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Survival outcomes of very low birth weight infants with trisomy 18
Trisomy 18 (T18) is one of the most commonly diagnosed aneuploidies leading to poor survival outcome. However, little is known about the dual risk of T18 and very low birth weight (VLBW, weighing
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| Published in: | American journal of medical genetics. Part A 2021-11, Vol.185 (11), p.3459-3465 |
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| Main Authors: | , , , , , , , , , |
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| cites | cdi_FETCH-LOGICAL-c3646-af3efb35b23135e6beee2aef798daabf3ad47e227cb7e0b3a91dfec1a5de1c3d3 |
| container_end_page | 3465 |
| container_issue | 11 |
| container_start_page | 3459 |
| container_title | American journal of medical genetics. Part A |
| container_volume | 185 |
| creator | Inoue, Hirosuke Matsunaga, Yuka Sawano, Toru Fujiyoshi, Junko Kinjo, Tadamune Ochiai, Masayuki Nagata, Kouji Matsuura, Toshiharu Taguchi, Tomoaki Ohga, Shouichi |
| description | Trisomy 18 (T18) is one of the most commonly diagnosed aneuploidies leading to poor survival outcome. However, little is known about the dual risk of T18 and very low birth weight (VLBW, weighing |
| doi_str_mv | 10.1002/ajmg.a.62466 |
| format | article |
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However, little is known about the dual risk of T18 and very low birth weight (VLBW, weighing <1500 g at birth). We aimed to investigate the survival and clinical features of VLBW infants with T18. In this observational cohort study, infants with T18 admitted to the neonatal intensive care unit in Kyushu University Hospital from 2000 to 2019 were eligible. Among 30 infants with T18 who were enrolled as study participants, 11 (37%) were born with VLBW. VLBW infants had lower gestational age (34.4 vs. 39.4 weeks, p < 0.01) and a higher incidence of esophageal atresia (64% vs. 11%, p < 0.01) than non‐VLBW infants. The proportions of patients who underwent any surgery (55% vs. 5%, p < 0.01) and positive pressure ventilation (82% vs. 32%, p = 0.02) were higher in VLBW than non‐VLBW infants. One‐year overall survival rate (45% vs. 26%, p = 0.32 by log‐rank test) did not differ between the two groups. In conclusion, being born at VLBW may not be fatal for infants with T18 undergoing active interventions.</description><identifier>ISSN: 1552-4825</identifier><identifier>EISSN: 1552-4833</identifier><identifier>DOI: 10.1002/ajmg.a.62466</identifier><identifier>PMID: 34415101</identifier><language>eng</language><publisher>Hoboken, USA: John Wiley & Sons, Inc</publisher><subject>active intervention ; Aneuploidy ; Birth weight ; Birth Weight - genetics ; Esophagus ; Gestational Age ; Hospitalization ; Humans ; Incidence ; Infant ; Infant Mortality ; Infant, Newborn ; Infant, Very Low Birth Weight ; Infants ; Intensive Care Units, Neonatal ; long‐term ; Low birth weight ; low birth weight infants ; Male ; mortality ; Neonates ; Survival ; Survival Rate ; Trisomy ; trisomy 18 ; Trisomy 18 Syndrome - diagnosis ; Trisomy 18 Syndrome - epidemiology ; Trisomy 18 Syndrome - genetics ; Trisomy 18 Syndrome - pathology</subject><ispartof>American journal of medical genetics. Part A, 2021-11, Vol.185 (11), p.3459-3465</ispartof><rights>2021 Wiley Periodicals LLC.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3646-af3efb35b23135e6beee2aef798daabf3ad47e227cb7e0b3a91dfec1a5de1c3d3</citedby><cites>FETCH-LOGICAL-c3646-af3efb35b23135e6beee2aef798daabf3ad47e227cb7e0b3a91dfec1a5de1c3d3</cites><orcidid>0000-0002-5804-8053</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27922,27923</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/34415101$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Inoue, Hirosuke</creatorcontrib><creatorcontrib>Matsunaga, Yuka</creatorcontrib><creatorcontrib>Sawano, Toru</creatorcontrib><creatorcontrib>Fujiyoshi, Junko</creatorcontrib><creatorcontrib>Kinjo, Tadamune</creatorcontrib><creatorcontrib>Ochiai, Masayuki</creatorcontrib><creatorcontrib>Nagata, Kouji</creatorcontrib><creatorcontrib>Matsuura, Toshiharu</creatorcontrib><creatorcontrib>Taguchi, Tomoaki</creatorcontrib><creatorcontrib>Ohga, Shouichi</creatorcontrib><title>Survival