Description
In 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
Table of Contents
Newborn Screening: Advances, Challenges, and Future DirectionsNewborn Screening for Hemoglobin DisordersCystic Fibrosis Newborn ScreeningNewborn Screening of the Endocrine System: Best Practices for Evaluation of Hypothyroidism and Congenital Adrenal HyperplasiaEarly Hearing DetectionThe Case for Universal Newborn Congenital Cytomegalovirus ScreeningNewborn Pulse-Oximetry ScreeningPrenatal Genetic Diagnosis: A Guide to Screening and Diagnostic Testing OptionsGenetic Testing in the NeonateGenetics of Congenital Heart DiseaseThe Emerging Role of Genome Sequencing in Newborn Screening
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