Yu Xia1,2,3, Yongchao Yang1,2, Shufang Huang1,3, Yueheng Wu1,2,3, Ping Li1,4, Jian Zhuang2,3. 1. Prenatal Diagnosis Center, Guangdong General Hospital, Guangdong Academy of Medical Science, Guangdong, China. 2. Department of Cardiovascular Surgery of Guangdong Provincial Cardiovascular Institute, Guangdong General Hospital, Guangdong Academy of Medical Sciences, Guangdong, China. 3. Guangdong Provincial Key Laboratory of South China Structural Heart Disease, Guangdong General Hospital, Guangdong Academy of Medical Science, Guangdong, China. 4. Department of Obstetrics and Gynecology, Guangdong General Hospital, Guangdong Academy of Medical Science, Guangdong, China.
Abstract
OBJECTIVES: This study aimed to determine chromosomal abnormalities and copy number variations (CNVs) in fetuses with congenital heart disease (CHD) by chromosomal microarray analysis (CMA). METHODS: One hundred and ten cases with CHD detected by prenatal echocardiography were enrolled in the study; 27 cases were simple CHDs, and 83 were complex CHDs. Chromosomal microarray analysis was performed on the Affymetrix CytoScan HD platform. All annotated CNVs were validated by quantitative PCR. RESULTS: Chromosomal microarray analysis identified 6 cases with chromosomal abnormalities, including 2 cases with trisomy 21, 2 cases with trisomy 18, 1 case with trisomy 13, and 1 unusual case of mosaic trisomy 21. Pathogenic CNVs were detected in 15.5% (17/110) of the fetuses with CHDs, including 13 cases with CHD-associated CNVs. We further identified 10 genes as likely novel CHD candidate genes through gene functional enrichment analysis. We also found that pathogenic CMA results impacted the rate of pregnancy termination. CONCLUSIONS: This study shows that CMA is particularly effective for identifying chromosomal abnormalities and CNVs in fetuses with CHDs as well as having an effect on obstetrical outcomes. The elucidation of the genetic basis of CHDs will continue to expand our understanding of the etiology of CHDs.
OBJECTIVES: This study aimed to determine chromosomal abnormalities and copy number variations (CNVs) in fetuses with congenital heart disease (CHD) by chromosomal microarray analysis (CMA). METHODS: One hundred and ten cases with CHD detected by prenatal echocardiography were enrolled in the study; 27 cases were simple CHDs, and 83 were complex CHDs. Chromosomal microarray analysis was performed on the Affymetrix CytoScan HD platform. All annotated CNVs were validated by quantitative PCR. RESULTS: Chromosomal microarray analysis identified 6 cases with chromosomal abnormalities, including 2 cases with trisomy 21, 2 cases with trisomy 18, 1 case with trisomy 13, and 1 unusual case of mosaic trisomy 21. Pathogenic CNVs were detected in 15.5% (17/110) of the fetuses with CHDs, including 13 cases with CHD-associated CNVs. We further identified 10 genes as likely novel CHD candidate genes through gene functional enrichment analysis. We also found that pathogenic CMA results impacted the rate of pregnancy termination. CONCLUSIONS: This study shows that CMA is particularly effective for identifying chromosomal abnormalities and CNVs in fetuses with CHDs as well as having an effect on obstetrical outcomes. The elucidation of the genetic basis of CHDs will continue to expand our understanding of the etiology of CHDs.
Authors: Yaobin Zhu; Yaping Zhang; Nan Ding; Yudong Zhao; Zankai Ye; Xing Fan; Yang Liu; Lei Shen; Hanlu Yi; Zhiqiang Li Journal: J Int Med Res Date: 2019-08-27 Impact factor: 1.671
Authors: Katarzyna Kowalczyk; Magdalena Bartnik-Głaska; Marta Smyk; Izabela Plaskota; Joanna Bernaciak; Marta Kędzior; Barbara Wiśniowiecka-Kowalnik; Krystyna Jakubów-Durska; Natalia Braun-Walicka; Artur Barczyk; Maciej Geremek; Jennifer Castañeda; Anna Kutkowska-Kaźmierczak; Paweł Własienko; Marzena Dębska; Anna Kucińska-Chahwan; Tomasz Roszkowski; Szymon Kozłowski; Boyana Mikulska; Tadeusz Issat; Ewa Obersztyn; Beata Anna Nowakowska Journal: Genes (Basel) Date: 2021-12-19 Impact factor: 4.096