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

Journal of Clinical Medicine

Mary E. Norton¹  Sanae Nakagawa¹ 

[1] Department of Obstetrics, Gynecology and Reproductive Sciences, University of California, 350 Parnassus Ave, Suite 810, San Francisco, CA 94143-0705, USA; E-Mails:

关键词: prenatal genetic screening;    fragile X syndrome;    spinal muscular atrophy;    abortion;    prenatal diagnosis;   

DOI  :  10.3390/jcm3010144

来源: mdpi

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

【 授权许可】

CC BY   
© 2014 by the authors; licensee MDPI, Basel, Switzerland.