National Rapid Genome Sequencing in Neonatal Intensive Care

被引：0

作者：

Marom, Daphna ^{[1
,2
,3
]}

Mory, Adi ^{[1
,2
]}

Reytan-Miron, Sivan ^{[1
,2
]}

Amir, Yam ^{[1
,2
,3
]}

Kurolap, Alina ^{[1
,2
]}

Cohen, Julia Grinshpun ^{[4
]}

Morhi, Yocheved ^{[5
]}

Smolkin, Tatiana ^{[6
,7
]}

Cohen, Lior ^{[8
,9
]}

Zangen, Shmuel ^{[9
,10
]}

Shalata, Adel ^{[5
,11
]}

Riskin, Arieh ^{[5
,12
]}

Peleg, Amir ^{[5
,13
]}

Lavie-Nevo, Karen ^{[5
,14
]}

Mandel, Dror ^{[3
,15
]}

Chervinsky, Elana ^{[5
,16
,17
]}

Fisch, Clari Felszer ^{[5
,18
]}

Sheffer, Vered Fleisher ^{[7
,19
]}

Falik-Zaccai, Tzipora C. ^{[7
,20
]}

Rips, Jonathan ^{[21
,22
]}

Shlomai, Noa Ofek ^{[22
,23
]}

Friedman, Smadar Eventov ^{[22
,23
]}

Shporen, Calanit Hershkovich ^{[22
,24
]}

Ben-Yehoshua, Sagie Josefsberg ^{[22
,25
]}

Simmonds, Aryeh ^{[26
,27
]}

Yaacobi, Racheli Goldfarb ^{[3
,28
]}

Bauer-Rusek, Sofia ^{[3
,29
]}

Omari, Hussam ^{[7
,30
]}

Weiss, Karin ^{[5
,31
]}

Hochwald, Ori ^{[5
,32
]}

Koifman, Arie ^{[9
,33
]}

Globus, Omer ^{[9
,34
]}

Batzir, Nurit Assia ^{[35
]}

Yaron, Naveh ^{[22
,36
]}

Segel, Reeval ^{[22
,37
]}

Morag, Iris ^{[3
,38
]}

Reish, Orit ^{[3
,39
]}

Eliyahu, Aviva ^{[3
,40
]}

Leibovitch, Leah ^{[3
,41
]}

Schwartz, Marina Eskin ^{[9
,42
]}

Abramsky, Ramy ^{[9
,43
]}

Hochberg, Amit ^{[5
,44
]}

Oron, Anat ^{[3
,45
]}

Banne, Ehud ^{[3
,46
]}

Portnov, Igor ^{[7
,47
]}

Samra, Nadra Nasser ^{[7
,48
]}

Singer, Amihood ^{[4
]}

Feldman, Hagit Baris ^{[1
,2
,3
]}

机构：

[1] Tel Aviv Sourasky Med Ctr, Genet Inst, Tel Aviv, Israel

[2] Tel Aviv Sourasky Med Ctr, Genom Ctr, Tel Aviv, Israel

[3] Tel Aviv Univ, Fac Med, Tel Aviv, Israel

[4] Minist Hlth, Community Genet Dept, Publ Hlth Serv, Ramat Gan, Israel

[5] Ruth & Bruce Rappaport Fac Med, Technion Israel Inst Technol, Haifa, Israel

[6] Tzafon Med Ctr, Baruch Padeh Med Ctr, Dept Neonatol, Tiberias, Israel

[7] Bar Ilan Univ, Azrieli Fac Med, Ramat Gan, Israel

[8] Barzilai Univ, Med Ctr, Genet Unit, Ashqelon, Israel

[9] Ben Gurion Univ Negev, Fac Hlth Sci, Beer Sheva, Israel

[10] Barzilai Univ, Med Ctr, Dept Neonatol, Ashqelon, Israel

[11] Bnai Zion Med Ctr, Genet Inst, Haifa, Israel

[12] Bnai Zion Med Ctr, Dept Neonatol, Haifa, Israel

[13] Carmel Hosp, Genet Inst, Haifa, Israel

[14] Carmel Hosp, Dept Neonatol, Haifa, Israel

[15] Dana Dwek Childrens Hosp, Tel Aviv Med Ctr, Dept Neonatol, Tel Aviv, Israel

[16] Emek Med Ctr, Genet Inst, Afula, Israel

[17] Emek Med Ctr, Ctr Rare Dis, Afula, Israel

