Coming to terms with the imperfectly normal child: attitudes of Israeli parents of screen-positive infants regarding subsequent prenatal diagnosis.

Abstract

This study examines the interface between newborn screening and prenatal diagnosis from the point-of-view of parents of screen-positive children. Many conditions covered by newborn screening represent classic (autosomal recessive) Mendelian disorders. Parents of screen-positive infants therefore often come to learn that they are carriers of the disease, and face a decision whether to test for it in future pregnancies. Semi-structured interviews were conducted in 2015-2017 with 34 Israeli parents whose child was screen positive. Three major themes emanated from the parents' attitudes toward prenatal testing for the disease in prospective hypothetical pregnancies: rejection of prenatal testing for the disease associated with the screen positive, and relying instead on newborn screening to reveal if a future baby is also sick (18/34, 53%); support of prenatal testing to get more information (7/34, 21%) and support of prenatal testing in order to abort in case of a test positive (9/34, 26%). We discuss the importance of newborn screening for reproductive decision-making, highlighting the arguments associated with positive and negative parental views of the possibility of having another child with the same condition associated with the screen-positive of the child that had already been born. The conclusions challenge the common assertion that parents pursue the dream of the "perfect child" through prenatal diagnosis that "naturally" leads to selective abortion. The diversity of views expressed by Israeli parents of screen-positive children highlights the diversity of normative scripts of "genetic responsibility" in the context of parenthood.