title: The Psychological Impact of Prenatal Diagnosis and Disclosure of Susceptibility Loci: First Impressions of Parents' Experiences.
abstract: Genomic microarray may detect susceptibility loci (SL) for neurodevelopmental disorders such as autism and epilepsy, with a yet unquantifiable risk for the fetus. The prenatal disclosure of susceptibility loci is a topic of much debate. Many health care professionals fear that reporting susceptibility loci may put a psychological burden on pregnant couples. It is our policy to disclose prenatal susceptibility loci as we recognize them as actionable for prospective parents. The aim of this report was to evaluate the psychological impact of disclosing a prenatal diagnosis of susceptibility loci. The psychological impact of disclosing susceptibility loci was evaluated in the first patients who received such results. Eight out of 15 women who had a susceptibility locus disclosed and four of their partners consented to share their experiences through a telephonic evaluation (n = 12). Follow-up time ranged from 3 to 15 months after their prenatal test result. The reporting of susceptibility loci was initially 'shocking' for five parents while the other seven felt 'worried'. Ten out of 12 participants indicated they would like to be informed about the susceptibility locus again, two were unsure. Most had no enduring worries. Participants unanimously indicated that pregnant couples should have an individualized pre-test choice about susceptibility loci (non)disclosure. We observed no negative psychological impact with the prenatal diagnosis and disclosure of SL on participants. A key factor in mitigating parental anxiety with SL disclosure appears to be post-test genetic counseling. Our report confirms that pregnant women and their partners prefer an individualized choice regarding the scope of prenatal testing.
authors.affiliation: Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands. s.vandersteen@erasmusmc.nl.
authors.forename: S L
authors.initials: SL
authors.lastname: van der Steen
authors.affiliation: Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands.
authors.forename: S R
authors.initials: SR
authors.lastname: Riedijk
authors.affiliation: Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands.
authors.forename: J
authors.initials: J
authors.lastname: Verhagen-Visser
authors.affiliation: Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands.
authors.forename: L C P
authors.initials: LC
authors.lastname: Govaerts
authors.affiliation: Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands.
authors.forename: M I
authors.initials: MI
authors.lastname: Srebniak
authors.affiliation: Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands.
authors.forename: D
authors.initials: D
authors.lastname: Van Opstal
authors.affiliation: Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands.
authors.forename: M
authors.initials: M
authors.lastname: Joosten
authors.affiliation: Department of Obstetrics and Prenatal Medicine, Erasmus Medical Centre, Rotterdam, The Netherlands.|Stichting Prenatale Screening Zuidwest Nederland, Rotterdam, The Netherlands.
authors.forename: M F C M
authors.initials: MF
authors.lastname: Knapen
authors.affiliation: Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
authors.forename: A
authors.initials: A
authors.lastname: Tibben
authors.affiliation: Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands.
authors.forename: K E M
authors.initials: KE
authors.lastname: Diderich
authors.affiliation: Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands.
authors.forename: R J H
authors.initials: RJ
authors.lastname: Galjaard
mesh_terms: D000328:Adult; D056915:DNA Copy Number Variations; D030881:Disclosure; D005239:Fear; D005260:Female; D005333:Fetus; D005817:Genetic Counseling / Q000523:psychology*; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D008297:Male; D010290:Parents / Q000523:psychology*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000523:psychology*; D036301:Qualitative Research; D013315:Stress, Psychological; D055815:Young Adult
keywords: CNV; Genomic microarray; Individualized choice; Invasive prenatal diagnosis; Psychological impact; Susceptibility loci; Uncertainty; VOUS