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OverviewIn this issue of Clinics in Perinatology, guest editors Drs. Patrick Gallagher and Alex R. Kemperbring their considerable expertise to the topic of Genetics, Newborn Screening, and Inborn Errors of Metabolism. Early recognition through newborn screening is vital for detecting the 6,000 potentially affected newborns each year in the U.S., as timely treatment can prevent early death and long-term morbidity. In this issue, top experts provides important clinical updates in genetic testing, genome sequencing, and newborn screening. Contains 14 practice-oriented topics, including approach to the neonate with suspected inborn error of metabolism; prenatal genetic diagnosis; the future of clinical genomics; genetic testing in the neonate; genetics of congenital heart disease; and more Provides in-depth clinical reviews of genetics, newborn screening, and inborn errors of metabolism, offering actionable insights for clinical practice Presents the latest information on this timely, focused topic under the leadership of experienced editors in the field. Authors synthesize and distill the latest research and practice guidelines to create clinically significant, topic-based reviews Full Product DetailsAuthor: Patrick K. Gallagher (Departments of Chemistry and Materials Science and Engineering, Columbus, Ohio, USA) , Alex R. Kemper, MD (Division Chief of Primary Care Pediatrics Nationwide Childrens Hospital Professor of Pediatrics the Ohio State University College of Medicine Columbus, OH, USA)Publisher: Elsevier Health Sciences Imprint: Churchill Livingstone Weight: 0.450kg ISBN: 9780443343209ISBN 10: 0443343209 Pages: 240 Publication Date: 23 September 2025 Audience: Professional and scholarly , Professional & Vocational Format: Hardback Publisher's Status: Active Availability: Manufactured on demand We will order this item for you from a manufactured on demand supplier. Table of ContentsNewborn Screening: Advances, Challenges, and Future Directions Newborn Screening for Hemoglobin Disorders Cystic Fibrosis Newborn Screening Newborn Screening of the Endocrine System: Best Practices for Evaluation of Hypothyroidism and Congenital Adrenal Hyperplasia Early Hearing Detection The Case for Universal Newborn Congenital Cytomegalovirus Screening Newborn Pulse-Oximetry Screening Prenatal Genetic Diagnosis: A Guide to Screening and Diagnostic Testing Options Genetic Testing in the Neonate Genetics of Congenital Heart Disease The Emerging Role of Genome Sequencing in Newborn ScreeningReviewsAuthor InformationTab Content 6Author Website:Countries AvailableAll regions |
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