The impact of prenatal diagnosis on congenital anomaly outcomes: Data from 1997 to 2016
Autor(a) principal: | |
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Data de Publicação: | 2018 |
Outros Autores: | , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://hdl.handle.net/10400.18/5782 |
Resumo: | The term prenatal diagnosis comprises a variety of techniques aimed to determine the health and condition of the embryo or foetus. Its main goal is to identify at an early stage of the pregnancy, if possible, malformations or other conditions that could increase the risk of a negative outcome in the pregnancy. The aim of this study was to assess the impact of prenatal diagnosis in Portugal in pregnancies with congenital anomalies. A cross sectional study was implemented using data for the years 1997 to 2016 from the Portuguese registry of congenital anomalies (RENAC), a population-based registry that follows EUROCAT guidelines. Analysis was restricted to malformations that are potentially detectable by prenatal diagnosis. The effect of prenatal diagnosis on outcome (death vs live birth) was estimated using a regression model. Main results indicate that prenatal diagnosis was performed in 56.1% (n = 7605) of all registered cases. At least one malformation was detected for the first time through ultrasound (47.4%), invasive tests (5.6%) and other tests (2.2%). When analysed severe CA, 54.2% was detectible by prenatal ultrasound distributed as follows: 17.4% were diagnosed before 14 weeks of gestation, 47.6% between 14 and 23 weeks and 35.0% with 24 or more weeks of gestation. TOPFA was the option for 21.3% of these CA. Over the 20 years of analysis, there was a statistically significant increase trend in the detection rate of congenital anomalies through prenatal diagnosis compared to detection at birth or after birth (p < 0.001). After adjusting for confounding (year, maternal age, presence of more than one malformation), prenatal diagnosis was associated with more severe outcomes (TOPFA, 40.3%; Death 3.5%) and increased the risk of the pregnancy ending in foetal death (OR = 2.56; 95%CI = 2.06-3.18). These results are in accordance that more severe anomalies are more easily detected prenatally. Considering the results, it is important to raise awareness about the importance of pregnancy planning and preventing the risk factors more associated with CA. More information about prognosis for children with congenital malformations is important for parents and health professionals after prenatal detection. |
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The impact of prenatal diagnosis on congenital anomaly outcomes: Data from 1997 to 2016Congenital AnomaliesHeath ImpactPrenatal DagnosisRENACDiagnóstico PrenatalCuidados de SaúdeAnomalias CongenitasPortugalThe term prenatal diagnosis comprises a variety of techniques aimed to determine the health and condition of the embryo or foetus. Its main goal is to identify at an early stage of the pregnancy, if possible, malformations or other conditions that could increase the risk of a negative outcome in the pregnancy. The aim of this study was to assess the impact of prenatal diagnosis in Portugal in pregnancies with congenital anomalies. A cross sectional study was implemented using data for the years 1997 to 2016 from the Portuguese registry of congenital anomalies (RENAC), a population-based registry that follows EUROCAT guidelines. Analysis was restricted to malformations that are potentially detectable by prenatal diagnosis. The effect of prenatal diagnosis on outcome (death vs live birth) was estimated using a regression model. Main results indicate that prenatal diagnosis was performed in 56.1% (n = 7605) of all registered cases. At least one malformation was detected for the first time through ultrasound (47.4%), invasive tests (5.6%) and other tests (2.2%). When analysed severe CA, 54.2% was detectible by prenatal ultrasound distributed as follows: 17.4% were diagnosed before 14 weeks of gestation, 47.6% between 14 and 23 weeks and 35.0% with 24 or more weeks of gestation. TOPFA was the option for 21.3% of these CA. Over the 20 years of analysis, there was a statistically significant increase trend in the detection rate of congenital anomalies through prenatal diagnosis compared to detection at birth or after birth (p < 0.001). After adjusting for confounding (year, maternal age, presence of more than one malformation), prenatal diagnosis was associated with more severe outcomes (TOPFA, 40.3%; Death 3.5%) and increased the risk of the pregnancy ending in foetal death (OR = 2.56; 95%CI = 2.06-3.18). These results are in accordance that more severe anomalies are more easily detected prenatally. Considering the results, it is important to raise awareness about the importance of pregnancy planning and preventing the risk factors more associated with CA. More information about prognosis for children with congenital malformations is important for parents and health professionals after prenatal detection.ElsevierRepositório Científico do Instituto Nacional de SaúdeBraz, PaulaMachado, AusendaMatias Dias, Carlos2020-01-01T01:30:10Z2018-092018-09-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.18/5782engEur J Med Genet. 2018 Sep;61(9):508-512. doi: 10.1016/j.ejmg.2018.06.006. Epub 2018 Jun 141769-7212https://doi.org/10.1016/j.ejmg.2018.06.006info:eu-repo/semantics/embargoedAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-07-20T15:40:58Zoai:repositorio.insa.pt:10400.18/5782Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T18:40:20.086257Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
