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

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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.

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Notes

  1. Information retrieved from https://www.newbornscreening.info/Parents/otherdisorders/CAH.html, last accessed 4 July, 2017.

  2. HCY, short for homocystinuria, is an amino acid disorder. Babies look healthy and normal at birth. Over time, if the condition is not treated, it can cause growth and learning delays. The milder form can be treated with vitamin B6 supplements. The other type does not respond to vitamin B6. Symptoms of both types vary widely from person to person. https://www.newbornscreening.info/Parents/aminoaciddisorders/CBS.html, accessed 14 July 2017

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Funding

This study was funded by the USA–Israel Binational Science Foundation Award Number: 2012109.

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Authors and Affiliations

  1. Department of Sociology and Anthropology, Ben-Gurion University of the Negev, Beer Sheva, Israel

    Aviad E. Raz & Yael Amano

  2. Department of Sociology, University of California, Los Angeles, USA

    Stefan Timmermans

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  1. Aviad E. Raz
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  2. Yael Amano
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  3. Stefan Timmermans
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Correspondence to Aviad E. Raz.

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All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5). Informed consent was obtained from all patients for being included in the study.

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The authors declare that they have no conflict of interests.

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Raz, A.E., Amano, Y. & Timmermans, S. Coming to terms with the imperfectly normal child: attitudes of Israeli parents of screen-positive infants regarding subsequent prenatal diagnosis. J Community Genet 10, 41–50 (2019). https://doi.org/10.1007/s12687-018-0361-9

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