Allele-specific PCR and next generation sequencing based genetic screening for Congenital Adrenal Hyperplasia in India.
Sign Up to like & getrecommendations! Published in 2021 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2021.104369
Abstract: Genetic screening of Congenital Adrenal Hyperplasia (CAH) is known to be challenging due to the complexities in CYP21A2 genotyping and has not been the first-tier diagnostic tool in routine clinical practice. Also, with the advent… read more here.
Keywords: genetic screening; screening; screening congenital; adrenal hyperplasia ... See more keywords
The value of serial newborn screening for congenital hypothyroidism using thyroxine (T4) in the neonatal intensive care unit
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Perinatology"
DOI: 10.1038/s41372-019-0400-3
Abstract: To evaluate the role of serial newborn screening of congenital hypothyroidism using thyroxine (T4) in the neonatal intensive care unit (NICU). Newborn screen results were reviewed from a single academic NICU during 2007–2016 (n = 6100). Thyroid… read more here.
Keywords: hypothyroidism; congenital hypothyroidism; screening congenital; hypothyroidism using ... See more keywords
Targeted screening for congenital cytomegalovirus: A micro‐costing analysis
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Paediatrics and Child Health"
DOI: 10.1111/jpc.16239
Abstract: We aimed to determine the cost and potential cost‐savings of delivering a targeted congenital cytomegalovirus (cCMV) screening programme through a universal newborn hearing screening (UNHS) programme to detect cCMV‐related hearing loss in infants from Victoria,… read more here.
Keywords: congenital cytomegalovirus; targeted screening; cytomegalovirus; cytomegalovirus micro ... See more keywords
Twenty Years of Neonatal Screening for Congenital Adrenal Hyperplasia in North-Eastern Italy: Role of Liquid Chromatography-Tandem Mass Spectrometry as a Second-Tier Test
Sign Up to like & getrecommendations! Published in 2022 at "Hormone Research in Paediatrics"
DOI: 10.1159/000524170
Abstract: Background: Newborn screening for congenital adrenal hyperplasia (CAH) based on 17-hydroxyprogesterone (17-OHP) concentration in dried blood spots has been taking place in North-Eastern Italy since 2001. Since 2017, liquid chromatography-tandem mass spectrometry (LC-MS/MS) has been… read more here.
Keywords: adrenal hyperplasia; second tier; congenital adrenal; tier test ... See more keywords