National Rapid Genome Sequencing in Neonatal Intensive Care

(Abstracted from JAMA Network Open 2024;7(2):e240146 A large portion of mortality in neonatal intensive care units (NICUs) can be attributed to genetic disorders and/or birth defects; often, diagnosis of specific disorders can be difficult due to overlapping symptomology and insufficient sensitivity of tests for this age group. Next-generation sequencing has the potential to provide precision diagnosis that will assist in prognosis, lifesaving therapy, and palliative care decisions and has been shown to be highly accurate.

Authors

Publication Details

Journal
Obstetrical & Gynecological Survey
Published
2024-08-01
DOI
https://doi.org/10.1097/01.ogx.0001050528.13411.3b
Citations
1
Primary Topic
Metabolism and Genetic Disorders
Type
article
Field-Weighted Citation Impact
0.38
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National Rapid Genome Sequencing in Neonatal Intensive Care

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National Rapid Genome Sequencing in Neonatal Intensive Care

Nurit Assia Batzir, Amihood Singer, Amir Peleg, Igor Portnov, Aviva Eliyahu, Naveh Yaron, Adi Mory, Aryeh Simmonds, Arieh Riskin, Noa Ofek Shlomai, Tzipora C. Falik‐Zaccai, Karen Lavie‐Nevo, Lior Cohen, Alina Kurolap, Hussam Omari, Hagit Baris Feldman, Adel Shalata, Daphna Marom, Karin Weiss, Tatiana Smolkin, Smadar Eventov Friedman, Dror Mandel, Elana Chervinsky, Jonathan Rips, Yam Amir, Vered Fleisher Sheffer, Ori Hochwald, Omer Globus, Ehud Banne, Ramy Abramsky, Iris Morag, Calanit Hershkovich Shporen, Orit Reish, Arie Koifman, Reeval Segel, Shmuel Zangen, Sofia Bauer‐Rusek, Anat Oron, Racheli Goldfarb Yaacobi, Sivan Reytan-Miron, Yocheved Morhi, Marina Eskin Schwartz, Leah Leibovitch, Nadra Nasser Samra, Sagie Josefsberg Ben-Yehoshua, Amit Hochberg, Clari Felszer Fisch, Julia Grinshpun Cohen
article en
1 citations

Abstract

(Abstracted from JAMA Network Open 2024;7(2):e240146 A large portion of mortality in neonatal intensive care units (NICUs) can be attributed to genetic disorders and/or birth defects; often, diagnosis of specific disorders can be difficult due to overlapping symptomology and insufficient sensitivity of tests for this age group. Next-generation sequencing has the potential to provide precision diagnosis that will assist in prognosis, lifesaving therapy, and palliative care decisions and has been shown to be highly accurate.

Obstetrical & Gynecological SurveyVol. 79(8)
Good health and well-being
Openalex Percentile: Top 37%
Metabolism and Genetic Disorders
0.38
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