المؤلفون: Siranosian J; Department of Genetics, Stanford University School of Medicine, Stanford, California, USA., Lewis C; Population, Policy and Practice, UCL Great Ormond Street Institute of Child Health, London, UK.; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital NHS Foundation Trust, London, UK., Hill M; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital NHS Foundation Trust, London, UK.; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK., Ormond KE; Department of Genetics, Stanford University School of Medicine, Stanford, California, USA.; Stanford Center for Biomedical Ethics, Stanford University School of Medicine, Stanford, California, USA.; Health Ethics and Policy Lab, Department of Health Sciences and Technology, ETH Zurich, Zurich, Switzerland.

المصدر: Journal of genetic counseling [J Genet Couns] 2024 Jun; Vol. 33 (3), pp. 699-708. Date of Electronic Publication: 2023 Aug 30.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 9206865 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-3599 (Electronic) Linking ISSN: 10597700 NLM ISO Abbreviation: J Genet Couns Subsets: MEDLINE

مواضيع طبية MeSH: Prenatal Diagnosis*/psychology , Prenatal Diagnosis*/methods , Choice Behavior*, Humans ; Female ; Pregnancy ; Adult ; Surveys and Questionnaires ; Genetic Testing ; Patient Preference ; United States

المؤلفون: Heino A; Department of Knowledge Brokers, Finnish Institute for Health and Welfare, Mannerheimintie 166, 00270, Helsinki, Finland. anna.heino@thl.fi., Morris JK; Population Health Research Institute, St George's, University of London, London, UK., Garne E; Department of Pediatrics and Adolescent Medicine, Lillebaelt Hospital, University Hospital of Southern Denmark, Kolding, Denmark., Baldacci S; Unit of Epidemiology of Rare Diseases and Congenital Anomalies, Institute of Clinical Physiology, National Research Council, Pisa, Italy., Barisic I; Centre of Excellence for Reproductive and Regenerative Medicine, Children's Hospital Zagreb, Medical School University of Zagreb, Klaiceva 16, 10000, Zagreb, Croatia., Cavero-Carbonell C; Rare Diseases Research Unit, Foundation for the Promotion of Health and Biomedical Research in the Valencian Region, Valencia, Spain., García-Villodre L; Rare Diseases Research Unit, Foundation for the Promotion of Health and Biomedical Research in the Valencian Region, Valencia, Spain., Given J; Institute of Nursing and Health Research, Ulster University, Coleraine, UK., Jordan S; Faculty Health and Life Sciences, Swansea, Wales., Loane M; Institute of Nursing and Health Research, Ulster University, Coleraine, UK., Lutke LR; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Neville AJ; IMER Registry (Emilia Romagna Registry of Birth Defects), Center for Clinical and Epidemiological Research, University of Ferrara, 44121, Ferrara, Italy., Santoro M; Unit of Epidemiology of Rare Diseases and Congenital Anomalies, Institute of Clinical Physiology, National Research Council, Pisa, Italy., Scanlon I; Faculty Health and Life Sciences, Swansea, Wales., Tan J; Population Health Research Institute, St George's, University of London, London, UK., de Walle HEK; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Kiuru-Kuhlefelt S; Department of Knowledge Brokers, Finnish Institute for Health and Welfare, Mannerheimintie 166, 00270, Helsinki, Finland., Gissler M; Department of Knowledge Brokers, Finnish Institute for Health and Welfare, Mannerheimintie 166, 00270, Helsinki, Finland.

