Cardio-pathogenic variants in unexplained intrauterine fetal death: a retrospective pilot study

Abstract To describe the prevalence and spectrum of cardio-pathogenic variants in singleton fetuses after unexplained intrauterine fetal death (IUFD). DNA from post-mortem fibroblastic tissue samples of 16 fetuses after unexplained IUFD was retrieved at two tertiary university hospitals for clinical...

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Autores principales:	Dana A. Muin, Martina Kollmann, Jasmin Blatterer, Gregor Hoermann, Peter W. Husslein, Ingrid Lafer, Erwin Petek, Thomas Schwarzbraun
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/7c8951d49a3b43fd88e49c8a1aa45730
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spelling	oai:doaj.org-article:7c8951d49a3b43fd88e49c8a1aa457302021-12-02T14:02:55ZCardio-pathogenic variants in unexplained intrauterine fetal death: a retrospective pilot study10.1038/s41598-021-85893-02045-2322https://doaj.org/article/7c8951d49a3b43fd88e49c8a1aa457302021-03-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-85893-0https://doaj.org/toc/2045-2322Abstract To describe the prevalence and spectrum of cardio-pathogenic variants in singleton fetuses after unexplained intrauterine fetal death (IUFD). DNA from post-mortem fibroblastic tissue samples of 16 fetuses after unexplained IUFD was retrieved at two tertiary university hospitals for clinical exome sequencing with subsequent filtering of 122 cardio-specific genes to elucidate underlying cardio-pathogenic variants. In total, we included 12 (75%) male and four (25%) female fetuses who were stillborn at a median gestational age of 34+6 (23+2–40+5) weeks. In two (12.5%) fetuses no cardio-pathogenic variants were found. In 14 (87.5%) fetuses, overall 33 variants were detected in 22 cardio-specific genes, involving 14 (63.63%) genes associated with cardiomyopathy, six (27.27%) arrhythmogenic susceptibility genes and two (9.09%) arrhythmia and cardiomyopathy associated genes. Among the 33 variants, five (15.2%) were classified as likely benign according to the American College of Medical Genetics and Genomics; 28 (84.8%) variants were considered as variants of uncertain significance. Compared to a cohort of explained IUFDs, the cases with and without fetal variants in cardiac genes differed not significantly regarding maternal age, previous history of stillbirth, time of stillbirth or fetal sex. Unexplained stillbirth may be caused by cardio-genetic pathologies, yet a high number of variants of uncertain significance merit a more detailed post-mortem examination including family segregation analysis.Dana A. MuinMartina KollmannJasmin BlattererGregor HoermannPeter W. HussleinIngrid LaferErwin PetekThomas SchwarzbraunNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-8 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Dana A. Muin Martina Kollmann Jasmin Blatterer Gregor Hoermann Peter W. Husslein Ingrid Lafer Erwin Petek Thomas Schwarzbraun Cardio-pathogenic variants in unexplained intrauterine fetal death: a retrospective pilot study
description	Abstract To describe the prevalence and spectrum of cardio-pathogenic variants in singleton fetuses after unexplained intrauterine fetal death (IUFD). DNA from post-mortem fibroblastic tissue samples of 16 fetuses after unexplained IUFD was retrieved at two tertiary university hospitals for clinical exome sequencing with subsequent filtering of 122 cardio-specific genes to elucidate underlying cardio-pathogenic variants. In total, we included 12 (75%) male and four (25%) female fetuses who were stillborn at a median gestational age of 34+6 (23+2–40+5) weeks. In two (12.5%) fetuses no cardio-pathogenic variants were found. In 14 (87.5%) fetuses, overall 33 variants were detected in 22 cardio-specific genes, involving 14 (63.63%) genes associated with cardiomyopathy, six (27.27%) arrhythmogenic susceptibility genes and two (9.09%) arrhythmia and cardiomyopathy associated genes. Among the 33 variants, five (15.2%) were classified as likely benign according to the American College of Medical Genetics and Genomics; 28 (84.8%) variants were considered as variants of uncertain significance. Compared to a cohort of explained IUFDs, the cases with and without fetal variants in cardiac genes differed not significantly regarding maternal age, previous history of stillbirth, time of stillbirth or fetal sex. Unexplained stillbirth may be caused by cardio-genetic pathologies, yet a high number of variants of uncertain significance merit a more detailed post-mortem examination including family segregation analysis.
format	article
author	Dana A. Muin Martina Kollmann Jasmin Blatterer Gregor Hoermann Peter W. Husslein Ingrid Lafer Erwin Petek Thomas Schwarzbraun
author_facet	Dana A. Muin Martina Kollmann Jasmin Blatterer Gregor Hoermann Peter W. Husslein Ingrid Lafer Erwin Petek Thomas Schwarzbraun
author_sort	Dana A. Muin
title	Cardio-pathogenic variants in unexplained intrauterine fetal death: a retrospective pilot study
title_short	Cardio-pathogenic variants in unexplained intrauterine fetal death: a retrospective pilot study
title_full	Cardio-pathogenic variants in unexplained intrauterine fetal death: a retrospective pilot study
title_fullStr	Cardio-pathogenic variants in unexplained intrauterine fetal death: a retrospective pilot study
title_full_unstemmed	Cardio-pathogenic variants in unexplained intrauterine fetal death: a retrospective pilot study
title_sort	cardio-pathogenic variants in unexplained intrauterine fetal death: a retrospective pilot study
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/7c8951d49a3b43fd88e49c8a1aa45730
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Cardio-pathogenic variants in unexplained intrauterine fetal death: a retrospective pilot study

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