[18] Emek Med Ctr, Dept Neonatol, Afula, Israel

[19] Galilee Med Ctr, Dept Neonatol, Nahariyya, Israel

[20] Galilee Med Ctr, Genet Inst, Nahariyya, Israel

[21] Hadassah Med Org, Dept Genet, Ein Kerem, Israel

[22] Hebrew Univ Jerusalem, Fac Med, Ein Kerem, Israel

[23] Hadassah Med Org, Dept Neonatol, Jerusalem, Israel

[24] Kaplan Med Ctr, Dept Neonatol, Rehovot, Israel

[25] Kaplan Med Ctr, Genet Inst, Rehovot, Israel

[26] Laniado Hosp, Dept Neonatol, Netanya, Israel

[27] Ariel Univ, Adelson Sch Med, Ariel, Israel

[28] Meir Med Ctr, Genet Inst, Kefar Sava, Israel

[29] Meir Med Ctr, Dept Neonatol, Kefar Sava, Israel

[30] St Vincent Hosp, French Hosp, Dept Neonatol, Nazareth, Israel

[31] Rambam Med Ctr, Genet Inst, Haifa, Israel

[32] Rambam Med Ctr, Dept Neonatol, Haifa, Israel

[33] Samson Assuta Univ, Genet Inst, Med Ctr, Ashdod, Israel

[34] Samson Assuta Univ, Med Ctr, Dept Neonatol, Ashdod, Israel

[35] Schneider Childrens Med Ctr Israel, Pediat Genet Unit, Petah Tiqwa, Israel

[36] Shaare Zedek Med Ctr, Dept Neonatol, Jerusalem, Israel

[37] Shaare Zedek Med Ctr, Med Genet Inst, Jerusalem, Israel

[38] Shamir Med Ctr, Dept Neonatol, Zerifin, Israel

[39] Shamir Med Ctr, Genet Inst, Zerifin, Israel

[40] Sheba Med Ctr, Danek Gertner Inst Human Genet, Tel Hashomer, Israel

[41] Sheba Med Ctr, Neonatol Dept, Tel Hashomer, Israel

[42] Soroka Univ, Genet Inst, Med Ctr, Beer Sheva, Israel

[43] Soroka Univ, Med Ctr, Dept Neonatol, Beer Sheva, Israel

[44] Hillel Yaffe Med Ctr, Dept Neonatol, Hadera, Israel

[45] Wolfson Med Ctr, Dept Neonatol, Holon, Israel

[46] Wolfson Med Ctr, Genet Inst, Hadera, Israel

[47] Ziv Med Ctr Sefat, Dept Neonatol, Safed, Israel

[48] Ziv Med Ctr, Genet Inst, Safed, Israel

来源：

OBSTETRICAL & GYNECOLOGICAL SURVEY | 2024年 / 79卷 / 08期

关键词：

D O I：

10.1097/01.ogx.0001050528.13411.3b

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

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. There have been many studies about the diagnostic potential and results of different tests, but the results of these studies are often confounded by regionor sample size. This study aimed to address some of these gaps by testing the feasibility and diagnostic efficacy of rapid triogenome sequencing for genomic diagnosis in critically ill neonates in a national health care system and to evaluate clinicalutility of this test for precision medicine and recurrence risk reduction for families.

引用

页码：452 / 454

页数：3

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