The "false positive" child in trisomy 21 screening: what effect on the mother's representations?

被引:0
作者
Zorzi, Frederic [1 ]
Lamort-Bouche, Marion [1 ,2 ]
Deplace, Sylvie [1 ]
Perdrix, Corinne [1 ]
Wecxsteen, Lucie [1 ]
Flori, Marie [1 ,3 ]
机构
[1] Univ Claude Bernard Lyon 1, Coll Univ Med Gen, F-69008 Lyon, France
[2] Univ Claude Bernard Lyon 1, Unite Mixte Rech Epidemiol & Surveillance Transpo, UMRESTTE UMR T9405, F-69008 Lyon, France
[3] Univ Claude Bernard Lyon 1, Lab P2S, EA4129, F-69008 Lyon, France
来源
EXERCER-LA REVUE FRANCOPHONE DE MEDECINE GENERALE | 2019年 / 153期
关键词
screening; false positive; Down syndrome; mother child relation;
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Context. Down syndrome is the most common chromosomal abnormality and is screened prenatally. The positive predictive value of this screening test implies that significant numbers of patients are affected by a false positive (about 26 000 women in 2013). Published data describes the anxiety the testing process can induce in mothers, but no study has investigated the impact of this anxiety on the mother-child relationship. The purpose of our study was to explore the experiences of patients and the impact on the mother-child relationship. Method. A qualitative study was conducted in women in a high risk group who had amniocentesis with normal fetal karyotype. The process was validated by an ethics committee. Coding was carried out on each interview, and data was collated. The results of the analysis were triangulated by the project director. Results. 17 semi-structured interviews were conducted. The patients in the study were asked to express the level of anxiety they had experienced at each of the different stages of the screening process : when they received the test result, during sampling of amniotic fluid, and whilst waiting for the results. This anxiety sometimes persisted after the birth. The patients were critical about the way of announcing. The impact on the ability of the mother to bond with the child after the birth was noted but would require further research. Conclusion. The "false positive" births following Down syndrome screening constitute a healthy population who have been subjected in utero to testing procedures which exposed them to high level of anxiety, as experienced by their mothers, at key points in their development. It is important that primary care practitioners are made aware of the potential for this anamnestic response so they are able to offer support and a listening ear to parents who would like the opportunity to talk about their experiences, and where necessary to refer patients on for further specialised conselling.
引用
收藏
页码:202 / 207
页数:6
相关论文
共 28 条
  • [21] Shedding new light on false positive diagnosis of trisomy 21 by fluorescence in situ hybridization (FISH) on uncultured amniotic fluid cells:: experiences from two Canadian cytogenetic laboratories
    Wang, Jia-Chi
    Bowser, Kathy
    Chernos, Judy
    PRENATAL DIAGNOSIS, 2007, 27 (10) : 964 - 966
  • [22] First trimester screening for trisomy 21 in gestational week 8-10 by ADAM12-S as a maternal serum marker
    Torring, Niels
    Ball, Susan
    Wright, Dave
    Sarkissian, Gaiane
    Guitton, Marie
    Darbouret, Bruno
    REPRODUCTIVE BIOLOGY AND ENDOCRINOLOGY, 2010, 8
  • [23] Rapid confirmation of maternal origin of trisomy 21 by quantitative fluorescent polymerase chain reaction in a fetus associated with increased nuchal translucency, abnormal first-trimester maternal serum screening result and positive non-invasive prenatal testing for trisomy 21
    Chen, Chih-Ping
    TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY, 2024, 63 (06): : 953 - 954
  • [24] First trimester Down's syndrome screening shows high detection rate for trisomy 21, but poor performance in structural abnormalities -: Regional outcome results
    Rissanen, Anne
    Niemimaa, Marko
    Suonpaa, Mikko
    Ryynanen, Markku
    Heinonen, Seppo
    FETAL DIAGNOSIS AND THERAPY, 2007, 22 (01) : 45 - 50
  • [25] Making sense of the situation: Women's reflection of positive fetal screening 11-21 months after giving birth
    Kristjansdottir, Hildur
    Gottfredsdottir, Helga
    MIDWIFERY, 2014, 30 (06) : 643 - 649
  • [26] Effect of Cell-Free DNA Screening vs Direct Invasive Diagnosis on Miscarriage Rates in Women With Pregnancies at High Risk of Trisomy 21 A Randomized Clinical Trial
    Malan, Valerie
    Bussieres, Laurence
    Winer, Norbert
    Jais, Jean-Philippe
    Baptiste, Amandine
    Le Lorc'h, Marc
    Elie, Caroline
    O'Gorman, Neil
    Fries, Nicolas
    Houfflin-Debarge, Veronique
    Sentilhes, Loic
    Vekemans, Michel
    Ville, Yves
    Salomon, Laurent J.
    JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 2018, 320 (06): : 557 - 565
  • [27] Women's uptake of non-invasive DNA testing following a high-risk screening test for trisomy 21 within a publicly funded healthcare system: findings from a retrospective review
    Chan, Yiu Man
    Leung, Wing Cheong
    Chan, Wan Pang
    Leung, Tak Yeung
    Cheng, Yvonne Kwun Yue
    Sahota, Daljit Singh
    PRENATAL DIAGNOSIS, 2015, 35 (04) : 342 - 347
  • [28] False-positive fecal immunochemical test results in colorectal cancer screening and gastrointestinal drug use (May 12, 10.1007/s00384-021-03947-1, 2021)
    Arnal, M. J. Domper
    Mateo, S. Garcia
    Hermoso-Duran, S.
    Abad, D.
    Carrera-Lasfuentes, P.
    Velazquez-Campoy, A.
    Abian Franco, O.
    Lanas, A.
    INTERNATIONAL JOURNAL OF COLORECTAL DISEASE, 2021, 36 (09) : 1871 - 1871