Fetal sex determination using cell-free fetal DNA: service users' experiences of and preferences for service delivery

被引:44
作者
Lewis, Celine [1 ]
Hill, Melissa [2 ,3 ]
Skirton, Heather [4 ]
Chitty, Lyn S. [2 ,3 ,5 ]
机构
[1] Genet Alliance UK, London, England
[2] Inst Child Hlth, London, England
[3] Great Ormond St Hosp Sick Children, London, England
[4] Univ Plymouth, Fac Hlth Educ & Soc, Plymouth PL4 8AA, Devon, England
[5] Univ Coll London Hosp NHS Fdn Trust, Fetal Med Unit, London, England
基金
美国国家卫生研究院;
关键词
CONGENITAL ADRENAL-HYPERPLASIA; PRENATAL-DIAGNOSIS; ATTITUDES; PREGNANCY; IMPACT; WOMEN;
D O I
10.1002/pd.3893
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Objective The aim of this study was to determine service users' experiences of and preferences for service delivery of fetal sex determination by noninvasive prenatal diagnosis (NIPD) using cell-free fetal DNA. Methods We used a qualitative approach using semistructured interviews. Thirty-eight women and six of their partners were recruited. Results NIPD was viewed as a positive development, which facilitated reproductive autonomy as it expanded reproductive choice. The majority of women heard about NIPD during pregnancy and had received information about the test at a specialist centre. Features of NIPD women considered most important were that it could be performed early in pregnancy and was safe. Participants had a preference for being given information about NIPD and test results by a healthcare professional experienced in genetic testing and with specialist knowledge about their condition, rather than a general practitioner or midwife who may not have the same level of knowledge. Women also valued receiving their test results by telephone. Conclusion Women were overwhelmingly positive about their experience of NIPD, which suggests that current delivery of this service in England is acceptable to these patients who are at high risk of sex-linked genetic disorders. They particularly valued expert counselling both before and after testing, emphasising that it should be offered through specialist services. (c) 2012 John Wiley & Sons, Ltd.
引用
收藏
页码:735 / 741
页数:7
相关论文
共 25 条
[1]  
Braun V., 2006, Qualitative Research in Psychology, V3, P77, DOI 10.1191/1478088706qp063oa
[2]   Congenital adrenal hyperplasia: update on prenatal diagnosis and treatment [J].
Carlson, AD ;
Obeid, JS ;
Kanellopoulou, N ;
Wilson, RC ;
New, MI .
JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY, 1999, 69 (1-6) :19-29
[3]   Pregnancy in carriers of haemophilia [J].
Chi, C. ;
Lee, C. A. ;
Shiltagh, N. ;
Khan, A. ;
Pollard, D. ;
Kadir, R. A. .
HAEMOPHILIA, 2008, 14 (01) :56-64
[4]   Non-invasive first trimester determination of fetal gender: a new approach for prenatal diagnosis of haemophilia [J].
Chi, C ;
Hyett, JA ;
Finning, KM ;
Lee, CA ;
Kadir, RA .
BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY, 2006, 113 (02) :239-242
[5]   New aids for the non-invasive prenatal diagnosis of achondroplasia: dysmorphic features, charts of fetal size and molecular confirmation using cell-free fetal DNA in maternal plasma [J].
Chitty, L. S. ;
Griffin, D. R. ;
Meaney, C. ;
Barrett, A. ;
Khalil, A. ;
Pajkrt, E. ;
Cole, T. J. .
ULTRASOUND IN OBSTETRICS & GYNECOLOGY, 2011, 37 (03) :283-289
[6]   Noninvasive Fetal Sex Determination Using Cell-Free Fetal DNA A Systematic Review and Meta-analysis [J].
Devaney, Stephanie A. ;
Palomaki, Glenn E. ;
Scott, Joan A. ;
Bianchi, Diana W. .
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 2011, 306 (06) :627-636
[7]   Non-invasive fetal sex determination: Impact on clinical practice [J].
Finning, Kirstin M. ;
Chitty, Lyn S. .
SEMINARS IN FETAL & NEONATAL MEDICINE, 2008, 13 (02) :69-75
[8]   Congenital hydrocephalus - prevalence, prenatal diagnosis and outcome of pregnancy in four European regions [J].
Garne, Ester ;
Loane, Maria ;
Addor, Marie-Claude ;
Boyd, Patricia A. ;
Barisic, Ingeborg ;
Dolk, Helen .
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, 2010, 14 (02) :150-155
[9]   Attitudes to prenatal testing and termination of pregnancy for fetal abnormality: a comparison of white and Pakistani women in the UK [J].
Hewison, Jenny ;
Green, Josephine M. ;
Ahmed, Shenaz ;
Cuckle, Howard S. ;
Hirst, Janet ;
Hucknall, Clare ;
Thornton, Jim G. .
PRENATAL DIAGNOSIS, 2007, 27 (05) :419-430
[10]   Determination of foetal sex in pregnancies at risk of haemophilia: a qualitative study exploring the clinical practices and attitudes of health professionals in the United Kingdom [J].
Hill, M. ;
Compton, C. ;
Lewis, C. ;
Skirton, H. ;
Chitty, L. S. .
HAEMOPHILIA, 2012, 18 (04) :575-583