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The First Registered Type 0 Spinal Muscular Atrophy Patient in Latvia: Call for Change in Prenatal Diagnostic Procedures
This case report presents the first registered patient in Latvia with type 0 spinal muscular atrophy (SMA). During the first-trimester ultrasonography of the unborn patient, an increased thickness of the nuchal fold was detected. The mother reported decreased foetal movements during the pregnancy. A...
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Published in: | Case reports in medicine 2023-06, Vol.2023, p.3480298-7 |
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description | This case report presents the first registered patient in Latvia with type 0 spinal muscular atrophy (SMA). During the first-trimester ultrasonography of the unborn patient, an increased thickness of the nuchal fold was detected. The mother reported decreased foetal movements during the pregnancy. After the boy was born, his general condition was extremely severe. The clinical signs indicated a suspected neuromuscular disorder. A precise diagnosis, type 0 SMA, was determined 7 days after birth through a newborn pilot-screening for SMA, which was conducted for all newborns whose parents consented to participate. The condition of the infant deteriorated. He had severe respiratory distress followed by multiple events leading to his death. Currently, there are only a few published case reports detailing an increased nuchal translucency (NT) measurement in association with a diagnosis of SMA in the foetus. However, an increased NT measurement is a clinically relevant sign as it can be related to genetic syndromes, foetal malformations, disruptions, and dysplasias. Since there is no cure for infants with type 0 SMA at present, it is crucial to be able to detect this disease prenatally in order to provide the best possible care for the patient and parents. This includes the provision of palliative care for the patient, among other measures. This case report highlights the prenatal signs and symptoms in relation to type 0 SMA. |
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During the first-trimester ultrasonography of the unborn patient, an increased thickness of the nuchal fold was detected. The mother reported decreased foetal movements during the pregnancy. After the boy was born, his general condition was extremely severe. The clinical signs indicated a suspected neuromuscular disorder. A precise diagnosis, type 0 SMA, was determined 7 days after birth through a newborn pilot-screening for SMA, which was conducted for all newborns whose parents consented to participate. The condition of the infant deteriorated. He had severe respiratory distress followed by multiple events leading to his death. Currently, there are only a few published case reports detailing an increased nuchal translucency (NT) measurement in association with a diagnosis of SMA in the foetus. However, an increased NT measurement is a clinically relevant sign as it can be related to genetic syndromes, foetal malformations, disruptions, and dysplasias. Since there is no cure for infants with type 0 SMA at present, it is crucial to be able to detect this disease prenatally in order to provide the best possible care for the patient and parents. This includes the provision of palliative care for the patient, among other measures. This case report highlights the prenatal signs and symptoms in relation to type 0 SMA.</description><identifier>ISSN: 1687-9627</identifier><identifier>EISSN: 1687-9635</identifier><identifier>DOI: 10.1155/2023/3480298</identifier><identifier>PMID: 37303748</identifier><language>eng</language><publisher>United States: Hindawi</publisher><subject>Age ; Atrophy ; Babies ; Births ; Cardiac arrhythmia ; Case Report ; Case reports ; Congenital diseases ; Defects ; Diagnosis ; Diagnostic imaging ; Fetuses ; Fractures ; Genes ; Heart ; Hypoglycemia ; Infants ; Life expectancy ; Medical diagnosis ; Medical prognosis ; Medical screening ; Neonates ; Neuromuscular diseases ; Newborn babies ; Palliative treatment ; Patients ; Pregnancy ; Pregnant women ; Proteins ; Spinal muscular atrophy ; Ultrasonic imaging ; White people</subject><ispartof>Case reports in medicine, 2023-06, Vol.2023, p.3480298-7</ispartof><rights>Copyright © 2023 Tīna Luīze Čupāne et al.</rights><rights>COPYRIGHT 2023 John Wiley & Sons, Inc.