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.