outcomes of very low birth weight infants with trisomy 18</title><title>American journal of medical genetics. Part A</title><addtitle>Am J Med Genet A</addtitle><description>Trisomy 18 (T18) is one of the most commonly diagnosed aneuploidies leading to poor survival outcome. However, little is known about the dual risk of T18 and very low birth weight (VLBW, weighing <1500 g at birth). We aimed to investigate the survival and clinical features of VLBW infants with T18. In this observational cohort study, infants with T18 admitted to the neonatal intensive care unit in Kyushu University Hospital from 2000 to 2019 were eligible. Among 30 infants with T18 who were enrolled as study participants, 11 (37%) were born with VLBW. VLBW infants had lower gestational age (34.4 vs. 39.4 weeks, p < 0.01) and a higher incidence of esophageal atresia (64% vs. 11%, p < 0.01) than non‐VLBW infants. The proportions of patients who underwent any surgery (55% vs. 5%, p < 0.01) and positive pressure ventilation (82% vs. 32%, p = 0.02) were higher in VLBW than non‐VLBW infants. One‐year overall survival rate (45% vs. 26%, p = 0.32 by log‐rank test) did not differ between the two groups. In conclusion, being born at VLBW may not be fatal for infants with T18 undergoing active interventions.</description><subject>active intervention</subject><subject>Aneuploidy</subject><subject>Birth weight</subject><subject>Birth Weight - genetics</subject><subject>Esophagus</subject><subject>Gestational Age</subject><subject>Hospitalization</subject><subject>Humans</subject><subject>Incidence</subject><subject>Infant</subject><subject>Infant Mortality</subject><subject>Infant, Newborn</subject><subject>Infant, Very Low Birth Weight</subject><subject>Infants</subject><subject>Intensive Care Units, Neonatal</subject><subject>long‐term</subject><subject>Low birth weight</subject><subject>low birth weight infants</subject><subject>Male</subject><subject>mortality</subject><subject>Neonates</subject><subject>Survival</subject><subject>Survival Rate</subject><subject>Trisomy</subject><subject>trisomy 18</subject><subject>Trisomy 18 Syndrome - diagnosis</subject><subject>Trisomy 18 Syndrome - epidemiology</subject><subject>Trisomy 18 Syndrome - genetics</subject><subject>Trisomy 18 Syndrome - pathology</subject><issn>1552-4825</issn><issn>1552-4833</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2021</creationdate><recordtype>article</recordtype><recordid>eNp90D1PwzAQBmALgWgpbMzIEgsDKf6Ik3QsFRRQEQMwW05ybl0lcbGTRv33pLR0YGDyyXr06u5F6JKSISWE3allOR-qYcTCKDpCfSoEC8KE8-PDzEQPnXm_JIQTEUenqMfDkApKaB_dvzdubdaqwLapM1uCx1bjNbgNLmyLU-PqBW7BzBc1NpVWVe1xa7q_2hlvyw2myTk60arwcLF_B-jz8eFj8hTM3qbPk_EsyHgURoHSHHTKRco45QKiFACYAh2PklypVHOVhzEwFmdpDCTlakRzDRlVIgea8ZwP0M0ud-XsVwO-lqXxGRSFqsA2XjIR8ZDx7siOXv-hS9u4qtuuUwljCU9I3Knbncqc9d6BlitnSuU2khK57VZuu5VK_nTb8at9aJOWkB_wb5kdCHegNQVs_g2T45fX6XiX-w3ZxIYi</recordid><startdate>202111</startdate><enddate>202111</enddate><creator>Inoue, Hirosuke</creator><creator>Matsunaga, Yuka</creator><creator>Sawano, Toru</creator><creator>Fujiyoshi, Junko</creator><creator>Kinjo, Tadamune</creator><creator>Ochiai, Masayuki</creator><creator>Nagata, Kouji</creator><creator>Matsuura, Toshiharu</creator><creator>Taguchi, Tomoaki</creator><creator>Ohga, Shouichi</creator><general>John Wiley & Sons, Inc</general><general>Wiley Subscription Services, Inc</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7QP</scope><scope>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>K9.</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0002-5804-8053</orcidid></search><sort><creationdate>202111</creationdate><title>Survival outcomes of very low birth weight infants with trisomy 18</title><author>Inoue, Hirosuke ; Matsunaga, Yuka ; Sawano, Toru ; Fujiyoshi, Junko ; Kinjo, Tadamune ; Ochiai, Masayuki ; Nagata, Kouji ; Matsuura, Toshiharu ; Taguchi, Tomoaki ; Ohga, Shouichi</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3646-af3efb35b23135e6beee2aef798daabf3ad47e227cb7e0b3a91dfec1a5de1c3d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2021</creationdate><topic>active intervention</topic><topic>Aneuploidy</topic><topic>Birth weight</topic><topic>Birth Weight - genetics</topic><topic>Esophagus</topic><topic>Gestational