</rights><rights>Copyright © 2023 Tīna Luīze Čupāne et al. This is an open access article distributed under the Creative Commons Attribution License (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. https://creativecommons.org/licenses/by/4.0</rights><rights>Copyright © 2023 Tīna Luīze Čupāne et al. 2023</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c537t-f0964f8ae972957e1f099dd8e9f077672903caf5a4370b9b3fc595896ef742773</cites><orcidid>0000-0002-7219-1294 ; 0009-0007-7871-0693 ; 0000-0002-9925-2376 ; 0000-0002-7101-6929 ; 0009-0004-1136-3736 ; 0000-0001-5656-4073</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.proquest.com/docview/2824555901/fulltextPDF?pq-origsite=primo$$EPDF$$P50$$Gproquest$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.proquest.com/docview/2824555901?pq-origsite=primo$$EHTML$$P50$$Gproquest$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,881,25732,27903,27904,36991,44569,53770,53772,74873</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/37303748$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><contributor>de Carvalho, Mamede</contributor><contributor>Mamede de Carvalho</contributor><creatorcontrib>Čupāne, Tīna Luīze</creatorcontrib><creatorcontrib>Dīriks, Mikus</creatorcontrib><creatorcontrib>Tauriņa, Gita</creatorcontrib><creatorcontrib>Korņejeva, Liene</creatorcontrib><creatorcontrib>Gailīte, Linda</creatorcontrib><creatorcontrib>Mālniece, Ieva</creatorcontrib><creatorcontrib>Auzenbaha, Madara</creatorcontrib><title>The First Registered Type 0 Spinal Muscular Atrophy Patient in Latvia: Call for Change in Prenatal Diagnostic Procedures</title><title>Case reports in medicine</title><addtitle>Case Rep Med</addtitle><description>This case report presents the first registered patient in Latvia with type 0 spinal muscular atrophy (SMA). During the first-trimester ultrasonography of the unborn patient, an increased thickness of the nuchal fold was detected. The mother reported decreased foetal movements during the pregnancy. After the boy was born, his general condition was extremely severe. The clinical signs indicated a suspected neuromuscular disorder. A precise diagnosis, type 0 SMA, was determined 7 days after birth through a newborn pilot-screening for SMA, which was conducted for all newborns whose parents consented to participate. The condition of the infant deteriorated. He had severe respiratory distress followed by multiple events leading to his death. Currently, there are only a few published case reports detailing an increased nuchal translucency (NT) measurement in association with a diagnosis of SMA in the foetus. However, an increased NT measurement is a clinically relevant sign as it can be related to genetic syndromes, foetal malformations, disruptions, and dysplasias. Since there is no cure for infants with type 0 SMA at present, it is crucial to be able to detect this disease prenatally in order to provide the best possible care for the patient and parents. This includes the provision of palliative care for the patient, among other measures. This case report highlights the prenatal signs and symptoms in relation to type 0 SMA.</description><subject>Age</subject><subject>Atrophy</subject><subject>Babies</subject><subject>Births</subject><subject>Cardiac arrhythmia</subject><subject>Case Report</subject><subject>Case reports</subject><subject>Congenital diseases</subject><subject>Defects</subject><subject>Diagnosis</subject><subject>Diagnostic imaging</subject><subject>Fetuses</subject><subject>Fractures</subject><subject>Genes</subject><subject>Heart</subject><subject>Hypoglycemia</subject><subject>Infants</subject><subject>Life expectancy</subject><subject>Medical diagnosis</subject><subject>Medical prognosis</subject><subject>Medical screening</subject><subject>Neonates</subject><subject>Neuromuscular diseases</subject><subject>Newborn babies</subject><subject>Palliative treatment</subject><subject>Patients</subject><subject>Pregnancy</subject><subject>Pregnant women</subject><subject>Proteins</subject><subject>Spinal muscular atrophy</subject><subject>Ultrasonic imaging</subject><subject>White