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: 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: Abulí A; Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcelona, Spain.; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain., Antolín E; Gynecology and Obstetrics, La Paz University Hospital, Madrid, Spain., Borrell A; Gynecology and Obstetrics, Clinic Hospital of Barcelona, Barcelona, Spain., Garcia-Hoyos M; NIMGenetics Laboratory, Madrid, Spain., García Santiago F; Genetics, La Paz University Hospital, Madrid, Spain., Gómez Manjón I; Genetics, Doce de Octubre University Hospital, Madrid, Spain., Maíz N; Maternal-Fetal Medicine Research Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.; Obstetrics, Vall d'Hebron University Hospital, Barcelona, Spain., González González C; Genetics, Infanta Sofía University Hospital, San Sebastian de los Reyes, Madrid, Spain., Rodríguez-Revenga L; Biochemistry and Molecular Genetics, Clinic Hospital of Barcelona, Barcelona, Spain.; August Pi Sunyer Biomedical Research Institute (IDIBAPS), Barcelona, Spain., Valenzuena Palafoll I; Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcelona, Spain., Suela J; Genetics, Sanitas Central Laboratory, Alcobendas, Spain jsuela@sanitas.es.

المصدر: Journal of medical genetics [J Med Genet] 2024 Jul 19; Vol. 61 (8), pp. 727-733. Date of Electronic Publication: 2024 Jul 19.

نوع المنشور: Journal Article; Practice Guideline

بيانات الدورية: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Prenatal Diagnosis*/methods , Prenatal Diagnosis*/standards , High-Throughput Nucleotide Sequencing*/methods , High-Throughput Nucleotide Sequencing*/standards, Humans ; Pregnancy ; Female ; Spain ; Genetic Testing/methods ; Genetic Testing/standards ; Genetic Counseling/methods ; Genetic Counseling/standards ; Obstetrics/standards ; Obstetrics/methods ; Gynecology/standards

المؤلفون: Xue H; Medical Genetic Diagnosis and Therapy Center, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Medical University, No. 18 Daoshan Road, Gulou District, Fuzhou City, 350001, Fujian Province, China. xhuili345@163.com., Yu A; Reproductive Medicine Center, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Medical University, No. 18 Daoshan Road, Gulou District, Fuzhou City, 350001, Fujian Province, China., Chen L; Medical Genetic Diagnosis and Therapy Center, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Medical University, No. 18 Daoshan Road, Gulou District, Fuzhou City, 350001, Fujian Province, China., Guo Q; Medical Genetic Diagnosis and Therapy Center, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Medical University, No. 18 Daoshan Road, Gulou District, Fuzhou City, 350001, Fujian Province, China., Zhang L; Fujian Medical University, No. 88 Jiaotong Road, Cangshan District, Fuzhou City, 350001, Fujian Province, China., Lin N; Medical Genetic Diagnosis and Therapy Center, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Medical University, No. 18 Daoshan Road, Gulou District, Fuzhou City, 350001, Fujian Province, China., Chen X; Medical Genetic Diagnosis and Therapy Center, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Medical University, No. 18 Daoshan Road, Gulou District, Fuzhou City, 350001, Fujian Province, China., Xu L; Medical Genetic Diagnosis and Therapy Center, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Medical University, No. 18 Daoshan Road, Gulou District, Fuzhou City, 350001, Fujian Province, China. Xiliangpu@fjmu.edu.cn., Huang H; Medical Genetic Diagnosis and Therapy Center, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Medical University, No. 18 Daoshan Road, Gulou District, Fuzhou City, 350001, Fujian Province, China. hl-hai@163.com.

المصدر: Scientific reports [Sci Rep] 2024 Jul 15; Vol. 14 (1), pp. 16266. Date of Electronic Publication: 2024 Jul 15.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

مواضيع طبية MeSH: Dextrocardia*/genetics , Dextrocardia*/diagnosis , Dextrocardia*/diagnostic imaging , Exome Sequencing* , Prenatal Diagnosis*/methods, Humans ; Female ; Pregnancy ; Adult ; Tertiary Care Centers ; Fetus/abnormalities ; Genetic Testing/methods ; Ultrasonography, Prenatal ; Karyotyping

المؤلفون: Li H; Genetic Medical Center, Women and Children's Health Care Hospital of Linyi, Liyin, 276014, China., Hu J; Genetic Medical Center, Women and Children's Health Care Hospital of Linyi, Liyin, 276014, China., Wu Q; Genetic Medical Center, Women and Children's Health Care Hospital of Linyi, Liyin, 276014, China., Qiu J; Genetic Medical Center, Women and Children's Health Care Hospital of Linyi, Liyin, 276014, China., Zhang L; Genetic Medical Center, Women and Children's Health Care Hospital of Linyi, Liyin, 276014, China., Zhu J; Genetic Medical Center, Women and Children's Health Care Hospital of Linyi, Liyin, 276014, China. zhujinping870714@126.com.

