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

Описание: 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!!
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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.
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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.
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**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)
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*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.