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.
Newborn 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 Screening
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