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Prenatal Diagnosis by Array Comparative Genomic Hybridization in Fetuses with Cardiac Abnormalities

Congenital heart defects (CHDs) appear in 8–10 out of 1000 live born newborns and are one of the most common causes of deaths. In fetuses, the congenital heart defects are found even 3–5 times more often. Currently, microarray comparative genomic hybridization (array CGH) is recommended by worldwide...

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Autores principales: Kowalczyk, Katarzyna, Bartnik-Głaska, Magdalena, Smyk, Marta, Plaskota, Izabela, Bernaciak, Joanna, Kędzior, Marta, Wiśniowiecka-Kowalnik, Barbara, Jakubów-Durska, Krystyna, Braun-Walicka, Natalia, Barczyk, Artur, Geremek, Maciej, Castañeda, Jennifer, Kutkowska-Kaźmierczak, Anna, Własienko, Paweł, Dębska, Marzena, Kucińska-Chahwan, Anna, Roszkowski, Tomasz, Kozłowski, Szymon, Mikulska, Boyana, Issat, Tadeusz, Obersztyn, Ewa, Nowakowska, Beata Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8701951/
https://www.ncbi.nlm.nih.gov/pubmed/34946970
http://dx.doi.org/10.3390/genes12122021
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author Kowalczyk, Katarzyna
Bartnik-Głaska, Magdalena
Smyk, Marta
Plaskota, Izabela
Bernaciak, Joanna
Kędzior, Marta
Wiśniowiecka-Kowalnik, Barbara
Jakubów-Durska, Krystyna
Braun-Walicka, Natalia
Barczyk, Artur
Geremek, Maciej
Castañeda, Jennifer
Kutkowska-Kaźmierczak, Anna
Własienko, Paweł
Dębska, Marzena
Kucińska-Chahwan, Anna
Roszkowski, Tomasz
Kozłowski, Szymon
Mikulska, Boyana
Issat, Tadeusz
Obersztyn, Ewa
Nowakowska, Beata Anna
author_facet Kowalczyk, Katarzyna
Bartnik-Głaska, Magdalena
Smyk, Marta
Plaskota, Izabela
Bernaciak, Joanna
Kędzior, Marta
Wiśniowiecka-Kowalnik, Barbara
Jakubów-Durska, Krystyna
Braun-Walicka, Natalia
Barczyk, Artur
Geremek, Maciej
Castañeda, Jennifer
Kutkowska-Kaźmierczak, Anna
Własienko, Paweł
Dębska, Marzena
Kucińska-Chahwan, Anna
Roszkowski, Tomasz
Kozłowski, Szymon
Mikulska, Boyana
Issat, Tadeusz
Obersztyn, Ewa
Nowakowska, Beata Anna
author_sort Kowalczyk, Katarzyna
collection PubMed
description Congenital heart defects (CHDs) appear in 8–10 out of 1000 live born newborns and are one of the most common causes of deaths. In fetuses, the congenital heart defects are found even 3–5 times more often. Currently, microarray comparative genomic hybridization (array CGH) is recommended by worldwide scientific organizations as a first-line test in the prenatal diagnosis of fetuses with sonographic abnormalities, especially cardiac defects. We present the results of the application of array CGH in 484 cases with prenatally diagnosed congenital heart diseases by fetal ultrasound scanning (256 isolated CHD and 228 CHD coexisting with other malformations). We identified pathogenic aberrations and likely pathogenic genetic loci for CHD in 165 fetuses and 9 copy number variants (CNVs) of unknown clinical significance. Prenatal array-CGH is a useful method allowing the identification of all unbalanced aberrations (number and structure) with a much higher resolution than the currently applied traditional assessment techniques karyotype. Due to this ability, we identified the etiology of heart defects in 37% of cases.
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spelling pubmed-87019512021-12-24 Prenatal Diagnosis by Array Comparative Genomic Hybridization in Fetuses with Cardiac Abnormalities Kowalczyk, Katarzyna Bartnik-Głaska, Magdalena Smyk, Marta Plaskota, Izabela Bernaciak, Joanna Kędzior, Marta Wiśniowiecka-Kowalnik, Barbara Jakubów-Durska, Krystyna Braun-Walicka, Natalia Barczyk, Artur Geremek, Maciej Castañeda, Jennifer Kutkowska-Kaźmierczak, Anna Własienko, Paweł Dębska, Marzena Kucińska-Chahwan, Anna Roszkowski, Tomasz Kozłowski, Szymon Mikulska, Boyana Issat, Tadeusz Obersztyn, Ewa Nowakowska, Beata Anna Genes (Basel) Article Congenital heart defects (CHDs) appear in 8–10 out of 1000 live born newborns and are one of the most common causes of deaths. In fetuses, the congenital heart defects are found even 3–5 times more often. Currently, microarray comparative genomic hybridization (array CGH) is recommended by worldwide scientific organizations as a first-line test in the prenatal diagnosis of fetuses with sonographic abnormalities, especially cardiac defects. We present the results of the application of array CGH in 484 cases with prenatally diagnosed congenital heart diseases by fetal ultrasound scanning (256 isolated CHD and 228 CHD coexisting with other malformations). We identified pathogenic aberrations and likely pathogenic genetic loci for CHD in 165 fetuses and 9 copy number variants (CNVs) of unknown clinical significance. Prenatal array-CGH is a useful method allowing the identification of all unbalanced aberrations (number and structure) with a much higher resolution than the currently applied traditional assessment techniques karyotype. Due to this ability, we identified the etiology of heart defects in 37% of cases. MDPI 2021-12-19 /pmc/articles/PMC8701951/ /pubmed/34946970 http://dx.doi.org/10.3390/genes12122021 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Kowalczyk, Katarzyna
Bartnik-Głaska, Magdalena
Smyk, Marta
Plaskota, Izabela
Bernaciak, Joanna
Kędzior, Marta
Wiśniowiecka-Kowalnik, Barbara
Jakubów-Durska, Krystyna
Braun-Walicka, Natalia
Barczyk, Artur
Geremek, Maciej
Castañeda, Jennifer
Kutkowska-Kaźmierczak, Anna
Własienko, Paweł
Dębska, Marzena
Kucińska-Chahwan, Anna
Roszkowski, Tomasz
Kozłowski, Szymon
Mikulska, Boyana
Issat, Tadeusz
Obersztyn, Ewa
Nowakowska, Beata Anna
Prenatal Diagnosis by Array Comparative Genomic Hybridization in Fetuses with Cardiac Abnormalities
title Prenatal Diagnosis by Array Comparative Genomic Hybridization in Fetuses with Cardiac Abnormalities
title_full Prenatal Diagnosis by Array Comparative Genomic Hybridization in Fetuses with Cardiac Abnormalities
title_fullStr Prenatal Diagnosis by Array Comparative Genomic Hybridization in Fetuses with Cardiac Abnormalities
title_full_unstemmed Prenatal Diagnosis by Array Comparative Genomic Hybridization in Fetuses with Cardiac Abnormalities
title_short Prenatal Diagnosis by Array Comparative Genomic Hybridization in Fetuses with Cardiac Abnormalities
title_sort prenatal diagnosis by array comparative genomic hybridization in fetuses with cardiac abnormalities
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8701951/
https://www.ncbi.nlm.nih.gov/pubmed/34946970
http://dx.doi.org/10.3390/genes12122021
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