Age</topic><topic>Hospitalization</topic><topic>Humans</topic><topic>Incidence</topic><topic>Infant</topic><topic>Infant Mortality</topic><topic>Infant, Newborn</topic><topic>Infant, Very Low Birth Weight</topic><topic>Infants</topic><topic>Intensive Care Units, Neonatal</topic><topic>long‐term</topic><topic>Low birth weight</topic><topic>low birth weight infants</topic><topic>Male</topic><topic>mortality</topic><topic>Neonates</topic><topic>Survival</topic><topic>Survival Rate</topic><topic>Trisomy</topic><topic>trisomy 18</topic><topic>Trisomy 18 Syndrome - diagnosis</topic><topic>Trisomy 18 Syndrome - epidemiology</topic><topic>Trisomy 18 Syndrome - genetics</topic><topic>Trisomy 18 Syndrome - pathology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Inoue, Hirosuke</creatorcontrib><creatorcontrib>Matsunaga, Yuka</creatorcontrib><creatorcontrib>Sawano, Toru</creatorcontrib><creatorcontrib>Fujiyoshi, Junko</creatorcontrib><creatorcontrib>Kinjo, Tadamune</creatorcontrib><creatorcontrib>Ochiai, Masayuki</creatorcontrib><creatorcontrib>Nagata, Kouji</creatorcontrib><creatorcontrib>Matsuura, Toshiharu</creatorcontrib><creatorcontrib>Taguchi, Tomoaki</creatorcontrib><creatorcontrib>Ohga, Shouichi</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>American journal of medical genetics. Part A</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Inoue, Hirosuke</au><au>Matsunaga, Yuka</au><au>Sawano, Toru</au><au>Fujiyoshi, Junko</au><au>Kinjo, Tadamune</au><au>Ochiai, Masayuki</au><au>Nagata, Kouji</au><au>Matsuura, Toshiharu</au><au>Taguchi, Tomoaki</au><au>Ohga, Shouichi</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Survival outcomes of very low birth weight infants with trisomy 18</atitle><jtitle>American journal of medical genetics. Part A</jtitle><addtitle>Am J Med Genet A</addtitle><date>2021-11</date><risdate>2021</risdate><volume>185</volume><issue>11</issue><spage>3459</spage><epage>3465</epage><pages>3459-3465</pages><issn>1552-4825</issn><eissn>1552-4833</eissn><abstract>Trisomy 18 (T18) is one of the most commonly diagnosed aneuploidies leading to poor survival outcome. However, little is known about the dual risk of T18 and very low birth weight (VLBW, weighing <1500 g at birth). We aimed to investigate the survival and clinical features of VLBW infants with T18. In this observational cohort study, infants with T18 admitted to the neonatal intensive care unit in Kyushu University Hospital from 2000 to 2019 were eligible. Among 30 infants with T18 who were enrolled as study participants, 11 (37%) were born with VLBW. VLBW infants had lower gestational age (34.4 vs. 39.4 weeks, p < 0.01) and a higher incidence of esophageal atresia (64% vs. 11%, p < 0.01) than non‐VLBW infants. The proportions of patients who underwent any surgery (55% vs. 5%, p < 0.01) and positive pressure ventilation (82% vs. 32%, p = 0.02) were higher in VLBW than non‐VLBW infants. One‐year overall survival rate (45% vs. 26%, p = 0.32 by log‐rank test) did not differ between the two groups. In conclusion, being born at VLBW may not be fatal for infants with T18 undergoing active interventions.</abstract><cop>Hoboken, USA</cop><pub>John Wiley & Sons, Inc</pub><pmid>34415101</pmid><doi>10.1002/ajmg.a.62466</doi><tpages>7</tpages><orcidid>https://orcid.org/0000-0002-5804-8053</orcidid></addata></record> |
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| identifier | ISSN: 1552-4825 |
| ispartof | American journal of medical genetics. Part A, 2021-11, Vol.185 (11), p.3459-3465 |
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| language | eng |
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| subjects | active intervention Aneuploidy Birth weight Birth Weight - genetics Esophagus Gestational Age Hospitalization Humans Incidence Infant Infant Mortality Infant, Newborn Infant, Very Low Birth Weight Infants Intensive Care Units, Neonatal long‐term Low birth weight low birth weight infants Male mortality Neonates Survival Survival Rate Trisomy trisomy 18 Trisomy 18 Syndrome - diagnosis Trisomy 18 Syndrome - epidemiology Trisomy 18 Syndrome - genetics Trisomy 18 Syndrome - pathology |
| title | Survival outcomes of very low birth weight infants with trisomy 18 |
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