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Article

Detection of chromosomal abnormalities and the 22q11 microdeletion in fetuses with congenital heart defects

  • Authors:
    • Wei Lv
    • Shuyu Wang
  • View Affiliations / Copyright

    Affiliations: Department of Genetics, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing 100026, P.R. China
  • Pages: 2465-2470
    |
    Published online on: September 12, 2014
       https://doi.org/10.3892/mmr.2014.2564
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Abstract

Chromosomal abnormalities and the 22q11 microdeletion are implicated in congenital heart defects (CHDs). This study was designed to detect these abnormalities in fetuses and determine the effect of genetic factors on CHD etiology. Between January 2010 and December 2011, 113 fetuses with CHD treated at the Beijing Obstetrics and Gynecology Hospital were investigated, using chromosome karyotyping of either amniotic fluid cell or umbilical cord blood cell samples. Fetuses with a normal result were then investigated for the 22q11 microdeletion by fluorescence in situ hybridization. Of the 113 patients, 12 (10.6%) exhibited chromosomal abnormalities, while 6 (5.3%) of the remaining 101 cases presented with a 22q11 microdeletion. The incidence of chromosomal abnormalities was significantly higher in the group of fetuses presenting with extracardiac malformations in addition to CHD (P<0.001), although the detection of the 22q11 microdeletion was not significantly different between the two groups (P=0.583). In addition, all fetuses with the 22q11 microdeletion occurred de novo. In conclusion, genetic factors are important in the etiology of CHD. Where fetuses present with cardiac defects, additional chromosomal analysis is required to detect extracardiac abnormalities. Fetuses with heart defects should also be considered for 22q11 microdeletion detection to evaluate fetal prognosis, particularly prior to surgery.
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Copy and paste a formatted citation
Spandidos Publications style
Lv W and Wang S: Detection of chromosomal abnormalities and the 22q11 microdeletion in fetuses with congenital heart defects. Mol Med Rep 10: 2465-2470, 2014.
APA
Lv, W., & Wang, S. (2014). Detection of chromosomal abnormalities and the 22q11 microdeletion in fetuses with congenital heart defects. Molecular Medicine Reports, 10, 2465-2470. https://doi.org/10.3892/mmr.2014.2564
MLA
Lv, W., Wang, S."Detection of chromosomal abnormalities and the 22q11 microdeletion in fetuses with congenital heart defects". Molecular Medicine Reports 10.5 (2014): 2465-2470.
Chicago
Lv, W., Wang, S."Detection of chromosomal abnormalities and the 22q11 microdeletion in fetuses with congenital heart defects". Molecular Medicine Reports 10, no. 5 (2014): 2465-2470. https://doi.org/10.3892/mmr.2014.2564
Copy and paste a formatted citation
x
Spandidos Publications style
Lv W and Wang S: Detection of chromosomal abnormalities and the 22q11 microdeletion in fetuses with congenital heart defects. Mol Med Rep 10: 2465-2470, 2014.
APA
Lv, W., & Wang, S. (2014). Detection of chromosomal abnormalities and the 22q11 microdeletion in fetuses with congenital heart defects. Molecular Medicine Reports, 10, 2465-2470. https://doi.org/10.3892/mmr.2014.2564
MLA
Lv, W., Wang, S."Detection of chromosomal abnormalities and the 22q11 microdeletion in fetuses with congenital heart defects". Molecular Medicine Reports 10.5 (2014): 2465-2470.
Chicago
Lv, W., Wang, S."Detection of chromosomal abnormalities and the 22q11 microdeletion in fetuses with congenital heart defects". Molecular Medicine Reports 10, no. 5 (2014): 2465-2470. https://doi.org/10.3892/mmr.2014.2564
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