المصدر: Maternal and child health journal [Matern Child Health J] 2024 Jun; Vol. 28 (6), pp. 1020-1030. Date of Electronic Publication: 2024 Mar 04.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Kluwer Academic/Plenum Publishers Country of Publication: United States NLM ID: 9715672 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-6628 (Electronic) Linking ISSN: 10927875 NLM ISO Abbreviation: Matern Child Health J Subsets: MEDLINE

مواضيع طبية MeSH: Registries* , Prenatal Diagnosis*/methods , Prenatal Diagnosis*/statistics & numerical data, Humans ; Female ; Infant, Newborn ; Pregnancy ; Male ; Infant ; Cohort Studies ; Morbidity/trends ; Gestational Age ; Congenital Abnormalities/mortality ; Congenital Abnormalities/epidemiology ; Congenital Abnormalities/diagnosis ; Europe/epidemiology ; Infant Mortality/trends ; Child, Preschool ; Hernias, Diaphragmatic, Congenital/mortality ; Hernias, Diaphragmatic, Congenital/diagnosis ; Length of Stay/statistics & numerical data ; Gastroschisis/mortality ; Gastroschisis/diagnosis ; Gastroschisis/epidemiology ; Survival Rate

المؤلفون: Monier I; Université Paris Cité, Centre of Research in Epidemiology and StatisticS (CRESS), Obstetrical Perinatal and Pediatric Epidemiology Research Team (EPOPé), INSERM, INRA, Paris, France. Electronic address: isabelle.monier@inserm.fr., Hachem S; Université Paris Cité, Centre of Research in Epidemiology and StatisticS (CRESS), Obstetrical Perinatal and Pediatric Epidemiology Research Team (EPOPé), INSERM, INRA, Paris, France., Goffinet F; Université Paris Cité, Centre of Research in Epidemiology and StatisticS (CRESS), Obstetrical Perinatal and Pediatric Epidemiology Research Team (EPOPé), INSERM, INRA, Paris, France; Port-Royal Maternity Unit, Groupe hospitalier Cochin Broca Hôtel-Dieu, AP-HP, Université Paris, FHU Prema, Paris, France., Martinez-Marin A; Université Paris Cité, Centre of Research in Epidemiology and StatisticS (CRESS), Obstetrical Perinatal and Pediatric Epidemiology Research Team (EPOPé), INSERM, INRA, Paris, France., Khoshnood B; Université Paris Cité, Centre of Research in Epidemiology and StatisticS (CRESS), Obstetrical Perinatal and Pediatric Epidemiology Research Team (EPOPé), INSERM, INRA, Paris, France., Lelong N; Université Paris Cité, Centre of Research in Epidemiology and StatisticS (CRESS), Obstetrical Perinatal and Pediatric Epidemiology Research Team (EPOPé), INSERM, INRA, Paris, France.

المصدر: Journal of gynecology obstetrics and human reproduction [J Gynecol Obstet Hum Reprod] 2024 Jun; Vol. 53 (6), pp. 102780. Date of Electronic Publication: 2024 Mar 27.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Masson SAS Country of Publication: France NLM ID: 101701588 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2468-7847 (Electronic) Linking ISSN: 24687847 NLM ISO Abbreviation: J Gynecol Obstet Hum Reprod Subsets: MEDLINE

مواضيع طبية MeSH: Congenital Abnormalities*/epidemiology , Registries*/statistics & numerical data , Prenatal Diagnosis*/statistics & numerical data, Humans ; Female ; Paris/epidemiology ; Pregnancy ; Infant, Newborn ; Prevalence ; Male ; Infant Mortality/trends ; Heart Defects, Congenital/epidemiology ; Infant ; Population Surveillance ; Hypospadias/epidemiology ; Stillbirth/epidemiology ; Kidney/abnormalities ; Kidney Diseases/congenital

SCR Disease Name: Hereditary renal agenesis

المؤلفون: Gupta D; Children's Hospital Los Angeles, Department of Pediatrics, Los Angeles, California, USA., Vuong T; Keck School of Medicine of USC, Los Angeles, California, USA., Wang S; Children's Hospital Los Angeles, Division of Cardiology, Keck School of Medicine of USC, Los Angeles, California, USA., Korst LM; Childbirth Research Associates, LLC, North Hollywood, Los Angeles, California, USA., Pruetz JD; Children's Hospital Los Angeles, Division of Cardiology, Fetal Cardiology Program, Keck School of Medicine of USC, 4650 Sunset Blvd, Los Angeles, California, 90027, USA. jpruetz@chla.usc.edu.

