RESUMEN
PURPOSE: Newborn screening (NBS) programs are important for appropriate management of susceptible neonates to prevent serious clinical problems. Neonates admitted to neonatal intensive care units (NICU) are at a potentially high risk of false-positive results, and repetitive NBS after total parenteral nutrition is completely off results in delayed diagnosis. Here, we present the usefulness of a targeted next-generation sequencing (TNGS) panel to complement NBS for early diagnosis in high-risk neonates. MATERIALS AND METHODS: The TNGS panel covered 198 genes associated with actionable genetic and metabolic diseases that are typically included in NBS programs in Korea using tandem mass spectrometry. The panel was applied to 48 infants admitted to the NICU of Severance Children's Hospital between May 2017 and September 2017. The infants were not selected for suspected metabolic disorders. RESULTS: A total of 13 variants classified as likely pathogenic or pathogenic were detected in 11 (22.9%) neonates, including six genes (DHCR7, PCBD1, GAA, ALDOB, ATP7B, and GBA) associated with metabolic diseases not covered in NBS. One of the 48 infants was diagnosed with an isobutyl-CoA dehydrogenase deficiency, and false positive results of tandem mass screening were confirmed in two infants using the TNGS panel. CONCLUSION: The implementation of TNGS in conjunction with conventional NBS can allow for better management of and earlier diagnosis in susceptible infants, thus preventing the development of critical conditions in these sick infants.
Asunto(s)
Humanos , Lactante , Recién Nacido , Proteínas del Sistema Complemento , Diagnóstico Tardío , Diagnóstico , Diagnóstico Precoz , Unidades de Cuidado Intensivo Neonatal , Corea (Geográfico) , Tamizaje Masivo , Enfermedades Metabólicas , Errores Innatos del Metabolismo , Oxidorreductasas , Nutrición Parenteral Total , Espectrometría de Masas en TándemRESUMEN
Increased availability of Human Immunodeficiency Virus (HIV) screening test and more public enlightenment have resulted in more people coming forward to access counseling and testing at the HIV counseling and testing centers in Nigeria. Some of the clients however obtained indeterminate and false positive results leading to emotional disturbance and occasionally; dilemma to the attending physician. This article/case series looked at some of these situations and discussed how they were attended to