Couple-based expanded carrier screening provided by general practitioners to couples in the Dutch general population:psychological outcomes and reproductive intentions

PURPOSE: The aim of expanded preconception carrier screening (ECS) is to inform any couple wishing to conceive about their chances of having children with severe autosomal or X-linked recessive conditions. Responsible implementation of ECS as reproductive genetic screening in routine care requires assessment of benefits and harms. We examined the psychological outcomes of couple-based ECS for 50 autosomal recessive (AR) conditions provided by general practitioners (GPs) to couples from the Dutch general population. METHODS: Dutch GPs invited 4,295 women aged 18-40. We examined anxiety (State-T... Mehr ...

Verfasser: Birnie, Erwin
Schuurmans, Juliette
Plantinga, Mirjam
Abbott, Kristin M
Fenwick, Angela
Lucassen, Anneke
Berger, Marjolein Y
van Langen, Irene M
Ranchor, Adelita V
Dokumenttyp: Artikel
Erscheinungsdatum: 2021
Reihe/Periodikum: Birnie , E , Schuurmans , J , Plantinga , M , Abbott , K M , Fenwick , A , Lucassen , A , Berger , M Y , van Langen , I M & Ranchor , A V 2021 , ' Couple-based expanded carrier screening provided by general practitioners to couples in the Dutch general population : psychological outcomes and reproductive intentions ' , Genetics in Medicine , vol. 23 , no. 9 , pp. 1761-1768 . https://doi.org/10.1038/s41436-021-01199-6
Schlagwörter: INFORMED DECISION-MAKING / CYSTIC-FIBROSIS / VALIDATION / SCALE
Sprache: Englisch
Permalink: https://search.fid-benelux.de/Record/base-29028156
Datenquelle: BASE; Originalkatalog
Powered By: BASE
Link(s) : https://hdl.handle.net/11370/7f7922b9-b89c-4d14-a6eb-23c2027999a0

PURPOSE: The aim of expanded preconception carrier screening (ECS) is to inform any couple wishing to conceive about their chances of having children with severe autosomal or X-linked recessive conditions. Responsible implementation of ECS as reproductive genetic screening in routine care requires assessment of benefits and harms. We examined the psychological outcomes of couple-based ECS for 50 autosomal recessive (AR) conditions provided by general practitioners (GPs) to couples from the Dutch general population. METHODS: Dutch GPs invited 4,295 women aged 18-40. We examined anxiety (State-Trait Anxiety Inventory, STAI-6), worry, decisional conflict (DCS) over time in participants declining GP counseling or attending GP counseling with/without testing. RESULTS: One hundred ninety couples participated; 130 attended counseling, of whom 117 proceeded with testing. No carrier couples were identified. Before counseling, worry (median 6.0) and anxiety (mean 30-34) were low and lower than the population reference (36.4), although some individuals reported increased anxiety or worry. At follow-up, test acceptors reported less anxiety than test decliners (mean 29 vs. 35); differences in anxiety after testing compared to before counseling were not meaningful. Most participants (90%) were satisfied with their decision (not) to undergo testing. CONCLUSION: Some individuals reported temporarily clinically relevant distress. Overall, the psychological outcomes are acceptable and no barrier to population-wide implementation.