المصدر: Pediatric cardiology [Pediatr Cardiol] 2024 Jun; Vol. 45 (5), pp. 1015-1022. Date of Electronic Publication: 2024 Apr 03.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer Verlag Country of Publication: United States NLM ID: 8003849 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1971 (Electronic) Linking ISSN: 01720643 NLM ISO Abbreviation: Pediatr Cardiol Subsets: MEDLINE

مواضيع طبية MeSH: Heart Defects, Congenital*/epidemiology , Heart Defects, Congenital*/diagnosis , COVID-19*/epidemiology , COVID-19*/diagnosis , Prenatal Diagnosis*/statistics & numerical data , Prenatal Diagnosis*/methods, Humans ; Female ; Infant, Newborn ; Pregnancy ; Male ; SARS-CoV-2 ; Retrospective Studies ; Pandemics

عنوان ترانسليتريتد: Diagnóstico prenatal de clorhidrorrea congénita: reporte de caso.

المؤلفون: Cheng Q; Department of Radiology, Wen Zhou Central Hospital, Zhe Jiang, Wen Zhou, China., Huang C; Department of Radiology, Wen Zhou Central Hospital, Zhe Jiang, Wen Zhou, China.

المصدر: Archivos argentinos de pediatria [Arch Argent Pediatr] 2024 Jun 01; Vol. 122 (3), pp. e202310167. Date of Electronic Publication: 2023 Dec 07.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Sociedad Argentina de Pediatría Country of Publication: Argentina NLM ID: 0372460 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1668-3501 (Electronic) Linking ISSN: 03250075 NLM ISO Abbreviation: Arch Argent Pediatr Subsets: MEDLINE

مواضيع طبية MeSH: Prenatal Diagnosis*/methods , Metabolism, Inborn Errors*/diagnosis , Metabolism, Inborn Errors*/genetics, Diarrhea/*congenital, Pregnancy ; Child ; Female ; Humans ; Diarrhea/etiology ; Genetic Counseling

SCR Disease Name: Congenital chloride diarrhea

المؤلفون: Wilson L; School of Medicine and Population Health, University of Sheffield, Level 4, Jessop Wing, Tree Root Walk, Sheffield, S10 2SF, UK. Louise.wilson@sheffield.ac.uk., Whitby EH; School of Medicine and Population Health, University of Sheffield, Level 4, Jessop Wing, Tree Root Walk, Sheffield, S10 2SF, UK.; Medical Imaging and Medical Physics, Sheffield Teaching Hospitals, Sheffield, UK.

المصدر: BMC medical imaging [BMC Med Imaging] 2024 May 16; Vol. 24 (1), pp. 111. Date of Electronic Publication: 2024 May 16.

نوع المنشور: Journal Article; Systematic Review; Meta-Analysis; Review

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 100968553 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2342 (Electronic) Linking ISSN: 14712342 NLM ISO Abbreviation: BMC Med Imaging Subsets: MEDLINE

مواضيع طبية MeSH: Magnetic Resonance Imaging*/methods , Prenatal Diagnosis*/methods, Humans ; Female ; Pregnancy ; Congenital Abnormalities/diagnostic imaging ; Sensitivity and Specificity ; Reproducibility of Results ; Ultrasonography, Prenatal/methods

المؤلفون: Ilangovan H; Department of Clinical Genetics, 30025 Christian Medical College and Hospital , Vellore, Tamil Nadu, India., Elangovan J; Department of Clinical Genetics, 30025 Christian Medical College and Hospital , Vellore, Tamil Nadu, India.; Department of Obstetrics and Gynecology, Government Medical College and Hospital, Tirupur, Tamil Nadu, India., Danda S; Department of Clinical Genetics, 30025 Christian Medical College and Hospital , Vellore, Tamil Nadu, India., Beck MM; Fetal Medicine Unit, Department of Obstetrics and Gynecology, 30025 Christian Medical College and Hospital , Vellore, Tamil Nadu, India., Navaneethan P; Fetal Medicine Unit, Department of Obstetrics and Gynecology, 30025 Christian Medical College and Hospital , Vellore, Tamil Nadu, India., Athiyarath R; Department of Clinical Genetics, 30025 Christian Medical College and Hospital , Vellore, Tamil Nadu, India.

