Evaluation of preferences of women and healthcare professionals in Singapore for implementation of noninvasive prenatal testing for Down syndrome

被引:20
作者
Barrett, Angela Natalie [1 ]
Advani, Henna Vishal [1 ]
Chitty, Lyn S. [2 ,3 ]
Su, Lin Lin [4 ]
Biswas, Arijit [4 ]
Tan, Wei Ching [5 ]
Hill, Melissa [2 ,3 ]
Choolani, Mahesh [1 ,4 ]
机构
[1] Natl Univ Singapore, Dept Obstet & Gynaecol, NUHS Tower Block,Level 12,1E Kent Ridge Rd, Singapore 119228, Singapore
[2] UCL Inst Child Hlth, Genet & Genom Med, London, England
[3] Great Ormond St Hosp Children NHS Fdn Trust, London, England
[4] Natl Univ Singapore Hosp, Dept Obstet & Gynaecol, Singapore, Singapore
[5] Singapore Gen Hosp, Dept Obstet & Gynaecol, Singapore, Singapore
关键词
cell-free DNA; cell-free fetal DNA; NIPT; prenatal screening; CELL-FREE DNA; PREGNANT-WOMEN; DIAGNOSIS; ANEUPLOIDY; CHOICE; ATTITUDES; ABNORMALITIES; 1ST-TRIMESTER; KNOWLEDGE; NIPT;
D O I
10.11622/smedj.2016114
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
INTRODUCTION Invasive prenatal diagnosis (IPD) has long been used to prenatally diagnose Down syndrome (DS), but it is associated with a small risk of miscarriage. Noninvasive prenatal testing (NIPT) is a highly sensitive screening test using cell-free DNA in maternal blood for detection of DS without the risk of miscarriage, but it confers a small risk of false-positive and false-negative results. The implementation of these procedures into clinical practice requires an understanding of stakeholder preferences. METHODS A total of 69 health professionals (HPs) and 301 women took part in a discrete choice experiment (DCE) in which preferences for four prenatal test attributes - accuracy, time of results, risk of miscarriage and amount of information provided - were assessed. Conditional logit regression was used to analyse the data. Data on demographics and ranked preferences for test attributes was collected, and a direct choice question regarding NIPT, IPD or neither test was posed to participants. RESULTS The women showed a preference for test safety, whereas HPs prioritised test accuracy above all other attributes. When offered a direct choice of NIPT, IPD or neither test, women aged 35 years and older, those with previous miscarriage or who knew a child with DS were more likely to choose NIPT. Chinese women preferred NIPT, whereas Indian women preferred IPD. CONCLUSION Our data highlights the need for patient-specific counselling, taking into account previous experiences and cultural factors. Since women and HPs prioritise different test attributes, it is essential that HPs recognise these differences in order to provide non-biased counselling.
引用
收藏
页码:298 / 310
页数:13
相关论文
共 48 条
[41]   Is informed choice in prenatal testing universally valued? A population-based survey in Europe and Asia [J].
van den Heuvel, A. ;
Chitty, L. ;
Dormandy, E. ;
Newson, A. ;
Attwood, S. ;
Ma, R. ;
Masturzo, B. ;
Pajkrt, E. ;
Marteau, T. M. .
BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY, 2009, 116 (07) :880-885
[42]   NIPT-based screening for Down syndrome and beyond: what do pregnant women think? [J].
van Schendel, Rachel V. ;
Dondorp, Wybo J. ;
Timmermans, Danielle R. M. ;
van Hugte, Eline J. H. ;
de Boer, Anne ;
Pajkrt, Eva ;
Lachmeijer, Augusta M. A. ;
Henneman, Lidewij .
PRENATAL DIAGNOSIS, 2015, 35 (06) :598-604
[43]   Noninvasive Prenatal Testing for Microdeletion Syndromes and Expanded Trisomies Proceed With Caution [J].
Vora, Neeta L. ;
O'Brien, Barbara M. .
OBSTETRICS AND GYNECOLOGY, 2014, 123 (05) :1097-1099
[44]   Maternal Mosaicism Is a Significant Contributor to Discordant Sex Chromosomal Aneuploidies Associated with Noninvasive Prenatal Testing [J].
Wang, Yanlin ;
Chen, Yan ;
Tian, Feng ;
Zhang, Jianguang ;
Song, Zhuo ;
Wu, Yi ;
Han, Xu ;
Hu, Wenjing ;
Ma, Duan ;
Cram, David ;
Cheng, Weiwei .
CLINICAL CHEMISTRY, 2014, 60 (01) :251-259
[45]   First-trimester screening for trisomies 21 and 18 [J].
Wapner, R ;
Thom, E ;
Simpson, JL ;
Pergament, E ;
Silver, R ;
Filkins, K ;
Platt, L ;
Mahoney, M ;
Johnson, A ;
Hogge, WA ;
Wilson, RD ;
Mohide, P ;
Hershey, D ;
Krantz, D ;
Zachary, J ;
Snijders, R ;
Greene, N ;
Sabbagha, R ;
MacGregor, S ;
Hill, L ;
Gagnon, A ;
Hallahan, T ;
Jackson, L .
NEW ENGLAND JOURNAL OF MEDICINE, 2003, 349 (15) :1405-1413
[46]   Expanding the scope of noninvasive prenatal testing: detection of fetal microdeletion syndromes [J].
Wapner, Ronald J. ;
Babiarz, Joshua E. ;
Levy, Brynn ;
Stosic, Melissa ;
Zimmermann, Bernhard ;
Sigurjonsson, Styrmir ;
Wayham, Nicholas ;
Ryan, Allison ;
Banjevic, Milena ;
Lacroute, Phil ;
Hu, Jing ;
Hall, Megan P. ;
Demko, Zachary ;
Siddiqui, Asim ;
Rabinowitz, Matthew ;
Gross, Susan J. ;
Hill, Matthew ;
Benn, Peter .
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY, 2015, 212 (03) :332.e1-332.e9
[47]   Attitudes toward non-invasive prenatal diagnosis among pregnant women and health professionals in Japan [J].
Yotsumoto, Junko ;
Sekizawa, Akihiko ;
Koide, Keiko ;
Purwosunu, Yuditiya ;
Ichizuka, Kiyotake ;
Matsuoka, Ryu ;
Kawame, Hiroshi ;
Okai, Takashi .
PRENATAL DIAGNOSIS, 2012, 32 (07) :674-679
[48]   Detection of Fetal Subchromosomal Abnormalities by Sequencing Circulating Cell-Free DNA from Maternal Plasma [J].
Zhao, Chen ;
Tynan, John ;
Ehrich, Mathias ;
Hannum, Gregory ;
McCullough, Ron ;
Saldivar, Juan-Sebastian ;
Oeth, Paul ;
van den Boom, Dirk ;
Deciu, Cosmin .
CLINICAL CHEMISTRY, 2015, 61 (04) :608-616