The impact of prenatal diagnosis on congenital anomaly outcomes: Data from 1997 to 2016 |
title |
The impact of prenatal diagnosis on congenital anomaly outcomes: Data from 1997 to 2016 |
spellingShingle |
The impact of prenatal diagnosis on congenital anomaly outcomes: Data from 1997 to 2016 Braz, Paula Congenital Anomalies Heath Impact Prenatal Dagnosis RENAC Diagnóstico Prenatal Cuidados de Saúde Anomalias Congenitas Portugal |
title_short |
The impact of prenatal diagnosis on congenital anomaly outcomes: Data from 1997 to 2016 |
title_full |
The impact of prenatal diagnosis on congenital anomaly outcomes: Data from 1997 to 2016 |
title_fullStr |
The impact of prenatal diagnosis on congenital anomaly outcomes: Data from 1997 to 2016 |
title_full_unstemmed |
The impact of prenatal diagnosis on congenital anomaly outcomes: Data from 1997 to 2016 |
title_sort |
The impact of prenatal diagnosis on congenital anomaly outcomes: Data from 1997 to 2016 |
author |
Braz, Paula |
author_facet |
Braz, Paula Machado, Ausenda Matias Dias, Carlos |
author_role |
author |
author2 |
Machado, Ausenda Matias Dias, Carlos |
author2_role |
author author |
dc.contributor.none.fl_str_mv |
Repositório Científico do Instituto Nacional de Saúde |
dc.contributor.author.fl_str_mv |
Braz, Paula Machado, Ausenda Matias Dias, Carlos |
dc.subject.por.fl_str_mv |
Congenital Anomalies Heath Impact Prenatal Dagnosis RENAC Diagnóstico Prenatal Cuidados de Saúde Anomalias Congenitas Portugal |
topic |
Congenital Anomalies Heath Impact Prenatal Dagnosis RENAC Diagnóstico Prenatal Cuidados de Saúde Anomalias Congenitas Portugal |
description |
The term prenatal diagnosis comprises a variety of techniques aimed to determine the health and condition of the embryo or foetus. Its main goal is to identify at an early stage of the pregnancy, if possible, malformations or other conditions that could increase the risk of a negative outcome in the pregnancy. The aim of this study was to assess the impact of prenatal diagnosis in Portugal in pregnancies with congenital anomalies. A cross sectional study was implemented using data for the years 1997 to 2016 from the Portuguese registry of congenital anomalies (RENAC), a population-based registry that follows EUROCAT guidelines. Analysis was restricted to malformations that are potentially detectable by prenatal diagnosis. The effect of prenatal diagnosis on outcome (death vs live birth) was estimated using a regression model. Main results indicate that prenatal diagnosis was performed in 56.1% (n = 7605) of all registered cases. At least one malformation was detected for the first time through ultrasound (47.4%), invasive tests (5.6%) and other tests (2.2%). When analysed severe CA, 54.2% was detectible by prenatal ultrasound distributed as follows: 17.4% were diagnosed before 14 weeks of gestation, 47.6% between 14 and 23 weeks and 35.0% with 24 or more weeks of gestation. TOPFA was the option for 21.3% of these CA. Over the 20 years of analysis, there was a statistically significant increase trend in the detection rate of congenital anomalies through prenatal diagnosis compared to detection at birth or after birth (p < 0.001). After adjusting for confounding (year, maternal age, presence of more than one malformation), prenatal diagnosis was associated with more severe outcomes (TOPFA, 40.3%; Death 3.5%) and increased the risk of the pregnancy ending in foetal death (OR = 2.56; 95%CI = 2.06-3.18). These results are in accordance that more severe anomalies are more easily detected prenatally. Considering the results, it is important to raise awareness about the importance of pregnancy planning and preventing the risk factors more associated with CA. More information about prognosis for children with congenital malformations is important for parents and health professionals after prenatal detection. |
publishDate |
2018 |
dc.date.none.fl_str_mv |
2018-09 2018-09-01T00:00:00Z 2020-01-01T01:30:10Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
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info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/10400.18/5782 |
url |
http://hdl.handle.net/10400.18/5782 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Eur J Med Genet. 2018 Sep;61(9):508-512. doi: 10.1016/j.ejmg.2018.06.006. Epub 2018 Jun 14 1769-7212 https://doi.org/10.1016/j.ejmg.2018.06.006 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/embargoedAccess |
eu_rights_str_mv |
embargoedAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
Elsevier |
publisher.none.fl_str_mv |
Elsevier |
dc.source.none.fl_str_mv |
reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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RCAAP |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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