المصدر: Journal of perinatal medicine [J Perinat Med] 2024 May 07; Vol. 52 (5), pp. 520-529. Date of Electronic Publication: 2024 May 07 (Print Publication: 2024).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Walter De Gruyter Country of Publication: Germany NLM ID: 0361031 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 1619-3997 (Electronic) Linking ISSN: 03005577 NLM ISO Abbreviation: J Perinat Med Subsets: MEDLINE

مواضيع طبية MeSH: Tertiary Care Centers*/statistics & numerical data , Exome Sequencing*/methods , Prenatal Diagnosis*/methods , Prenatal Diagnosis*/statistics & numerical data, Humans ; Retrospective Studies ; Female ; India/epidemiology ; Pregnancy ; Male ; Adult ; High-Throughput Nucleotide Sequencing/methods ; Genetic Diseases, Inborn/diagnosis ; Genetic Diseases, Inborn/genetics ; Genetic Diseases, Inborn/epidemiology ; Genetic Testing/methods

المؤلفون: Chen X; Fujian Medical University, Fuzhou, China.; Prenatal Diagnosis Center, Quanzhou Women's and Children's Hospital, Quanzhou, China., Jiang Y; Prenatal Diagnosis Center, Quanzhou Women's and Children's Hospital, Quanzhou, China., Zeng S; Prenatal Diagnosis Center, Quanzhou Women's and Children's Hospital, Quanzhou, China., Zhuang J; Prenatal Diagnosis Center, Quanzhou Women's and Children's Hospital, Quanzhou, China., Lin N; Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Provincial Key Laboratory of Prenatal Diagnosis and Birth Defect, Fuzhou, China.

المصدر: Birth defects research [Birth Defects Res] 2024 May; Vol. 116 (5), pp. e2351.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: John Wiley & Sons, Inc Country of Publication: United States NLM ID: 101701004 Publication Model: Print Cited Medium: Internet ISSN: 2472-1727 (Electronic) NLM ISO Abbreviation: Birth Defects Res Subsets: MEDLINE

مواضيع طبية MeSH: Nasal Bone*/diagnostic imaging , Nasal Bone*/abnormalities , Microarray Analysis*/methods , Pregnancy Trimester, Second* , Prenatal Diagnosis*/methods , DNA Copy Number Variations*/genetics , Karyotyping*/methods, Humans ; Female ; Pregnancy ; Adult ; Fetus ; Chromosome Aberrations/embryology ; Ultrasonography, Prenatal/methods ; Genetic Association Studies/methods

المؤلفون: Luo X; The Genetics Laboratory, Longgang District Maternity &Child Heathcare Hospital of Shenzhen City (Longgang Maternity and Child Institute of Shantou University Medical College), Shenzhen, Guangdong Province, China., Liu W; The Genetics Laboratory, Longgang District Maternity &Child Heathcare Hospital of Shenzhen City (Longgang Maternity and Child Institute of Shantou University Medical College), Shenzhen, Guangdong Province, China., Hu L; The Genetics Laboratory, Longgang District Maternity &Child Heathcare Hospital of Shenzhen City (Longgang Maternity and Child Institute of Shantou University Medical College), Shenzhen, Guangdong Province, China., Cong X; The Genetics Laboratory, Longgang District Maternity &Child Heathcare Hospital of Shenzhen City (Longgang Maternity and Child Institute of Shantou University Medical College), Shenzhen, Guangdong Province, China., Liu X; The Genetics Laboratory, Longgang District Maternity &Child Heathcare Hospital of Shenzhen City (Longgang Maternity and Child Institute of Shantou University Medical College), Shenzhen, Guangdong Province, China., Niu H; The Genetics Laboratory, Longgang District Maternity &Child Heathcare Hospital of Shenzhen City (Longgang Maternity and Child Institute of Shantou University Medical College), Shenzhen, Guangdong Province, China., Zhou F; The Genetics Laboratory, Longgang District Maternity &Child Heathcare Hospital of Shenzhen City (Longgang Maternity and Child Institute of Shantou University Medical College), Shenzhen, Guangdong Province, China., Li G; The Genetics Laboratory, Longgang District Maternity &Child Heathcare Hospital of Shenzhen City (Longgang Maternity and Child Institute of Shantou University Medical College), Shenzhen, Guangdong Province, China., Wen L; The Genetics Laboratory, Longgang District Maternity &Child Heathcare Hospital of Shenzhen City (Longgang Maternity and Child Institute of Shantou University Medical College), Shenzhen, Guangdong Province, China., Guo Y; Department of Community Center, Longgang District People's Hospital (The Second Affiliated Hospital of The Chinese University of Hong Kong, Shenzhen), Shenzhen, Guangdong Province, China.

