Women’s Attitudes Regarding Prenatal Testing for a Range of Congenital Disorders of Varying Severity

作者: Mary Norton , Sanae Nakagawa , Miriam Kuppermann

DOI: 10.3390/JCM3010144

关键词:

摘要: Little is known about women’s comparative attitudes towards prenatal testing for different categories of genetic disorders. We interviewed women who delivered healthy infants within the past year and assessed screening diagnostic testing, as well pregnancy termination, Down syndrome (DS), fragile X (FraX), cystic fibrosis (CF), spinal muscular atrophy (SMA), phenylketonuria (PKU) congenital heart defects (CHD). Ninety-five aged 21 to 48 years participated, whom 60% were Caucasian, 23% Asian, 10% Latina 7% African American; 82% college graduates. ninety-eight percent indicated that they would have each condition, majority amniocentesis (64% PKU 72% SMA). Inclinations regarding termination varied by condition: Whereas only reported probably or definitely terminate a CHD, 41% do so DS 62% SMA. Most in this cohort undergo all six conditions presented, without intent an affected pregnancy. These least inclined treatable disorders (PKU, CHD) versus those associated with intellectual disability (DS, FraX) most likely SMA, typically lethal childhood.

参考文章(15)
Murray Krahn, Gary Naglie, The next step in guideline development: incorporating patient preferences. JAMA. ,vol. 300, pp. 436- 438 ,(2008) , 10.1001/JAMA.300.4.436
Marylène Dugas, Allison Shorten, Eric Dubé, Maggy Wassef, Emmanuel Bujold, Nils Chaillet, Decision aid tools to support women's decision making in pregnancy and birth: A systematic review and meta-analysis Social Science & Medicine. ,vol. 74, pp. 1968- 1978 ,(2012) , 10.1016/J.SOCSCIMED.2012.01.041
Feighanne Hathaway, Esther Burns, Harry Ostrer, Consumers' desire towards current and prospective reproductive genetic testing. Journal of Genetic Counseling. ,vol. 18, pp. 137- 146 ,(2009) , 10.1007/S10897-008-9199-3
J Colquitt, C Green, M Sidhu, D Hartwell, N Waugh, Clinical and cost-effectiveness of continuous subcutaneous insulin infusion for diabetes Health Technology Assessment. ,vol. 8, pp. 1- 186 ,(2004) , 10.3310/HTA8430
Howard Cuckle, Principles of screening The Obstetrician and Gynaecologist. ,vol. 6, pp. 21- 25 ,(2004) , 10.1576/TOAG.6.1.21.26976
Brian L. Shaffer, Aaron B. Caughey, Mary E. Norton, Variation in the decision to terminate pregnancy in the setting of fetal aneuploidy. Prenatal Diagnosis. ,vol. 26, pp. 667- 671 ,(2006) , 10.1002/PD.1462
Michael J. Barry, Involving Patients in Medical Decisions JAMA. ,vol. 282, pp. 2356- 2357 ,(1999) , 10.1001/JAMA.282.24.2356
L. Henneman, I. Bramsen, Th. A. M. Van Os, I. E. W. Reuling, H. G. M. Heyerman, J. van der Laag, H. M. van der Ploeg, L. P. ten Kate, Attitudes towards reproductive issues and carrier testing among adult patients and parents of children with cystic fibrosis (CF). Prenatal Diagnosis. ,vol. 21, pp. 1- 9 ,(2001) , 10.1002/1097-0223(200101)21:1<1::AID-PD967>3.0.CO;2-#
Eugene Pergament, Deborah Pergament, Reproductive decisions after fetal genetic counselling Best Practice & Research in Clinical Obstetrics & Gynaecology. ,vol. 26, pp. 517- 529 ,(2012) , 10.1016/J.BPOBGYN.2012.04.001