title: Prenatal diagnosis of susceptibility loci for neurodevelopmental disorders - genetic counseling and pregnancy outcome in 57 cases.
abstract: BACKGROUND
  Whole genome array testing not only provides an increased diagnostic yield of pathogenic causative findings, but it may also reveal so called susceptibility loci (SL) for neurodevelopmental disorders. The goal of this study was to evaluate the pregnancy outcomes in SL cases and to establish a protocol for pregnancy management, follow-up and additional investigations.
  
  
  METHODS
  Fifty seven cases were evaluated: 34 with and 23 without ultrasound anomalies at referral. Each pregnant couple received pretest counseling and extensive posttest genetic counseling.
  
  
  RESULTS
  After diagnosis of SL, parental testing and an additional ultrasound examination were offered. The severity of the ultrasound anomalies and not the diagnosis of SL was the most important factor contributing to the decision on pregnancy continuation. In the majority of cases with milder or no ultrasound anomalies, the pregnancy was continued and a normal outcome after birth was observed.
  
  
  CONCLUSIONS
  The diagnosis of a SL did not seem to be a reason for termination of pregnancy. Most patients were able to cope with the uncertainty and were interested in both prenatal and postnatal actionability of SL. Long-term follow-up is crucial to assess the actual risks for neurodevelopmental disorders, especially in families with unremarkable history. © 2016 John Wiley & Sons, Ltd.
authors.affiliation: Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
authors.forename: Lutgarde
authors.initials: L
authors.lastname: Govaerts
authors.affiliation: Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
authors.forename: Malgorzata
authors.identifier: http://orcid.org/0000-0003-3429-6156
authors.initials: M
authors.lastname: Srebniak
authors.affiliation: Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
authors.forename: Karin
authors.initials: K
authors.lastname: Diderich
authors.affiliation: Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
authors.forename: Marieke
authors.initials: M
authors.lastname: Joosten
authors.affiliation: Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
authors.forename: Sam
authors.initials: S
authors.lastname: Riedijk
authors.affiliation: Department of Obstetrics and Gynecology, Erasmus Medical Center, Rotterdam, The Netherlands.|Foundation Prenatal Screening Southwest region of the Netherlands, Rotterdam, The Netherlands.
authors.forename: Maarten
authors.initials: M
authors.lastname: Knapen
authors.affiliation: Department of Obstetrics and Gynecology, Erasmus Medical Center, Rotterdam, The Netherlands.
authors.forename: Attie
authors.initials: A
authors.lastname: Go
authors.affiliation: Department of Obstetrics and Gynecology, Amphia Hospital, Breda, The Netherlands.
authors.forename: Dimitri
authors.initials: D
authors.lastname: Papatsonis
authors.affiliation: Department of Obstetrics and Gynecology, Reinier de Graaf Gasthuis, Delft, The Netherlands.
authors.forename: Katja
authors.initials: K
authors.lastname: de Graaf
authors.affiliation: Department of Gynecology, Albert Schweitzer Hospital Dordrecht, Dordrecht, The Netherlands.
authors.forename: Toon
authors.initials: T
authors.lastname: Toolenaar
authors.affiliation: Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
authors.forename: Sanne
authors.initials: S
authors.lastname: van der Steen
authors.affiliation: Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
authors.forename: Gido
authors.initials: G
authors.lastname: Huijbregts
authors.affiliation: Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
authors.forename: Jeroen
authors.initials: J
authors.lastname: Knijnenburg
authors.affiliation: Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
authors.forename: Femke
authors.initials: F
authors.lastname: de Vries
authors.affiliation: Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
authors.forename: Diane
authors.initials: D
authors.lastname: Van Opstal
authors.affiliation: Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
authors.forename: Robert-Jan
authors.initials: RJ
authors.lastname: Galjaard
mesh_terms: D005260:Female; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D008297:Male; D065886:Neurodevelopmental Disorders / Q000235:genetics*; D011247:Pregnancy; D011256:Pregnancy Outcome; D011295:Prenatal Care; D011296:Prenatal Diagnosis; D016216:Ultrasonography, Prenatal