Pub Date : 2026-04-16eCollection Date: 2026-04-01DOI: 10.1515/medgen-2026-2010
Christine Fauth, Sarah Verheyen
{"title":"Prenatal diagnosis – where do we go from here?","authors":"Christine Fauth, Sarah Verheyen","doi":"10.1515/medgen-2026-2010","DOIUrl":"10.1515/medgen-2026-2010","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"38 2","pages":"87-89"},"PeriodicalIF":1.4,"publicationDate":"2026-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13099242/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147788485","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-04-16eCollection Date: 2026-04-01DOI: 10.1515/medgen-2026-2011
Heidrun Schuligoi, Herbert Juch, Philipp Klaritsch
{"title":"Discordant fetal anomalies in monochorionic multiple pregnancies.","authors":"Heidrun Schuligoi, Herbert Juch, Philipp Klaritsch","doi":"10.1515/medgen-2026-2011","DOIUrl":"10.1515/medgen-2026-2011","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"38 2","pages":"131-138"},"PeriodicalIF":1.4,"publicationDate":"2026-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13099241/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147788357","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-04-16eCollection Date: 2026-04-01DOI: 10.1515/medgen-2026-2008
Sarah F Jauch, Philipp Klaritsch
{"title":"Prenatal genetic testing and potential consequences.","authors":"Sarah F Jauch, Philipp Klaritsch","doi":"10.1515/medgen-2026-2008","DOIUrl":"10.1515/medgen-2026-2008","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"38 2","pages":"91-98"},"PeriodicalIF":1.4,"publicationDate":"2026-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13099245/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147788496","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-04-16eCollection Date: 2026-04-01DOI: 10.1515/medgen-2026-2006
Christine Fauth, Susanne Sprung, Martina Messner BSc, Renate Lunzer BSc, Irene Mutz-Dehbalaie, Patricia Döttelmayer, Karin Freund-Unsinn
{"title":"Fetal pathology meets clinical genetics – on the value of a comprehensive postmortem examination.","authors":"Christine Fauth, Susanne Sprung, Martina Messner BSc, Renate Lunzer BSc, Irene Mutz-Dehbalaie, Patricia Döttelmayer, Karin Freund-Unsinn","doi":"10.1515/medgen-2026-2006","DOIUrl":"10.1515/medgen-2026-2006","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"38 2","pages":"119-130"},"PeriodicalIF":1.4,"publicationDate":"2026-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13099246/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147788424","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-04-16eCollection Date: 2026-04-01DOI: 10.1515/medgen-2026-2012
Sarah Verheyen, Barbara Pertl, Sophie Bierbaumer, Claudius Fazelnia, Sarah Francesca Jauch, Philipp Klaritsch, Elisabeth Krampl-Bettelheim, Stefan Kühberger, Theresa Reischer, Ricarda Reiter, Iris Scharnreitner, Horst Steiner, Johannes Zschocke, Mateja Pfeifer
{"title":"Indication and diagnostic method selection for invasive prenatal genetic testing – review of the literature and conclusions of the Austrian consensus conference on prenatal genetic testing.","authors":"Sarah Verheyen, Barbara Pertl, Sophie Bierbaumer, Claudius Fazelnia, Sarah Francesca Jauch, Philipp Klaritsch, Elisabeth Krampl-Bettelheim, Stefan Kühberger, Theresa Reischer, Ricarda Reiter, Iris Scharnreitner, Horst Steiner, Johannes Zschocke, Mateja Pfeifer","doi":"10.1515/medgen-2026-2012","DOIUrl":"10.1515/medgen-2026-2012","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"38 2","pages":"99-110"},"PeriodicalIF":1.4,"publicationDate":"2026-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13099243/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147788420","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-04-16eCollection Date: 2026-04-01DOI: 10.1515/medgen-2026-2009
{"title":"Diagnosebezogene Medizin bei genetischen Erkrankungen: FindMe2care – Die Kontaktplattform für Betroffene mit seltenen genetischen Erkrankungen wurde bereits von fast 1000 PatientInnen genutzt.","authors":"","doi":"10.1515/medgen-2026-2009","DOIUrl":"10.1515/medgen-2026-2009","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"38 2","pages":"151"},"PeriodicalIF":1.4,"publicationDate":"2026-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13099240/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147788426","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-02-18eCollection Date: 2026-02-01DOI: 10.1515/medgen-2025-2046
Jan Halbritter, Matias Simons
Chronic kidney disease (CKD) represents a significant global health burden, with diverse etiologies and often complex clinical presentations. Among these, a notable subset of CKD patients present without a clear underlying cause despite extensive diagnostic evaluation. For this subgroup, the term CKDx - chronic kidney disease of unexplained cause, has recently been proposed. A major element of the diagnostic workup of CKDx is genetic testing, for which the methodology has greatly improved in the last years.
