PURPOSE: Exome sequencing (ES) is an efficient tool to diagnose genetic disorders postnatally. Recent studies show that it may have a considerable diagnostic yield in fetuses with structural anomalies on ultrasound. We report on the clinical impact of the implementation of prenatal ES (pES) for ongoing pregnancies in routine care. METHODS: We retrospectively analyzed the impact of pES on pregnancy outcome and pre- or perinatal management in the first 22 patients counseled for pES because of one or more structural anomalies on fetal ultrasound. RESULTS: In two cases, a diagnosis was made by chromosomal microarray analysis after ES counseling. The remaining 20 cases were divided in three groups: (1) pES to aid parental decision making (n = 12), (2) pES in the context of late pregnancy termination requests (n = 5), and (3) pES to guide pre- or perinatal management (n = 3). pES had a clinical impact in 75% (9/12), 40% (2/5), and 100% (3/3) respectively, showing an overall clinical impact of pES of 70% (14/20). CONCLUSION: We show that clinical implementation of pES is feasible and affects parental decision making or pre- and perinatal management supporting further implementation of ES in the prenatal setting.
PURPOSE: Exome sequencing (ES) is an efficient tool to diagnose genetic disorders postnatally. Recent studies show that it may have a considerable diagnostic yield in fetuses with structural anomalies on ultrasound. We report on the clinical impact of the implementation of prenatal ES (pES) for ongoing pregnancies in routine care. METHODS: We retrospectively analyzed the impact of pES on pregnancy outcome and pre- or perinatal management in the first 22 patients counseled for pES because of one or more structural anomalies on fetal ultrasound. RESULTS: In two cases, a diagnosis was made by chromosomal microarray analysis after ES counseling. The remaining 20 cases were divided in three groups: (1) pES to aid parental decision making (n = 12), (2) pES in the context of late pregnancy termination requests (n = 5), and (3) pES to guide pre- or perinatal management (n = 3). pES had a clinical impact in 75% (9/12), 40% (2/5), and 100% (3/3) respectively, showing an overall clinical impact of pES of 70% (14/20). CONCLUSION: We show that clinical implementation of pES is feasible and affects parental decision making or pre- and perinatal management supporting further implementation of ES in the prenatal setting.
Authors: Richard J L F Lemmers; Patrick J van der Vliet; David San Leon Granado; Nienke van der Stoep; Henk Buermans; Robin van Schendel; Joost Schimmel; Marianne de Visser; Rudy van Coster; Marc Jeanpierre; Pascal Laforet; Meena Upadhyaya; Baziel van Engelen; Sabrina Sacconi; Rabi Tawil; Nicol C Voermans; Mark Rogers; Silvère M van der Maarel Journal: Hum Mol Genet Date: 2022-03-03 Impact factor: 5.121
Authors: Maayke A de Koning; Mariëtte J V Hoffer; Esther A R Nibbeling; Emilia K Bijlsma; Menno J P Toirkens; Phebe N Adama-Scheltema; E Joanne Verweij; Marieke B Veenhof; Gijs W E Santen; Cacha M P C D Peeters-Scholte Journal: Clin Genet Date: 2021-10-19 Impact factor: 4.296
Authors: Chantal Deden; Kornelia Neveling; Dimitra Zafeiropopoulou; Christian Gilissen; Rolph Pfundt; Tuula Rinne; Nicole de Leeuw; Brigitte Faas; Thatjana Gardeitchik; Suzanne C E H Sallevelt; Aimee Paulussen; Servi J C Stevens; Esther Sikkel; Mariet W Elting; Merel C van Maarle; Karin E M Diderich; Nicole Corsten-Janssen; Klaske D Lichtenbelt; Guus Lachmeijer; Lisenka E L M Vissers; Helger G Yntema; Marcel Nelen; Ilse Feenstra; Wendy A G van Zelst-Stams Journal: Prenat Diagn Date: 2020-05-05 Impact factor: 3.050