Discordant congenital heart defects in monochorionic twins: Risk factors and proposed pathophysiology.

A six-fold increase in congenital heart defects (CHD) exists among monochorionic (MC) twins compared to singleton or dichorionic twin pregnancies. Though MC twins share an identical genotype, discordant phenotypes related to CHD and other malformations have been described, with reported rates of con...

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Autores principales:	Helia Imany-Shakibai, Ophelia Yin, Matthew R Russell, Mark Sklansky, Gary Satou, Yalda Afshar
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/1983808c63164d0f9717435c1f7a9ecd
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spelling	oai:doaj.org-article:1983808c63164d0f9717435c1f7a9ecd2021-11-25T06:19:18ZDiscordant congenital heart defects in monochorionic twins: Risk factors and proposed pathophysiology.1932-620310.1371/journal.pone.0251160https://doaj.org/article/1983808c63164d0f9717435c1f7a9ecd2021-01-01T00:00:00Zhttps://doi.org/10.1371/journal.pone.0251160https://doaj.org/toc/1932-6203A six-fold increase in congenital heart defects (CHD) exists among monochorionic (MC) twins compared to singleton or dichorionic twin pregnancies. Though MC twins share an identical genotype, discordant phenotypes related to CHD and other malformations have been described, with reported rates of concordance for various congenital anomalies at less than 20%. Our objective was to characterize the frequency and spectrum of CHD in a contemporary cohort of MC twins, coupled with genetic and clinical variables to provide insight into risk factors and pathophysiology of discordant CHD in MC twins. Retrospective analysis of all twins receiving prenatal fetal echocardiography at a single institution from January 2010 -March 2020 (N = 163) yielded 23 MC twin pairs (46 neonates) with CHD (n = 5 concordant CHD, n = 18 discordant CHD). The most common lesions were septal defects (60% and 45.5% in concordant and discordant cohorts, respectively) and right heart lesions (40% and 18.2% in concordant and discordant cohorts, respectively). Diagnostic genetic testing was abnormal for 20% of the concordant and 5.6% of the discordant pairs, with no difference in rate of abnormal genetic results between the groups (p = 0.395). No significant association was found between clinical risk factors and development of discordant CHD (p>0.05). This data demonstrates the possibility of environmental and epigenetic influences versus genotypic factors in the development of discordant CHD in monochorionic twins.Helia Imany-ShakibaiOphelia YinMatthew R RussellMark SklanskyGary SatouYalda AfsharPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 16, Iss 5, p e0251160 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Helia Imany-Shakibai Ophelia Yin Matthew R Russell Mark Sklansky Gary Satou Yalda Afshar Discordant congenital heart defects in monochorionic twins: Risk factors and proposed pathophysiology.
description	A six-fold increase in congenital heart defects (CHD) exists among monochorionic (MC) twins compared to singleton or dichorionic twin pregnancies. Though MC twins share an identical genotype, discordant phenotypes related to CHD and other malformations have been described, with reported rates of concordance for various congenital anomalies at less than 20%. Our objective was to characterize the frequency and spectrum of CHD in a contemporary cohort of MC twins, coupled with genetic and clinical variables to provide insight into risk factors and pathophysiology of discordant CHD in MC twins. Retrospective analysis of all twins receiving prenatal fetal echocardiography at a single institution from January 2010 -March 2020 (N = 163) yielded 23 MC twin pairs (46 neonates) with CHD (n = 5 concordant CHD, n = 18 discordant CHD). The most common lesions were septal defects (60% and 45.5% in concordant and discordant cohorts, respectively) and right heart lesions (40% and 18.2% in concordant and discordant cohorts, respectively). Diagnostic genetic testing was abnormal for 20% of the concordant and 5.6% of the discordant pairs, with no difference in rate of abnormal genetic results between the groups (p = 0.395). No significant association was found between clinical risk factors and development of discordant CHD (p>0.05). This data demonstrates the possibility of environmental and epigenetic influences versus genotypic factors in the development of discordant CHD in monochorionic twins.
format	article
author	Helia Imany-Shakibai Ophelia Yin Matthew R Russell Mark Sklansky Gary Satou Yalda Afshar
author_facet	Helia Imany-Shakibai Ophelia Yin Matthew R Russell Mark Sklansky Gary Satou Yalda Afshar
author_sort	Helia Imany-Shakibai
title	Discordant congenital heart defects in monochorionic twins: Risk factors and proposed pathophysiology.
title_short	Discordant congenital heart defects in monochorionic twins: Risk factors and proposed pathophysiology.
title_full	Discordant congenital heart defects in monochorionic twins: Risk factors and proposed pathophysiology.
title_fullStr	Discordant congenital heart defects in monochorionic twins: Risk factors and proposed pathophysiology.
title_full_unstemmed	Discordant congenital heart defects in monochorionic twins: Risk factors and proposed pathophysiology.
title_sort	discordant congenital heart defects in monochorionic twins: risk factors and proposed pathophysiology.
publisher	Public Library of Science (PLoS)
publishDate	2021
url	https://doaj.org/article/1983808c63164d0f9717435c1f7a9ecd
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Discordant congenital heart defects in monochorionic twins: Risk factors and proposed pathophysiology.

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