المصدر: Scientific reports [Sci Rep] 2024 Jul 10; Vol. 14 (1), pp. 15920. Date of Electronic Publication: 2024 Jul 10.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

مواضيع طبية MeSH: Chromosome Aberrations* , Prenatal Diagnosis*/methods , Pregnancy Outcome* , Microarray Analysis*/methods, Humans ; Pregnancy ; Female ; Adult ; DNA Copy Number Variations ; Chromosome Disorders/diagnosis ; Chromosome Disorders/genetics ; China/epidemiology ; Fetus ; Pregnancy, High-Risk ; Maternal Age

المؤلفون: Guha S; New York Genome Center, New York, NY., Reddi HV; Department of Pathology and Laboratory Medicine, Medical College of Wisconsin, Milwaukee, WI., Aarabi M; UPMC Medical Genetics and Genomics Laboratories, UPMC Magee-Womens Hospital, Pittsburgh, PA; Departments of Pathology and Obstetrics, Gynecology, and Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, PA., DiStefano M; The Broad Institute of MIT and Harvard, Cambridge, MA., Wakeling E; GeneDx, Inc, Gaithersburg, MD., Dungan JS; Department of Obstetrics and Gynecology, Northwestern University Feinberg School of Medicine, Chicago, IL., Gregg AR; Department of Obstetrics and Gynecology, Prisma Health, Columbia, SC.

مؤلفون مشاركون: ACMG Laboratory Quality Assurance Committee. Electronic address: documents@acmg.net; American College of Medical Genetics and Genomics, Bethesda, MD.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Jul; Vol. 26 (7), pp. 101137. Date of Electronic Publication: 2024 May 30.

نوع المنشور: Journal Article; Practice Guideline

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Carrier Screening*/methods , Genetic Carrier Screening*/standards , Genomics*/methods , Genomics*/standards , Prenatal Diagnosis*/methods , Prenatal Diagnosis*/standards , Genetic Testing*/standards , Genetic Testing*/methods , Genetics, Medical*/standards, Humans ; Pregnancy ; Female ; United States ; Preconception Care/methods ; Preconception Care/standards ; Genetic Counseling/standards ; Genetic Counseling/methods

المؤلفون: Siddiqui F; Fetal and Maternal Medicine, University Hospitals of Leicester NHS Trust, UK. Electronic address: farah.siddiqui@uhl-tr.nhs.uk., Kalache K; Feto-Maternal Medicine, Sidra Medicine, Doha, Qatar; Fetal Medicine, Weill Cornell Medicine, Qatar., Ahmed B; Feto Maternal Centre, Al Markhiya Street, Doha, Qatar; Obstetrics and Gynaecology, Department of Obstetrics and Gynaecology, Qatar University, Qatar; Obstetrics and Gynecology, Weill Cornell Medicine, Qatar., Konje JC; Feto Maternal Centre, Al Markhiya Street, Doha, Qatar; Obstetrics and Gynecology, Weill Cornell Medicine, Qatar; Obstetrics and Gynaecology, Department of Health Sciences, University of Leicester, UK.

المصدر: Best practice & research. Clinical obstetrics & gynaecology [Best Pract Res Clin Obstet Gynaecol] 2024 Jul; Vol. 95, pp. 102470. Date of Electronic Publication: 2024 Mar 21.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101121582 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-1932 (Electronic) Linking ISSN: 15216934 NLM ISO Abbreviation: Best Pract Res Clin Obstet Gynaecol Subsets: MEDLINE

مواضيع طبية MeSH: Prenatal Diagnosis*/methods , Pregnancy Complications*/diagnostic imaging , Pregnancy Complications*/diagnosis, Humans ; Female ; Pregnancy ; Ultrasonography, Prenatal ; Obesity/complications ; Aneuploidy ; Obesity, Morbid/complications ; Obesity, Maternal ; Congenital Abnormalities/diagnostic imaging ; Congenital Abnormalities/diagnosis

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

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: 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