医学
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Maternal Sirolimus Therapy for Fetal Extensive Lymphatic Cystic Malformation: Selection Criteria, Management, and Outcomes in a Series of Six Cases
作者L. Guibaud; M. Bordas‐Fournel; S. Cabet; C. Le Vaillant; A. Bruel; T. Lefrançois; C. Megier; A. Benachi; M. Sohier; Y. Gallois; T. Simon; J.‐M. Jouannic; G. Canaud; A. Guilhem; A. Atallah; A. Fraissenon
作者单位1. Pediatric and Fetal Imaging Reference Center for Superficial Vascular Anomalies Hôpital Femme Mère Enfant Université Claude Bernard Lyon 1 Lyon‐Bron France; 2. INSERM U1151 Necker Enfants Malades Institute Paris France; 3. Multidisciplinary Center for Prenatal Diagnosis Hôpital Femme Mère Enfant Lyon‐Bron France; 4. Department of Obstetrics and Gynecology CHU Grenoble Alpes Nantes France; 5. Multidisciplinary Center for Prenatal Diagnosis CHU de Nantes Nantes France; 6. Service de Néphro‐Pédiatrie CHU de Nantes Nantes France; 7. Service d’Imagerie Pédiatrique CHU de Nantes Nantes France; 8. Multidisciplinary Center for Prenatal Diagnosis Hôpital Antoine‐Béclère AP‐HP Paris France; 9. Multidisciplinary Center for Prenatal Diagnosis Maternité Paule de Viguier CHU de Toulous Toulouse France; 10. ORL Pédiatrique Hopital Pierre Paul Riquet CHU de Toulous Toulouse France; 11. Service de Néphrologie Pédiatrique Hôpital des Enfants‐Purpan CHU de Toulous Toulouse France; 12. Multidisciplinary Center for Prenatal Diagnosis Hôpital Trousseau AP‐HP Paris France
Prenatal Phenotypic Features of Five Fetal Cases With RNU4ATAC ‐Associated Microcephalic Osteodysplastic Primordial Dwarfism Type I
作者Alexandra Liebmann; Tanja Richter; Nevena Krstić; Markus Hoopmann; Karl Oliver Kagan; Lena‐Sophie Menig‐Benzig; Simone Olivieri; Olaf Riess; Andreas Dufke
作者单位1. Institute of Medical Genetics and Applied Genomics University Hospital Tübingen Tübingen Germany; 2. Center for Rare Disease University of Tübingen Tübingen Germany; 3. MVZ Genetikum GmbH Center for Human Genetics Neu‐Ulm Germany; 4. Morsani College of Medicine University of South Florida Tampa Florida USA; 5. Department of Women's Health University of Tübingen Tübingen Germany; 6. MVZ Genetikum GmbH Center for Human Genetics Stuttgart Germany
Prenatal Presentation of ENPP1‐Associated Generalized Arterial Calcification of Infancy at 15 + 1 Weeks: A Fetal Phenotype–Genotype Report
作者Ismail Tekesin; Gunter Kerst; Loredana Delle Chiaie; April Dinwiddie; Heinz Gabriel
作者单位1. Prenatal Unit Stuttgart Stuttgart Germany; 2. Center for Congenital Heart Defects Stuttgart Pediatric Intensive Care Pulmonology and Allergology Stuttgart Germany; 3. Clinic of Obstetrics and Gynecology Olgahospital Stuttgart Germany; 4. Center for Human Genetics Tuebingen Germany
Comparison of Medium‐Coverage Whole‐Genome Sequencing and Chromosomal Microarray in Prenatal Testing of Absence of Heterozygosity
作者Mengdie Zhang; Juan Li; Chunying Ren; Yaming Liu; Wuke Bian; Xiao Han; Mengru Wang; Xiaotian Chen; Yukun Hu; Meilin Kan; Ling Liu
作者单位1. Medical Genetic and Prenatal Diagnosis Center The Third Affiliated Hospital of Zhengzhou University Zhengzhou China; 2. Department of Obstetrics The Third Affiliated Hospital of Zhengzhou University Zhengzhou China
A Simplified Workflow for the Prediction of Putative Viral Reads Using NIPT Data
作者Shabnam Shahidi; Atousa Dabiri Oskoei; Akbar Mohammadzadeh; Hessam Mirshahabi; Kamyar Mansori; Hossein Dinmohammadi; Hassan Rokni‐Zadeh
作者单位1. Department of Medical Genetics and Molecular Medicine School of Medicine Zanjan University of Medical Sciences Zanjan Iran; 2. Department of Obstetrics and Gynecology Mousavi Hospital Zanjan University of Medical Sciences Zanjan Iran; 3. Department of Microbiology and Virology School of Medicine Zanjan University of Medical Sciences Zanjan Iran; 4. Department of Biostatistics and Epidemiology School of Medicine Zanjan University of Medical Sciences Zanjan Iran; 5. Department of Medical Biotechnology School of Medicine Zanjan University of Medical Sciences Zanjan Iran
