Prenatal diagnosis of susceptibility loci for neurodevelopmental disorders - genetic counseling and pregnancy outcome in 57 cases.

Autor: Govaerts L; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., Srebniak M; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., Diderich K; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., Joosten M; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., Riedijk S; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., Knapen M; Department of Obstetrics and Gynecology, Erasmus Medical Center, Rotterdam, The Netherlands.; Foundation Prenatal Screening Southwest region of the Netherlands, Rotterdam, The Netherlands., Go A; Department of Obstetrics and Gynecology, Erasmus Medical Center, Rotterdam, The Netherlands., Papatsonis D; Department of Obstetrics and Gynecology, Amphia Hospital, Breda, The Netherlands., de Graaf K; Department of Obstetrics and Gynecology, Reinier de Graaf Gasthuis, Delft, The Netherlands., Toolenaar T; Department of Gynecology, Albert Schweitzer Hospital Dordrecht, Dordrecht, The Netherlands., van der Steen S; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., Huijbregts G; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., Knijnenburg J; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., de Vries F; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., Van Opstal D; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., Galjaard RJ; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
Jazyk: angličtina
Zdroj: Prenatal diagnosis [Prenat Diagn] 2017 Jan; Vol. 37 (1), pp. 73-80. Date of Electronic Publication: 2016 Dec 29.
DOI: 10.1002/pd.4979
Abstrakt: 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.
(© 2016 John Wiley & Sons, Ltd.)
Databáze: MEDLINE
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