ArticleJournal of genetic counseling2016
"Something Extra on Chromosome 5": Parents' Understanding of Positive Prenatal Chromosomal Microarray Analysis (CMA) Results.
Article in Journal of genetic counseling, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 2 of them syntheses that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
12 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Systematic Review: The Psychosocial Impacts of Autism-Related Genetic Testing.Journal of the American Academy of Child and Adolescent Psychiatry · 2026Pooled it
- Couples experiences of receiving uncertain results following prenatal microarray or exome sequencing: A mixed-methods systematic review.Prenatal diagnosis · 2020Pooled it
- A Qualitative Study of Parental Decision-Making Following a Prenatal Diagnosis of Turner Syndrome: "How Serious Is This?"Journal of genetic counseling · 2026Article
- A qualitative study of parents' experiences with receiving a prenatal diagnosis of confined placental mosaicism - "We had nothing to rely on, you know?"Journal of genetic counseling · 2026Article
- 'I Have my Beliefs, but Then I Have my Reality': Reflections of Black and South Asian Parents Living in England on Screening and Genetic Diagnosis in Pregnancy.Prenatal diagnosis · 2025Article
- Making Sense of a Prenatal Detection of Trisomy 16 Mosaicism in the Placenta: A Qualitative Study of Pregnant Women's Decision Making.Prenatal diagnosis · 2025Article
- Parental experiences of uncertainty following an abnormal fetal anomaly scan: Insights using Han's taxonomy of uncertainty.Journal of genetic counseling · 2021Article
- Accuracy of in-utero MRI to detect fetal brain abnormalities and prognosticate developmental outcome: postnatal follow-up of the MERIDIAN cohort.The Lancet. Child & adolescent health · 2020Article
- Pregnant Genetic Counselors in an Era of Advanced Genomic Tests: What Do the Experts Test Prenatally?Journal of genetic counseling · 2018Article
- Patient-Centered Obstetric Care in the Age of Cell-Free Fetal DNA Prenatal Screening.Journal of patient experience · 2018Article
- Expert Knowledge Influences Decision-Making for Couples Receiving Positive Prenatal Chromosomal Microarray Testing Results.Culture, medicine and psychiatry · 2017Article
- Balancing Genetics (Science) and Counseling (Art) in Prenatal Chromosomal Microarray Testing.Journal of genetic counseling · 2016Review
Corrections and comments
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Authors and funding
5 authors.
Funding
Abstract
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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Registered trials
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