 13/di [Diagnosis], trisomy 16/cn [Congenital Disorder], trisomy 16/di [Diagnosis], trisomy 18/cn [Congenital Disorder], trisomy 18/di [Diagnosis], trisomy 21/cn [Congenital Disorder], trisomy 21/di [Diagnosis], DNA/ec [Endogenous Compound], trisomy 15/cn [Congenital Disorder], trisomy 15/di [Diagnosis], trisomy 22/cn [Congenital Disorder], trisomy 22/di [Diagnosis], article, 47,XXY syndrome/cn [Congenital Disorder], 47,XXY syndrome/di [Diagnosis], adult, amniocentesis, chorion villus sampling, chromosome aberration/cn [Congenital Disorder], chromosome aberration/di [Diagnosis], chromosome analysis, chromosome deletion 22q11/cn [Congenital Disorder], chromosome deletion 22q11/di [Diagnosis], cohort analysis, congenital malformation/cn [Congenital Disorder], controlled study, copy number variation, developmental stage, diagnostic value, female, fetus disease/cn [Congenital Disorder], fetus disease/di [Diagnosis], fetus echography, first trimester pregnancy, gene frequency, genetic screening, gestational age, heart disease/cn [Congenital Disorder], heart disease/di [Diagnosis], human, infant, live birth, major clinical study, maternal age, monosomy X/cn [Congenital Disorder], Article |
| URL: | Human Reproduction Click here for full text options LibKey Link |
| الاتاحة: | Open access content. Open access content Copyright 2020 Elsevier B.V., All rights reserved. |
| Other Numbers: | AUSHL oai:repository.monashhealth.org:1/29241 Human Reproduction. 35 (3) (pp 694-704), 2020. Date of Publication: 27 Mar 2020. 0268-1161 https://repository.monashhealth.org/monashhealthjspui/handle/1/29241 32207823 [http://www.ncbi.nlm.nih.gov/pubmed/?term=32207823] 631659690 (Hui, Poulton, Kluckow, Lindquist, Halliday) Reproductive Epidemiology Group, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia (Hui, Palma-Dias) Department of Obstetrics and Gynaecology, University of Melbourne, Parkville, VIC 3052, Australia (Hui, Lindquist, Hutchinson) Mercy Perinatal, Mercy Hospital for Women, Heidelberg, VIC 3084, Australia (Pertile, Bonacquisto) Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia (Pertile, Poulakis, Halliday) Department of Paediatrics, University of Melbourne, Parkville, VIC 3052, Australia (Gugasyan, Kulkarni) Cytogenetics Monash Pathology, Monash Medical Centre, Clayton, VIC 3168, Australia (Harraway) Department of Cytogenetics/Molecular Pathology, Sullivan Nicolaides Pathology, Bowen Hills, QLD 4006, Australia (Howden) Cytogenetics, Melbourne Pathology, Collingwood, VIC 3066, Australia (McCoy) Molecular Genetics, Australian Clinical Labs, Clayton, VIC 3168, Australia (Costa) Department of Gynecology and Obstetrics, Ribeirao Preto Medical School, University of Sao Paulo, Ribeirao Preto, Sao Paulo 14049-900, Brazil (Costa) Department of Obstetrics and Gynaecology, Monash University, Clayton, VIC 3168, Australia (Menezes) Monash Ultrasound for Women, Richmond, VIC 3121, Australia (Palma-Dias, Nisbet) Women's Ultrasound Melbourne, East Melbourne, VIC 3002, Australia (Palma-Dias, Nisbet) Ultrasound Services, Royal Women's Hospital, Parkville, VIC 3052, Australia (Nisbet) Department of Medicine and Radiology, University of Melbourne, Parkville, VIC 3052, Australia (Martin) Virtus Diagnostics and Pathology Services, Spring Hill, QLD 4000, Australia (Bethune) Specialist Women's Ultrasound, Box Hill, VIC 3128, Australia (Poulakis) Victorian Infant Hearing Screening Program, Centre for Community Child Health, Royal Children's Hospital, Parkville, VIC 3052, Australia (Poulakis) Prevention Innovation Group, Population Health, Murdoch Children's Research Institu Poulton A.; alice.poulton@mcri.edu.au Kluckow E.; ekluckow@student.unimelb.edu.au Hui L.; lisa.hui@unimelb.edu.au Lindquist A.; aclin123@gmail.com Hutchinson B.; briohnyhutchinson@yahoo.com.au Bonacquisto L.; leonard.bonacquisto@vcgs.org.au Pertile M.D.; mark.pertile@vcgs.org.au Gugasyan L.; Lucy.Gugasyan@monashhealth.org Kulkarni A.; Abhijit.Kulkarni@monashhealth.org Harraway J.; James_Harraway@snp.com.au Howden A.; Amanda.Howden@mps.com.au McCoy R.; Richard.Mccoy@gribbles.com.au Costa F.D.S.; fabriciouece@hotmail.com Menezes M.; mmenezes@monashultrasound.com.au Palma-Dias R.; Ricardo.Palma-Dias@thewomens.org.au Nisbet D.; Debbie.Nisbet@thewomens.org.au Martin N.; nicole.martin@virtusdiagnostics.com.au Bethune M.; michael@swus.com.au Poulakis Z.; Zeffie.Poulakis@rch.org.au 1308883509 |
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| رقم الانضمام: | edsoai.on1308883509 |
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