Pregnant couples at increased risk for common aneuploidies choose maximal information from invasive genetic testing

Genomic array detects more pathogenic chromosome aberrations than conventional karyotyping (CK), including genetic variants associated with a susceptibility for neurodevelopmental disorders; susceptibility loci (SL). Consensus regarding the scope of invasive prenatal diagnosis (PND) pregnant couples...

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Bibliographic Details
Published in:Clinical genetics 2015-07, Vol.88 (1), p.25-31
Main Authors: van der Steen, S.L., Diderich, K.E.M., Riedijk, S.R., Verhagen-Visser, J., Govaerts, L.C.P., Joosten, M., Knapen, M.F.C.M., Van Opstal, D., Srebniak, M.I., Tibben, A., Galjaard, R.J.H.
Format: Article
Language:English
Subjects:
Adult
Aneuploidy
Couples
Decision Making
Female
Genetic disorders
Genetic Testing
Humans
individualised choice
invasive prenatal genetic testing
Karyotyping
Male
microarray
Middle Aged
Oligonucleotide Array Sequence Analysis
Pregnancy
prenatal diagnosis
Prenatal Diagnosis - psychology
Risk
Surveys and Questionnaires
susceptibility loci
whole genome array
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Summary:Genomic array detects more pathogenic chromosome aberrations than conventional karyotyping (CK), including genetic variants associated with a susceptibility for neurodevelopmental disorders; susceptibility loci (SL). Consensus regarding the scope of invasive prenatal diagnosis (PND) pregnant couples should be offered is lacking. This study examined pregnant couples' preferences, doubts and satisfaction regarding the scope of invasive PND. Eighty‐two couples choosing prenatal screening (PNS) and 59 couples choosing invasive PND were offered a choice between 5 (comparable to CK) and 0.5 Mb resolution array analysis outcomes, the latter with or without reporting SL. A pre‐test self‐report questionnaire and post‐test telephone interview assessed their choices in‐depth. Actual (PND) and hypothetical (PNS) choices differed significantly (p 
ISSN:0009-9163
1399-0004
DOI:10.1111/cge.12479