“The Way We Do Things is Unsustainable”—Exploring Symptoms of Burnout Among Healthcare Professionals in Prenatal Genomics Maayke de Koning, Sarah Long, Marit de Vries, Holly Evans, Lauren Kelada, et al. Prenatal Diagnosis, 2026 Objectives This research explored a cross‐country comparison of qualitative and quantitative data assessing the experiences of prenatal genomic healthcare professionals (HCP) in Australia and the Netherlands. Method The interview script included open‐ended questions on work experience, validated scales on compassion fatigue and stress, and demographic details. Content analysis with an inductive coding approach was used for the coding and analysis of qualitative data. Quantitative data were compared between professions and countries, using a one‐way ANCOVA. Results Quantitative data were obtained from 93 participants and qualitative data from a subset of 63 participants, recruited from the departments of clinical genetics, maternal‐fetal medicine and genomic laboratories. The following themes were constructed: (1) Advancements in prenatal genomics increase diagnostic rates but cause increased workloads; (2) Benefits and drawbacks of the current healthcare system; (3) The burden of equivocality: high stakes and ambiguous findings; and (4) Multidisciplinary teamwork, support and supervision may improve working conditions. There were no significant differences in compassion fatigue between professions, but Australian HCPs experienced significantly more symptoms of burnout and secondary traumatic stress than Dutch HCPs. Conclusion Although participants had overall positive views and experiences, with high levels of job satisfaction and low levels of compassion fatigue, additional resources are required to minimize professional burnout while dealing with increasing demands.
Experiences of Dutch parents undergoing prenatal genomic testing for fetal structural anomalies: A prospective qualitative analysis Maayke A. de Koning, Sarah Long, Holly E. Evans, Lauren Kelada, Gijs W. E. Santen, et al. Journal of Genetic Counseling, 2026 Prenatal Exome Sequencing (pES) increases the diagnostic rate for genetic disorders in pregnancies with structural abnormalities and substantially impacts parental decision‐making regarding pregnancy continuation or termination. Previous qualitative research on parental experiences of pES has typically been performed several months after results were returned to parents. Moreover, parental experiences of pES might be dependent on cultural aspects and country‐specific healthcare systems. This research therefore prospectively explores experiences of families undergoing pES in the Netherlands. Expectant parents undergoing pES because of ultrasound anomalies were invited to participate with two interviews: interview T1 after counseling for genetic testing but prior to return of results and interview T2 six months after return of results. We translated a previously designed Australian interview script, used in similar research, to Dutch, including four open‐end and two multiple‐choice questions in addition to demographic details. An inductive content analysis approach was used for coding and analysis. Twelve families were interviewed at T1, of which five participants agreed to T2 follow‐up interviews. We constructed six content categories of importance: (1) Prenatal feelings of fear, uncertainty, guilt, and anxiety; (2) conflicting feelings in the face of (un)certainty; (3) overall satisfaction with genetic counseling; (4) decision‐making influenced by desire for information about their child's quality of life; (5) decision‐making influenced by reproductive options and family planning; and (6) importance of empathy, kindness, and clear communication from friends, family, and healthcare professionals. Many content categories show overlap to previous research. However, families in this cohort did not explicitly express negative opinions about waiting on results which is possibly explained by concurrently running multiple genetic testing modalities. Moreover, all participants mentioned positive experiences of the provided healthcare, partly because of swift multidisciplinary collaboration. This study highlights the value of pre‐test counseling by clinical geneticists and shows the need for close collaboration between feto‐maternal specialists, clinical geneticists, and laboratory specialists.
ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature Clara Houdayer, Kathleen Rooney, Liselot van der Laan, Céline Bris, Mariëlle Alders, et al. European Journal of Human Genetics, 2025 Rare genetic variants in ARID2 are responsible for a recently described neurodevelopmental condition called ARID2-related disorder (ARID2-RD). ARID2 belongs to PBAF, a unit of the SWI/SNF complex, which is a chromatin remodeling complex. This work aims to further delineate the phenotypic spectrum of ARID2-RD, providing clinicians with additional data for better care and aid in the future diagnosis of this condition. We obtained the genotypes and phenotypes of 27 previously unreported individuals with ARID2-RD and compared this series with findings in the literature. We also assessed peripheral blood DNA methylation profiles in individuals with ARID2-RD compared to episignatures of controls, unresolved cases, and other neurodevelopmental disorders. The main clinical features of ARID2-RD are developmental delay, speech disorders, intellectual disability (ID), behavior problems, short stature, and various dysmorphic and ectodermal features. Genome-wide differential methylation analysis revealed a global hypermethylated profile in ARID2-RD that could aid in reclassifying variants of uncertain significance. Our study doubles the number of reported individuals with ARID2 pathogenic variants to 53. It confirms loss-of-function as a pathomechanism and shows the absence of a clear genotype-phenotype correlation. We provide evidence for a unique DNA methylation episignature for ARID2-RD and further delineate the ARID2-associated phenotype.
Experiences of Dutch parents undergoing prenatal genomic testing for fetal structural anomalies: A prospective qualitative analysis MA de Koning, S Long, HE Evans, L Kelada, GWE Santen, T Roscioli, ... Journal of Genetic Counseling 35 (2), e70187 , 2026 2026
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“The Way We Do Things is Unsustainable” —Exploring Symptoms of Burnout Among Healthcare Professionals in Prenatal Genomics M de Koning, S Long, M de Vries, H Evans, L Kelada, M Haak, ... Prenatal Diagnosis , 2026 2026
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A Deep Intronic Splice Variant in COL1A1 Causing Osteogenesis Imperfecta Type II ME Schouw, CAL Ruivenkamp, TT Koopmann, GWE Santen, PGJ Nikkels, ... American Journal of Medical Genetics Part A, e63972 , 2024 2024 Citations: 1
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Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2 RJLF Lemmers, R Tawil, LM Petek, J Balog, GJ Block, GWE Santen, ... Nature genetics 44 (12), 1370-1374 , 2012 2012 Citations: 766
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Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome GWE Santen, E Aten, Y Sun, R Almomani, C Gilissen, M Nielsen, SG Kant, ... Nature genetics 44 (4), 379-380 , 2012 2012 Citations: 451
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling CV Logan, G Szabadkai, JA Sharpe, DA Parry, S Torelli, AM Childs, ... Nature genetics 46 (2), 188-193 , 2014 2014 Citations: 441
C offin–S iris Syndrome and the BAF Complex: Genotype–Phenotype Study in 63 Patients GWE Santen, E Aten, AT Vulto‐van Silfhout, C Pottinger, BWM van Bon, ... Human mutation 34 (11), 1519-1528 , 2013 2013 Citations: 273
Paternally Inherited IGF2 Mutation and Growth Restriction M Begemann, B Zirn, G Santen, E Wirthgen, L Soellner, HM Büttel, ... New England Journal of Medicine 373 (4), 349-356 , 2015 2015 Citations: 255
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De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability S Küry, GM van Woerden, T Besnard, MP Onori, X Latypova, MC Towne, ... The American Journal of Human Genetics 101 (5), 768-788 , 2017 2017 Citations: 218
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Morphine glucuronidation in preterm neonates, infants and children younger than 3 years CAJ Knibbe, EHJ Krekels, JN van den Anker, J DeJongh, GWE Santen, ... Clinical pharmacokinetics 48 (6), 371-385 , 2009 2009 Citations: 184
Skewed X-inactivation is common in the general female population E Shvetsova, A Sofronova, R Monajemi, K Gagalova, HHM Draisma, ... European Journal of Human Genetics 27 (3), 455-465 , 2019 2019 Citations: 183
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Mutations in CDC45, encoding an essential component of the pre-initiation complex, cause Meier-Gorlin syndrome and craniosynostosis AL Fenwick, M Kliszczak, F Cooper, J Murray, L Sanchez-Pulido, ... The American Journal of Human Genetics 99 (1), 125-138 , 2016 2016 Citations: 135
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