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Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
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Expert Knowledge Influences Decision-Making for Couples Receiving Positive Prenatal Chromosomal Microarray Testing

M A Rubel1,2, A Werner-Lin3, F K Barg1,2

  • 1Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

Culture, Medicine and Psychiatry
|January 30, 2017
PubMed
Summary
This summary is machine-generated.

Patients with abnormal prenatal genetic testing results often rely on cultural expert knowledge (CEK) when biomedical expert knowledge (BEK) is uncertain. This CEK, including beliefs and social networks, significantly shapes understanding and decision-making regarding pregnancy.

Keywords:
Decision-makingExpert knowledgeMicroarrayPrenatal testingUncertainty

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Area of Science:

  • Genetics
  • Psychology
  • Sociology

Background:

  • Prenatal genetic testing, such as chromosomal microarray analysis, provides critical information about fetal health.
  • Interpreting abnormal results, especially those of uncertain significance, presents challenges for expectant parents.
  • Understanding the multifaceted factors influencing parental decision-making is crucial for effective genetic counseling.

Purpose of the Study:

  • To explore how patients and partners interpret abnormal prenatal genetic testing results.
  • To identify the sources of knowledge and support influencing decisions about pregnancy management.
  • To understand the psychosocial needs of families undergoing prenatal genetic testing.

Main Methods:

  • Semi-structured phone interviews were conducted with 27 female patients and 12 male partners who received positive prenatal microarray results.
  • A modified grounded theory approach was used to analyze interview data.
  • The study documented experiences with testing, understanding of results, emotional responses, decision-making factors, and psychosocial needs.

Main Results:

  • Understanding of prenatal genetic testing results is influenced by both biomedical expert knowledge (BEK) and cultural expert knowledge (CEK).
  • When BEK is limited, particularly with uncertain results, individuals heavily rely on CEK, encompassing religious beliefs, intuition, and social networks.
  • Cultural expert knowledge serves as a significant platform for comprehending genetic testing outcomes and guiding decisions.

Conclusions:

  • Decision-making in prenatal genetic testing extends beyond the biomedical domain, incorporating cultural and personal knowledge systems.
  • Culturally situated knowledge is vital for patient assessment and counseling, especially during periods of diagnostic uncertainty.
  • Integrating diverse forms of "knowing" can enhance the efficacy of genetic counseling and support for expectant families.