NEONATAL Genetics!! FISH?! Karyotype? Microarray? Whole Exome Sequencing?? скачать в хорошем качестве

NEONATAL Genetics!! FISH?! Karyotype? Microarray? Whole Exome Sequencing??

WHEN do we send each genetic test? What do they test for? How long do thye take to come back? What is Whole Exome sequencing (WES) and when do we use it? What about a microarray? What can we 'FISH' for? Watch this video to learn all this- in a quick and easy way!! --------------------------------------------------------------------- Do you want extra Tala Talks education? A neonatal tip a week? Access to LIVE videos? Behind the scene members-only videos? Worksheets of the videos? Do you want to decide which videos we should be publishing next? If so- join our (low-priced!) membership community and become a FEEDER GROWER!!! Join here:    / @talatalksnicu   Help us guide the future of this channel and get involved in our community! For PDF summaries of the videos, links to relevant articles (+ 50 free Multiple Choice Questions/ Answers and explanations!!), AND a bunch of other stuff, subscribe to our Neonatal Nuggets Newsletter here: https://talatalksnicu.substack.com/su... ---------------------------------------------------------------------- Please be sure to give us a like, comment about future topics, and subscribe to this channel to stay up to date on all things NICU! Also, click the notification bell after you subscribe to gain your weekly NICU knowledge as soon as it's loaded! --------------------------------------------------------------------- Dr. Tala is a board-certified neonatologist and has worked in busy level III and IV units for the past 17 years. She has won multiple teaching awards throughout her time as a neonatologist. ---------------------------------------------------------------------- References: Current Genetic Testing Tools in Neonatal Medicine Lalani, Seema R. Pediatrics & Neonatology, Volume 58, Issue 2, 111 - 121 Stark, Z., Schofield, D., Alam, K. et al. Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement. Genet Med 19, 867–874 (2017). https://doi.org/10.1038/gim.2016.221 Callahan KP, Clayton EW, Lemke AA, Chaudhari BP, Wenger TL, Lyle ANJ, Brothers KB. Ethical and Legal Issues Surrounding Genetic Testing in the NICU. Neoreviews. 2024 Mar 1;25(3):e127-e138. doi: 10.1542/neo.25-3-e127. PMID: 38425196; PMCID: PMC10998684. Wojcik, M.H., Schwartz, T.S., Thiele, K.E. et al. Infant mortality: the contribution of genetic disorders. J Perinatol 39, 1611–1619 (2019). https://doi.org/10.1038/s41372-019-04... D'Gama AM, Agrawal PB. Genomic medicine in neonatal care: progress and challenges. Eur J Hum Genet. 2023 Dec;31(12):1357-1363. doi: 10.1038/s41431-023-01464-z. Epub 2023 Oct 4. PMID: 37789085; PMCID: PMC10689757. ---------------------------------------------------------------------------- **TIMESTAMPS** 00:00 Intro 01:44 Karyotype 06:14 FISH testing 09:49 Single gene testing 12:28 Microarray 15:46 Whole Exome Sequencing (WES) ---------------------------------------------------------------------------- *Disclaimer*: This video is intended for educational purposes only and while we strive to give the most accurate information, errors may occur. Subsequently, this video should not be a replacement for medical advice.