“Something Extra on Chromosome 5”: Parents’ Understanding of Positive Prenatal Chromosomal Microarray Analysis (CMA) Results

• Published in: Journal of genetic counseling Vol. 25; no. 5; pp. 1116 - 1126
• Main Authors: Walser, Sarah A., Werner-Lin, Allison, Russell, Amita, Wapner, Ronald J., Bernhardt, Barbara A.
• Format: Journal Article
• Language: English
• Published: New York Springer US 01-10-2016; Blackwell Publishing Ltd
• Subjects: Adult; Antenatal; Biomedical and Life Sciences; Biomedicine; Chromosome 5; Chromosomes; Chromosomes, Human; Clinical Psychology; Comprehension; Copy number; Copy number variant; Couples; Decision Making; DNA Copy Number Variations; DNA microarrays; Ethics; Female; Genetic counseling; Genetic Counseling - psychology; Genetic disorders; Genetic testing; Guidance; Gynecology; Heredity; Human Genetics; Humans; Inheritance; Male; Microarray Analysis; Middle Aged; Original Research; Parents - education; Parents - psychology; Pregnancy; Prenatal care; Prenatal Diagnosis - psychology; Prenatal testing; Public Health; Uncertainty; Understanding; Variants; Young Adult; United States > US; Understanding; Prenatal testing; Genetic counseling; Copy number variant; Microarray analysis
• ISSN: 1059-7700; 1573-3599
• DOI: 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.