title: "Something Extra on Chromosome 5": Parents' Understanding of Positive Prenatal Chromosomal Microarray Analysis (CMA) Results.
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.
authors.affiliation: Division of Translational Medicine and Human Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. sarah.walser@uphs.upenn.edu.|Translational Medicine and Human Genetics, University of Pennsylvania Perelman School of Medicine, 3400 Spruce St. Silverstein 5, Philadelphia, PA, 19104, USA. sarah.walser@uphs.upenn.edu.
authors.forename: Sarah A
authors.initials: SA
authors.lastname: Walser
authors.affiliation: School of Social Policy and Practice, University of Pennsylvania, Philadelphia, PA, USA.
authors.forename: Allison
authors.initials: A
authors.lastname: Werner-Lin
authors.affiliation: Department of Obstetrics and Gynecology, Columbia University Medical Center, New York, NY, USA.
authors.forename: Amita
authors.initials: A
authors.lastname: Russell
authors.affiliation: Department of Obstetrics and Gynecology, Columbia University Medical Center, New York, NY, USA.
authors.forename: Ronald J
authors.initials: RJ
authors.lastname: Wapner
authors.affiliation: Division of Translational Medicine and Human Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
authors.forename: Barbara A
authors.initials: BA
authors.lastname: Bernhardt
mesh_terms: D000328:Adult; D002877:Chromosomes, Human; D032882:Comprehension; D056915:DNA Copy Number Variations; D003657:Decision Making; D005260:Female; D005817:Genetic Counseling / Q000523:psychology*; D006801:Humans; D008297:Male; D046228:Microarray Analysis; D008875:Middle Aged; D010290:Parents / Q000193:education / Q000523:psychology*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000523:psychology*; D035501:Uncertainty; D055815:Young Adult
keywords: Copy number variant; Genetic counseling; Microarray analysis; Prenatal testing; Understanding