title: Pregnant couples at increased risk for common aneuploidies choose maximal information from invasive genetic testing.
abstract: 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 < 0.001). Ninety-five percent of the couples in the PND group chose 0.5 Mb array, vs 69% in the PNS group. Seven percent of the PND group wished not to be informed of SL. Ninety percent was satisfied with their choice and wished to decide about the scope themselves. Pregnant couples wish to make their own choices regarding the scope of invasive PND. It therefore seems justified to offer them a choice in both the resolution of array and disclosure of SL.
authors.affiliation: Department of Clinical Genetics.
authors.forename: S L
authors.initials: SL
authors.lastname: van der Steen
authors.affiliation: Department of Clinical Genetics.
authors.forename: K E M
authors.initials: KE
authors.lastname: Diderich
authors.affiliation: Department of Clinical Genetics.
authors.forename: S R
authors.initials: SR
authors.lastname: Riedijk
authors.affiliation: Department of Clinical Genetics.
authors.forename: J
authors.initials: J
authors.lastname: Verhagen-Visser
authors.affiliation: Department of Clinical Genetics.
authors.forename: L C P
authors.initials: LC
authors.lastname: Govaerts
authors.affiliation: Department of Clinical Genetics.
authors.forename: M
authors.initials: M
authors.lastname: Joosten
authors.affiliation: Department of Obstetrics and Prenatal Medicine, Erasmus Medical Centre, Rotterdam, the Netherlands.|Foundation of Prenatal Screening South-West, Rotterdam, the Netherlands.
authors.forename: M F C M
authors.initials: MF
authors.lastname: Knapen
authors.affiliation: Department of Clinical Genetics.
authors.forename: D
authors.initials: D
authors.lastname: Van Opstal
authors.affiliation: Department of Clinical Genetics.
authors.forename: M I
authors.initials: MI
authors.lastname: Srebniak
authors.affiliation: Department Clinical Genetics, Leiden University Medical Centre, Leiden, the Netherlands.
authors.forename: A
authors.initials: A
authors.lastname: Tibben
authors.affiliation: Department of Clinical Genetics.
authors.forename: R J H
authors.initials: RJ
authors.lastname: Galjaard
mesh_terms: D000328:Adult; D000782:Aneuploidy; D003657:Decision Making; D005260:Female; D005820:Genetic Testing; D006801:Humans; D007621:Karyotyping; D008297:Male; D008875:Middle Aged; D020411:Oligonucleotide Array Sequence Analysis; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000523:psychology*; D012306:Risk; D011795:Surveys and Questionnaires
keywords: individualised choice; invasive prenatal genetic testing; microarray; prenatal diagnosis; susceptibility loci; whole genome array