Prenatal diagnosis and socioeconomic status in the non-invasive prenatal testing era: A population-based study

被引:40
作者
Hui, Lisa [1 ,2 ,3 ,4 ]
Barclay, Jenna [1 ]
Poulton, Alice [1 ]
Hutchinson, Briohny [1 ,2 ]
Halliday, Jane L. [1 ,5 ]
机构
[1] Royal Childrens Hosp, Murdoch Childrens Res Inst, Publ Hlth Genet, Melbourne, Vic, Australia
[2] Mercy Hosp Women, Mercy Perinatal, Melbourne, Vic, Australia
[3] Univ Melbourne, Dept Obstet & Gynaecol, Melbourne, Vic, Australia
[4] Northern Hosp, Dept Obstet & Gynaecol, Melbourne, Vic, Australia
[5] Univ Melbourne, Dept Paediat, Melbourne, Vic, Australia
基金
英国医学研究理事会;
关键词
congenital abnormalities; Down syndrome; genetic testing; prenatal diagnosis; social class; CELL-FREE DNA; DOWN-SYNDROME; FETAL ANEUPLOIDY; METAANALYSIS; IMPACT; IMPLEMENTATION; PERFORMANCE; CHALLENGES; TRISOMY-21; EXPERIENCE;
D O I
10.1111/ajo.12778
中图分类号
R71 [妇产科学];
学科分类号
100211 ;
摘要
BackgroundAdvances in technology can bring great benefits to human health, but their implementation may be influenced by socioeconomic factors, particularly in the field of prenatal screening for Down syndrome. AimTo analyse screening test indications for, and diagnostic yield of, invasive prenatal diagnostic testing (PNDx) according to socioeconomic status. MethodsRetrospective analysis of population-based data on PNDx and karyotype results for 2014-2015 in the Australian state of Victoria. Women having PNDx<25weeks due to combined first trimester screening (CFTS), second trimester serum screening (STSS), or noninvasive prenatal testing (NIPT) results were included. PNDx data were analysed by indication and maternal Index of Relative Socio-economic Advantage and Disadvantage (IRSAD), the latter determined by postcode. ResultsThere were 145206 births in 2014-2015; 1906 women underwent PNDx for the indication of CFTS (70.1%), NIPT (17.8%) or STSS (12.0%). Covariates positively associated with NIPT-indicated PNDx, compared with CFTS-indicated testing, were residence in a region of socioeconomic advantage, metropolitan status and maternal age. Women from the most advantaged regions had higher adjusted odds ratios (aOR) of NIPT-indicated testing compared with women from disadvantaged regions (aOR 5.72, 95% CI: 2.95-11.09). The diagnostic yield of PNDx increased with socioeconomic region, from 14% in the lowest IRSAD quintile to 31.2% in the highest (P<0.0001). ConclusionPopulation-based data reveal significant disparities in screening indications for PNDx and hence, in diagnostic yield, according to socioeconomic region. This finding may have ethical and policy implications for prenatal screening in Australia.
引用
收藏
页码:404 / 410
页数:7
相关论文
共 29 条
[1]   Procedure-related risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta-analysis [J].
Akolekar, R. ;
Beta, J. ;
Picciarelli, G. ;
Ogilvie, C. ;
D'Antonio, F. .
ULTRASOUND IN OBSTETRICS & GYNECOLOGY, 2015, 45 (01) :16-26
[2]   Non-invasive prenatal testing: a review of international implementation and challenges [J].
Allyse, Megan ;
Minear, Mollie A. ;
Berson, Elisa ;
Sridhar, Shilpa ;
Rote, Margaret ;
Hung, Anthony ;
Chandrasekharan, Subhashini .
INTERNATIONAL JOURNAL OF WOMENS HEALTH, 2015, 7 :113-126
[3]  
[Anonymous], CENS POP HOUS SOC IN
[4]   Health care variation: time to act [J].
Buchan, Heather A. ;
Duggan, Anne ;
Hargreaves, Jenny ;
Scott, Ian A. ;
Slawomirski, Luke .
MEDICAL JOURNAL OF AUSTRALIA, 2016, 205 (10) :S30-S33
[5]   Uptake, outcomes, and costs of implementing non-invasive prenatal testing for Down's syndrome into NHS maternity care: prospective cohort study in eight diverse maternity units [J].
Chitty, Lyn S. ;
Wright, David ;
Hill, Melissa ;
Verhoef, Talitha I. ;
Daley, Rebecca ;
Lewis, Celine ;
Mason, Sarah ;
McKay, Fiona ;
Jenkins, Lucy ;
Howarth, Abigail ;
Cameron, Louise ;
McEwan, Alec ;
Fisher, Jane ;
Kroese, Mark ;
Morris, Stephen .
BMJ-BRITISH MEDICAL JOURNAL, 2016, 354
[6]   Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening [J].
Dondorp, Wybo ;
de Wert, Guido ;
Bombard, Yvonne ;
Bianchi, Diana W. ;
Bergmann, Carsten ;
Borry, Pascal ;
Chitty, Lyn S. ;
Fellmann, Florence ;
Forzano, Francesca ;
Hall, Alison ;
Henneman, Lidewij ;
Howard, Heidi C. ;
Lucassen, Anneke ;
Ormond, Kelly ;
Peterlin, Borut ;
Radojkovic, Dragica ;
Rogowski, Wolf ;
Soller, Maria ;
Tibben, Aad ;
Tranebjaerg, Lisbeth ;
van El, Carla G. ;
Cornel, Martina C. .
EUROPEAN JOURNAL OF HUMAN GENETICS, 2015, 23 (11) :1438-1450
[7]   Clinical variation: why it matters [J].
Duggan, Anne ;
Koff, Elizabeth ;
Marshall, Villis .
MEDICAL JOURNAL OF AUSTRALIA, 2016, 205 (10) :S3-S4
[8]   Factors affecting the uptake of prenatal screening tests for congenital anomalies; a multicentre prospective cohort study [J].
Gitsels-van der Wal, Janneke T. ;
Verhoeven, Pieternel S. ;
Mannien, Judith ;
Martin, Linda ;
Reinders, Hans S. ;
Spelten, Evelien ;
Hutton, Eileen K. .
BMC PREGNANCY AND CHILDBIRTH, 2014, 14
[9]   Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics [J].
Gregg, Anthony R. ;
Skotko, Brian G. ;
Benkendorf, Judith L. ;
Monaghan, Kristin G. ;
Bajaj, Komal ;
Best, Robert G. ;
Klugman, Susan ;
Watson, Michael S. .
GENETICS IN MEDICINE, 2016, 18 (10) :1056-1065
[10]   Population-based trends in prenatal screening and diagnosis for aneuploidy: a retrospective analysis of 38years of state-wide data [J].
Hui, L. ;
Muggli, E. E. ;
Halliday, J. L. .
BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY, 2016, 123 (01) :90-97