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Prenatal diagnosis of susceptibility loci for neurodevelopmental disorders – genetic counseling and pregnancy outcome in 57 cases
Author(s) -
Govaerts Lutgarde,
Srebniak Malgorzata,
Diderich Karin,
Joosten Marieke,
Riedijk Sam,
Knapen Maarten,
Go Attie,
Papatsonis Dimitri,
Graaf Katja,
Toolenaar Toon,
Steen Sanne,
Huijbregts Gido,
Knijnenburg Jeroen,
Vries Femke,
Van Opstal Diane,
Galjaard RobertJan
Publication year - 2017
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.4979
Subject(s) - pregnancy , referral , genetic counseling , medicine , obstetrics , prenatal diagnosis , genetic testing , pediatrics , fetus , family medicine , genetics , biology
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.