المصدر: Congenital anomalies [Congenit Anom (Kyoto)] 2024 May; Vol. 64 (3), pp. 99-106. Date of Electronic Publication: 2024 Mar 08.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley on behalf of the Japanese Teratology Society Country of Publication: Australia NLM ID: 9306292 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1741-4520 (Electronic) Linking ISSN: 09143505 NLM ISO Abbreviation: Congenit Anom (Kyoto) Subsets: MEDLINE

مواضيع طبية MeSH: Aneuploidy* , Sex Chromosome Aberrations* , Prenatal Diagnosis*/methods, Humans ; Female ; Pregnancy ; Retrospective Studies ; Adult ; Noninvasive Prenatal Testing/methods ; Follow-Up Studies ; Amniocentesis

المؤلفون: Collart C; Obstetrics and Gynecology Institute, Cleveland Clinic, Cleveland, OH, USA., Craighead C; Obstetrics and Gynecology Institute, Cleveland Clinic, Cleveland, OH, USA., Yao M; Quantitative Health Sciences, Cleveland Clinic, Cleveland, OH, USA., Rose S; Department of Biomedical Informatics and Center for Biomedical Ethics and Society, Vanderbilt University Medical Center, Nashville, TN, USA., Chien EK; Obstetrics and Gynecology Institute, Cleveland Clinic, Cleveland, OH, USA., Frankel RM; Lerner College of Medicine, Cleveland Clinic, Cleveland, OH, USA., Coleridge M; Obstetrics and Gynecology Institute, Cleveland Clinic, Cleveland, OH, USA.; Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH, USA., Hu B; Quantitative Health Sciences, Cleveland Clinic, Cleveland, OH, USA., Edmonds BT; Indiana University School of Medicine, 1772 Indiana University , Indianapolis, IN, USA., Ranzini AC; Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, The MetroHealth System, Cleveland, OH, USA., Farrell RM; Obstetrics and Gynecology Institute, Cleveland Clinic, Cleveland, OH, USA.; Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH, USA.; Center for Bioethics, Clinical Transformation, Cleveland Clinic, Cleveland, OH, USA.

المصدر: Journal of perinatal medicine [J Perinat Med] 2024 Apr 29; Vol. 52 (5), pp. 467-477. Date of Electronic Publication: 2024 Apr 29 (Print Publication: 2024).

نوع المنشور: Journal Article; Randomized Controlled Trial

بيانات الدورية: Publisher: Walter De Gruyter Country of Publication: Germany NLM ID: 0361031 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 1619-3997 (Electronic) Linking ISSN: 03005577 NLM ISO Abbreviation: J Perinat Med Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Testing* , Prenatal Care*/methods , Prenatal Care*/psychology , Prenatal Diagnosis*/psychology , Prenatal Diagnosis*/methods , Conflict, Psychological*, Humans ; Female ; Pregnancy ; Adult ; Decision Making, Shared ; Decision Making