{"title":"Genetic testing in chronic kidney disease of uneXplained cause (CKDx): clinical insights and evolving diagnostic paradigms.","authors":"Jan Halbritter, Matias Simons","doi":"10.1515/medgen-2025-2046","DOIUrl":"10.1515/medgen-2025-2046","url":null,"abstract":"<p><p>Chronic kidney disease (CKD) represents a significant global health burden, with diverse etiologies and often complex clinical presentations. Among these, a notable subset of CKD patients present without a clear underlying cause despite extensive diagnostic evaluation. For this subgroup, the term CKDx - chronic kidney disease of unexplained cause, has recently been proposed. A major element of the diagnostic workup of CKDx is genetic testing, for which the methodology has greatly improved in the last years.</p>","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"38 1","pages":"21-28"},"PeriodicalIF":1.4,"publicationDate":"2026-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12910343/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146222019","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-02-18eCollection Date: 2026-02-01DOI: 10.1515/medgen-2025-2053
Alina C Hilger, Rik Westland, Julia Hoefele
Congenital anomalies of the kidney and urinary tract (CAKUT) represent a heterogeneous group of developmental disorders and are the leading cause of pediatric chronic kidney disease worldwide. The phenotypic spectrum is broad, encompassing kidney agenesis, hypodysplasia, multicystic dysplastic kidneys, vesicoureteral reflux, obstructive uropathies, and other malformations affecting the kidneys, ureters, and urethra. Advances in genetics have begun to unravel the molecular pathways underlying these diverse phenotypes, yet the complexity of CAKUT reflects contributions from both monogenic variants and multifactorial causes. This review provides an overview of the current understanding of the genetic causes of CAKUT, beginning with fundamental principles of kidney and urinary tract development, and then focusing on major discoveries in the past ten years. We aim to summarize key genetic findings, with an emphasis on genotype-phenotype correlations and developmental pathways, highlight emerging mechanisms, and discuss their implications for diagnosis, counseling, and clinical management.
{"title":"Genetics of CAKUT.","authors":"Alina C Hilger, Rik Westland, Julia Hoefele","doi":"10.1515/medgen-2025-2053","DOIUrl":"10.1515/medgen-2025-2053","url":null,"abstract":"<p><p>Congenital anomalies of the kidney and urinary tract (CAKUT) represent a heterogeneous group of developmental disorders and are the leading cause of pediatric chronic kidney disease worldwide. The phenotypic spectrum is broad, encompassing kidney agenesis, hypodysplasia, multicystic dysplastic kidneys, vesicoureteral reflux, obstructive uropathies, and other malformations affecting the kidneys, ureters, and urethra. Advances in genetics have begun to unravel the molecular pathways underlying these diverse phenotypes, yet the complexity of CAKUT reflects contributions from both monogenic variants and multifactorial causes. This review provides an overview of the current understanding of the genetic causes of CAKUT, beginning with fundamental principles of kidney and urinary tract development, and then focusing on major discoveries in the past ten years. We aim to summarize key genetic findings, with an emphasis on genotype-phenotype correlations and developmental pathways, highlight emerging mechanisms, and discuss their implications for diagnosis, counseling, and clinical management.</p>","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"38 1","pages":"3-10"},"PeriodicalIF":1.4,"publicationDate":"2026-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12910339/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146222012","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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