title: The Psychological Challenges of Replacing Conventional Karyotyping with Genomic SNP Array Analysis in Prenatal Testing.
abstract: Pregnant couples tend to prefer a maximum of information about the health of their fetus. Therefore, we implemented whole genome microarray instead of conventional karyotyping (CK) for all indications for prenatal diagnosis (PND). The array detects more clinically relevant anomalies, including early onset disorders, not related to the indication and more genetic anomalies of yet unquantifiable risk, so-called susceptibility loci (SL) for mainly neurodevelopmental disorders. This manuscript highlights the psychological challenges in prenatal genetic counselling when using the array and provides counselling suggestions. First, we suggest that pre-test decision counselling should emphasize deliberation about what pregnant couples wish to learn about the future health of their fetus more than information about possible outcomes. Second, pregnant couples need support in dealing with SL. Therefore, in order to consider the SL in a proportionate perspective, the presence of phenotypes associated with SL in the family, the incidence of a particular SL in control populations and in postnatally ascertained patients needs highlighting during post-test genetic counselling. Finally, the decision that couples need to make about the course of their pregnancy is more complicated when the expected phenotype is variable and not quantifiable. Therefore, during post-test psychological counseling, couples should concretize the options of continuing and ending their pregnancy; all underlying feelings and thoughts should be made explicit, as well as the couple's resources, in order to attain adequate decision-making. As such, pre- and post-test counselling aids pregnant couples in handling the uncertainties that may accompany offering a broader scope of genetic PND using the array.
authors.affiliation: Department of Clinical Genetics, Erasmus Medical Centre, P.O. Box 2040, Rotterdam 3000 CA, The Netherlands. s.riedijk@erasmusmc.nl.
authors.forename: Sam
authors.initials: S
authors.lastname: Riedijk
authors.affiliation: Department of Clinical Genetics, Erasmus Medical Centre, P.O. Box 2040, Rotterdam 3000 CA, The Netherlands. k.diderich@erasmusmc.nl.
authors.forename: Karin E M
authors.initials: KE
authors.lastname: Diderich
authors.affiliation: Department of Clinical Genetics, Erasmus Medical Centre, P.O. Box 2040, Rotterdam 3000 CA, The Netherlands. s.vandersteen@erasmusmc.nl.
authors.forename: Sanne L
authors.initials: SL
authors.lastname: van der Steen
authors.affiliation: Department of Clinical Genetics, Erasmus Medical Centre, P.O. Box 2040, Rotterdam 3000 CA, The Netherlands. l.c.p.govaerts@erasmusmc.nl.
authors.forename: Lutgarde C P
authors.initials: LC
authors.lastname: Govaerts
authors.affiliation: Department of Clinical Genetics, Erasmus Medical Centre, P.O. Box 2040, Rotterdam 3000 CA, The Netherlands. a.joosten@erasmusmc.nl.
authors.forename: Marieke
authors.initials: M
authors.lastname: Joosten
authors.affiliation: Department of Obstetrics and Prenatal Medicine, Erasmus Medical Centre, 3015 CN Rotterdam, The Netherlands. m.knapen@erasmusmc.nl.|Stichting Prenatale Screening Zuidwest Nederland, 3015 CN, Rotterdam, The Netherlands. m.knapen@erasmusmc.nl.
authors.forename: Maarten F C M
authors.initials: MF
authors.lastname: Knapen
authors.affiliation: Department of Clinical Genetics, Erasmus Medical Centre, P.O. Box 2040, Rotterdam 3000 CA, The Netherlands. f.a.t.devries@erasmusmc.nl.
authors.forename: Femke A T
authors.initials: FA
authors.lastname: de Vries
authors.affiliation: Department of Clinical Genetics, Erasmus Medical Centre, P.O. Box 2040, Rotterdam 3000 CA, The Netherlands. a.vanopstal@erasmusmc.nl.
authors.forename: Diane
authors.initials: D
authors.lastname: van Opstal
authors.affiliation: Department of Clinical Genetics, Erasmus Medical Centre, P.O. Box 2040, Rotterdam 3000 CA, The Netherlands. a.tibben@lumc.nl.|Department Clinical Genetics, Leiden University Medical Centre, 2300 RC Leiden, The Netherlands. a.tibben@lumc.nl.
authors.forename: Aad
authors.initials: A
authors.lastname: Tibben
authors.affiliation: Department of Clinical Genetics, Erasmus Medical Centre, P.O. Box 2040, Rotterdam 3000 CA, The Netherlands. r.galjaard@erasmusmc.nl.
authors.forename: Robert-Jan H
authors.initials: RJ
authors.lastname: Galjaard
keywords: SNP array analysis; counselling challenges; prenatal diagnosis