Diagnostic Testing After Positive Cell‐Free DNA Screening for Sex Chromosome Aneuploidies: Clinical and Socioeconomic Determinants
作者Blair K. Stevens; Sarah Araji; Mohamad Ali Maktabi; Randy Liu; Lauren Westerfield; Michael Wassef; Dejian Lai; Ignatia B. Van den Veyver; Meera Krishnan; Charlotte Lawrence; Siddharth K. Prakash
作者单位1. Department of Obstetrics, Gynecology, and Reproductive Sciences University of Texas Health Science Center at Houston Houston Texas USA; 2. Department of Obstetrics and Gynecology Baylor College of Medicine Houston Texas USA; 3. Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas USA; 4. John P and Kathrine G McGovern Medical School The University of Texas Health Science Center at Houston Houston Texas USA; 5. Department of Biostatistics and Data Science The University of Texas Health Science Center at Houston School of Public Health Houston Texas USA; 6. Department of Internal Medicine The University of Texas Health Science Center at Houston Houston Texas USA
Fetal Interrupted Aortic Arch and Unilateral Duplex Kidney Identified by Second Trimester Ultrasound Prompting Genetic Diagnosis of Neonatal Sclerosing Cholangitis
作者Dan‐Ping Huang; Cong‐Min Gu; Qiu‐Xia Yu; Fan Jiang; Dong‐Zhi Li
作者单位1. Department of Ultrasound Guangzhou Women and Children's Medical Center Guangzhou Medical University Guangzhou China; 2. Department of Pathology Prenatal Diagnostic Center Guangzhou Women and Children's Medical Center Guangzhou Medical University Guangzhou China; 3. Prenatal Diagnostic Center Guangzhou Women and Children's Medical Center Guangzhou Medical University Guangzhou China
Mirror Syndrome (Ballantyne Syndrome): Prenatal Diagnosis, Pathophysiology, and the Role of Fetal Therapy—A Narrative Review
作者Riccardo Tudisco; Pauline Latapie; Anita Romiti; Alexandra Benachi; Maelig Abgral; Alexandre J. Vivanti
作者单位1. Division of Obstetrics and Gynecology “Antoine Béclère” Hospital Paris‐Saclay University Hospitals APHP Clamart France; 2. Obstetrics and Obstetrical Pathology Unit Department of Women's and Child Health and Public Health Sciences Fondazione Policlinico Universitario Agostino Gemelli IRCCS Rome Italy
First‐Trimester Bilateral Choanal Atresia as a Marker of a De Novo Pathogenic KMT2D Variant Associated With BCAHH Syndrome
作者Patrik Šimják; Jan Král; Dagmar Rašková; Monika Koudová; David Stejskal
作者单位1. Department of Fetal Medicine GENNET Prague Czech Republic; 2. Department of Gynecology Obstetrics and Neonatology First Faculty of Medicine Charles University Prague Czech Republic; 3. Department of Genetics GENNET Prague Czech Republic; 4. GNTLABS By GENNET Prague Czech Republic
Identification of a Novel De Novo HECW2 Gene Pathogenic Variant in a Fetus With Cardiac Abnormalities
作者Kristina Nimchenko; Bettina Bessieres; Gihad E. Chalouhi; Antonia Pop; Vanina Castaigne; Bertrand Stos; Marie‐Paule Beaujard; Diane Roy; Daniela Laux; Tania Attie‐Bitach
作者单位1. Service de médecine génomique des maladies rares Hôpital Necker‐Enfants Malades Assistance Publique Hôpitaux de Paris (AP‐HP) Paris France; 2. Service d’Obstétrique—Maternité, Chirurgie, Médecine et Imageries fœtales Hôpital Necker‐Enfants Malades Assistance Publique Hôpitaux de Paris (AP‐HP) Paris France; 3. Centres SFFERe (Spécialistes Fœtus, Femme Enceinte et Reproduction) Boulogne‐Billancourt France; 4. Service Maternité—Obstétrique CHIC. Centre hospitalier intercommunal de Créteil Créteil France; 5. Cardiologie médicale pédiatrique Hôpital Necker‐Enfants Malades Assistance Publique Hôpitaux de Paris (AP‐HP) Paris France; 6. Laboratoire de Biologie Médicale multisites SeqOIA Paris France; 7. Université Paris Cité INSERM UMR 1163 Imagine Institute, Genetics and development of the cerebral cortex Paris France
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