Attitudes toward prenatal genetic testing and therapeutic termination of pregnancy among parents of offspring with Prader-Willi syndrome Noa Even-Zohar Gross a, 1 , Talia Geva-Eldar b, c, 1 , Yehuda Pollak b , Harry J. Hirsch d , Itai Gross e, * , Varda Gross-Tsur b, d a Department of Internal Medicine, Hadassah Medical Center, Jerusalem, Israel b Seymour Fox School of Education, The Hebrew University of Jerusalem, Jerusalem, Israel c Reproductive Endocrinology and Genetics Unit, Department of Obstetrics and Gynecology, Shaare Zedek Medical Center, Jerusalem, Israel d Neuropediatric Unit, Department of Pediatrics, Shaare Zedek Medical Center, Jerusalem, Israel e Department of Pediatrics, Hadassah Medical Center, Jerusalem, Israel article info Article history: Received 8 August 2016 Received in revised form 22 December 2016 Accepted 15 January 2017 Available online xxx Keywords: Prader Willi syndrome Parents attitudes Prenatal diagnosis Termination of pregnancy Fetal anomalies abstract Introduction: Prenatal diagnosis (PND) raises ethical dilemmas such as the option of termination of pregnancy (TOP) in cases with severe outcome. Prader-Willi Syndrome (PWS), a complex neurogenetic syndrome with high morbidity and mortality throughout life. Recently, a unique prenatal phenotype was reported and TOP becomes a possibility. Objective: To explore factors influencing the attitudes of parents of PWS children toward PND and TOP concerning a hypothetical pregnancy with a PWS fetus. Methods: All 85 parents of individuals with PWS were interviewed regarding their attitudes towards PND and TOP using semi-structured questionnaire. Results: Fifty-seven parents were supportive of invasive PND and 28 of non-invasive tests only; none opposed PND. Thirty eight favored TOP, additional 31 supported TOP under certain conditions such as spiritual advice, 15 were categorically against TOP. Attitudes correlated with religiosity (p < 0.025), mother's education (p < 0.001), mother's work status (p < 0.001), current age of the child with PWS (p < 0.008). Couples had similar attitudes regarding PND and TOP. No correlation was found with gender, genetic subtype and parental age. Conclusions: Most parents of individuals with PWS support PND, however less than half support TOP. Religiosity was the most influential factor. Familial worldview should be taken into account during prenatal counseling. © 2017 Published by Elsevier Masson SAS. Contents 1. Introduction ....................................................................................................................... 00 2. Methods ................................................................. ........................................................ 00 2.1. Study design ................................................................................................................ 00 2.2. Procedure ................................................................................................................... 00 2.3. Data analysis ............................................................ ................................................... 00 3. Results ............................................................................................................................ 00 3.1. Attitudinal responses toward prenatal diagnosis ........................................... ..................................... 00 3.2. Attitudinal responses toward termination of pregnancy .......................................................................... 00 4. Discussion ......................................................................................................................... 00 Conflict of interest ............................................................. .................................................... 00 * Corresponding author. Department of Pediatrics, Hadassah Medical Center, Ein Kerem, Kiryat Hadassah, POB 12000, Jerusalem 91120, Israel. E-mail address: itaigross@gmail.com (I. Gross). 1 These authors contributed equally to the study. Contents lists available at ScienceDirect European Journal of Medical Genetics journal homepage: http://www.elsevier.com/locate/ejmg http://dx.doi.org/10.1016/j.ejmg.2017.01.003 1769-7212/© 2017 Published by Elsevier Masson SAS. European Journal of Medical Genetics xxx (2017) 1e7 Please cite this article in press as: Even-Zohar Gross, N., et al., Attitudes toward prenatal genetic testing and therapeutic termination of pregnancy among parents of offspring with Prader-Willi syndrome, European Journal of Medical Genetics (2017), http://dx.doi.org/10.1016/ j.ejmg.2017.01.003