“Something Extra on Chromosome 5”: Parents’ Understanding of Positive Prenatal Chromosomal Microarray Analysis (CMA) Results Article Swipe
Sarah A. Walser
,
Allison Werner‐Lin
,
Amita Russell
,
Ronald J. Wapner
,
Barbara A. Bernhardt
·
YOU?
·
· 2016
· Open Access
·
· DOI: https://doi.org/10.1007/s10897-016-9943-z
YOU?
·
· 2016
· Open Access
·
· DOI: https://doi.org/10.1007/s10897-016-9943-z
This study aims to explore how couples’ understanding of the nature and consequences of positive prenatal chromosomal microarray analysis (CMA) results impacts decision‐making and concern about pregnancy. We interviewed 28 women and 12 male partners after receiving positive results and analyzed the transcripts to assess their understanding and level of concern about the expected clinical implications of results. Participant descriptions were compared to the original laboratory interpretation. When diagnosed prenatally, couples’ understanding of the nature and consequences of copy number variants (CNVs) impacts decision‐making and concern. Findings suggest women, but less so partners, generally understand the nature and clinical implications of prenatal CMA results. Couples feel reassured, perhaps sometimes falsely so, when a CNV is inherited from a “normal” parent and experience considerable uncertainty when a CNV is de novo , frequently precipitating a search for additional information and guidance. Five factors influenced participants’ concern including: the pattern of inheritance, type of possible phenotypic involvement, perceived manageability of outcomes, availability and strength of evidence about outcomes associated with the CNV, and provider messages about continuing the pregnancy. A good understanding of results is vital as couples decide whether or not to continue with their pregnancy and seek additional information to assist in pregnancy decision‐making.
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Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1007/s10897-016-9943-z
- OA Status
- green
- Cited By
- 33
- References
- 45
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W2292601541
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W2292601541Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1007/s10897-016-9943-zDigital Object Identifier
- Title
-
“Something Extra on Chromosome 5”: Parents’ Understanding of Positive Prenatal Chromosomal Microarray Analysis (CMA) ResultsWork title
- Type
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articleOpenAlex work type
- Language
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enPrimary language
- Publication year
-
2016Year of publication
- Publication date
-
2016-03-04Full publication date if available
- Authors
-
Sarah A. Walser, Allison Werner‐Lin, Amita Russell, Ronald J. Wapner, Barbara A. BernhardtList of authors in order
- Landing page
-
https://doi.org/10.1007/s10897-016-9943-zPublisher landing page
- Open access
-
YesWhether a free full text is available
- OA status
-
greenOpen access status per OpenAlex
- OA URL
-
https://www.ncbi.nlm.nih.gov/pmc/articles/5011030Direct OA link when available
- Concepts
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Genetic counseling, Pregnancy, Medicine, Prenatal diagnosis, Psychology, Human genetics, Inheritance (genetic algorithm), Developmental psychology, Genetics, Biology, Fetus, GeneTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
33Total citation count in OpenAlex
- Citations by year (recent)
-
2025: 4, 2023: 2, 2021: 5, 2020: 5, 2019: 7Per-year citation counts (last 5 years)
- References (count)
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45Number of works referenced by this work
- Related works (count)
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10Other works algorithmically related by OpenAlex
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