people</subject><issn>1687-9627</issn><issn>1687-9635</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2023</creationdate><recordtype>article</recordtype><sourceid>PIMPY</sourceid><sourceid>DOA</sourceid><recordid>eNp9kkGP0zAQhSMEYpfCjTOyhMQFuuvEsR3vBVWFhZWKWEE5W64zTlylcbCdhf57XFrKVkLIB1tvvnmeGU2WPc_xRZ5TelngglySssKFqB5k5zmr-FQwQh8e3wU_y56EsMaYsRLzx9kZ4QQTXlbn2c9lC-ja-hDRF2hsiOChRsvtAAijr4PtVYc-jUGPnfJoFr0b2i26VdFCH5Ht0ULFO6uu0Fx1HTLOo3mr-gZ2oVsPvYop_51VTe9CtDppTkM9eghPs0dGdQGeHe5J9u36_XL-cbr4_OFmPltMNSU8Tg0WrDSVAsELQTnkSRB1XYEwmHOWREy0MlSVhOOVWBGjqaCVYGB4WXBOJtnN3rd2ai0HbzfKb6VTVv4WnG-k8qm0DqTODdOs5EBo-rMWqqB4xWqqKa1KthLJ6-3eaxhXG6h1moFX3YnpaaS3rWzcncxxssKp1En28uDg3fcRQpRrN_o05CCLqigppQLnf6lGpbJsb1xy0xsbtJxxWrCyyPGus4t_UOnUsLHa9WBs0k8SXt1LaEF1sQ2uG6N1fTgF3-xB7V0IHsyxxRzL3dLJ3dLJw9Il_MX9sRzhP1uWgNd7oLV9rX7Y_9v9AgaC260</recordid><startdate>20230601</startdate><enddate>20230601</enddate><creator>Čupāne, Tīna Luīze</creator><creator>Dīriks, Mikus</creator><creator>Tauriņa, Gita</creator><creator>Korņejeva, Liene</creator><creator>Gailīte, Linda</creator><creator>Mālniece, Ieva</creator><creator>Auzenbaha, Madara</creator><general>Hindawi</general><general>John Wiley & Sons, Inc</general><general>Hindawi Limited</general><scope>RHU</scope><scope>RHW</scope><scope>RHX</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7QP</scope><scope>7RV</scope><scope>7TK</scope><scope>7X7</scope><scope>7XB</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9.</scope><scope>KB0</scope><scope>M0S</scope><scope>NAPCQ</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>5PM</scope><scope>DOA</scope><orcidid>https://orcid.org/0000-0002-7219-1294</orcidid><orcidid>https://orcid.org/0009-0007-7871-0693</orcidid><orcidid>https://orcid.org/0000-0002-9925-2376</orcidid><orcidid>https://orcid.org/0000-0002-7101-6929</orcidid><orcidid>https://orcid.org/0009-0004-1136-3736</orcidid><orcidid>https://orcid.org/0000-0001-5656-4073</orcidid></search><sort><creationdate>20230601</creationdate><title>The First Registered Type 0 Spinal Muscular Atrophy Patient in Latvia: Call for Change in Prenatal Diagnostic Procedures</title><author>Čupāne, Tīna Luīze ; 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During the first-trimester ultrasonography of the unborn patient, an increased thickness of the nuchal fold was detected. The mother reported decreased foetal movements during the pregnancy. After the boy was born, his general condition was extremely severe. The clinical signs indicated a suspected neuromuscular disorder. A precise diagnosis, type 0 SMA, was determined 7 days after birth through a newborn pilot-screening for SMA, which was conducted for all newborns whose parents consented to participate. The condition of the infant deteriorated. He had severe respiratory distress followed by multiple events leading to his death. Currently, there are only a few published case reports detailing an increased nuchal translucency (NT) measurement in association with a diagnosis of SMA in the foetus. However, an increased NT measurement is a clinically relevant sign as it can be related to genetic syndromes, foetal malformations, disruptions, and dysplasias. Since there is no cure for infants with type 0 SMA at present, it is crucial to be able to detect this disease prenatally in order to provide the best possible care for the patient and parents. This includes the provision of palliative care for the patient, among other measures. This case report highlights the prenatal signs and symptoms in relation to type 0 SMA.</abstract><cop>United States</cop><pub>Hindawi</pub><pmid>37303748</pmid><doi>10.1155/2023/3480298</doi><tpages>7</tpages><orcidid>https://orcid.org/0000-0002-7219-1294</orcidid><orcidid>https://orcid.org/0009-0007-7871-0693</orcidid><orcidid>https://orcid.org/0000-0002-9925-2376</orcidid><orcidid>https://orcid.org/0000-0002-7101-6929</orcidid><orcidid>https://orcid.org/0009-0004-1136-3736</orcidid><orcidid>https://orcid.org/0000-0001-5656-4073</orcidid><oa>free_for_read</oa></addata></record> |
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subjects | Age Atrophy Babies Births Cardiac arrhythmia Case Report Case reports Congenital diseases Defects Diagnosis Diagnostic imaging Fetuses Fractures Genes Heart Hypoglycemia Infants Life expectancy Medical diagnosis Medical prognosis Medical screening Neonates Neuromuscular diseases Newborn babies Palliative treatment Patients Pregnancy Pregnant women Proteins Spinal muscular atrophy Ultrasonic imaging White people |
title | The First Registered Type 0 Spinal Muscular Atrophy Patient in Latvia: Call for Change in Prenatal Diagnostic Procedures |
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