Advantages of current fetal neuroimaging and genomic technologies in prenatal diagnosis: A clinical case |
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| Affiliation: | 1. Medical Genetics Unit, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal;2. Faculty of Health Sciences, University of Beira Interior, Covilhã, Portugal;3. Centro de Diagnóstico Pré-natal, Centro Hospitalar e Universitário de, Coimbra, Portugal;1. Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Universitätsklinikum Erlangen, Institute of Human Genetics, 91054 Erlangen, Germany;2. CPDPN, Pôle mère enfant, MSP Bordeaux Bagatelle, Talence, France;3. Institute of Human Genetics, Diagnostic and Research Center for MolecularBioMedicine, Medical University of Graz, Austria;4. Institute of Medical Genetics, University of Zurich, Schlieren, Zurich, Switzerland;5. Institute of Human Genetics, University of Leipzig Medical Center, Leipzig 04103, Germany;6. Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Center of Functional Genomics, Hessische Straße 4A, 10115 Berlin, Germany;7. Service de génétique médicale, CHU de Nancy, Nancy, France;8. Laboratoire de génétique médicale, CHRU Nancy, Nancy, France;1. Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan;2. Department of Pediatrics, Graduate School of Medicine, Nagasaki University, Japan;3. Department of Pediatrics, Graduate School of Medicine, Niigata University, Japan;4. Department of Pathology, Tokyo Metropolitan Children''s Medical Center, Fuchu, Tokyo, Japan;1. Department of Pediatric Hematology and Oncology, AP-HP, Armand Trousseau Hospital, Sorbonne University, Paris, France;2. Laboratory of Normal and Pathological Lymphoid Differentiation, Institut Necker Enfants Malades (INEM), INERM UMR1151, Paris, France;3. Laboratory of Lymphocyte Activation and Susceptibility to EBV Infection, INSERM UMR1163, Imagine Institute, Paris, France;4. Université de Paris, Paris, France;5. Department of Hematology, Center Henri Becquerel, University of Rouen, INSERM UMR1245, Rouen, France;6. Department of Pediatric Hematology, AP-HP, Robert Debré Hospital, University Paris Diderot, Paris, France;1. Department of Clinical Genetics and Medicine, Kyushu University Hospital, Fukuoka, Japan;2. Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan;3. Department of Obstetrics and Gynecology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan;1. Department of Pediatrics and Adolescent Medicine, Comprehensive Center for Pediatrics and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria;2. Hopp Children''s Cancer Center (KiTZ), Heidelberg, Germany;3. Division of Pediatric Oncology, German Cancer Research Center (DKFZ) and German Cancer Consortium (DKTK), Heidelberg, Germany;4. Department of Paediatrics and Adolescent Medicine, Children and Adolescents with Cancer and Hematological Diseases, Rigshospitalet, Copenhagen, Denmark;5. Department of Paediatric Oncology and Haematology, Charité – Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt, Universität zu Berlin, Germany;6. Department of Neuropathology, Charité — Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin, Germany;7. German Cancer Consortium (DKTK), Partner Site Berlin, German Cancer Research Center (DKFZ), Heidelberg, Germany;8. Institute of Neuroradiology, Charité — Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin, Germany;9. Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands;10. Division of Neuropathology and Neurochemistry, Department of Neurology and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria;11. University of Liverpool, Liverpool, UK;12. Department of Paediatric and Adolescent Medicine, Aarhus University Hospital, Aarhus, Denmark |
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| Abstract: | The diagnosis of prenatal microcephaly, as well as the possibility of underlining a genetic cause, is becoming more frequent thanks to advances in prenatal imaging and parallel massive sequencing. One case of primary microcephaly in three sibs demonstrates how complementary diagnostic exams can help to diagnose and establish the etiology. |
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| Keywords: | Microcephaly Exome Prenatal diagnose Fetal neuroimaging |
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