Investigation of Genetic Alterations in Congenital Heart Diseases in Prenatal Period
Küçük Resim Yok
Tarih
2022
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Thieme Medical Publ Inc
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
The prenatal diagnosis of congenital heart disease (CHD) is important because of mortality risk. The onset of CHD varies, and depending on the malformation type, the risk of aneuploidy is changed. To identify possible genetic alterations in CHD, G-banding, chromosomal microarray or if needed DNA mutation analysis and direct sequence analysis should be planned. In present study, to identify genetic alterations, cell culture, karyotype analysis, and single nucleotide polymorphism, array analyses were conducted on a total 950 samples. Interventional prenatal genetic examination was performed on 23 (2, 4%, 23/950) fetal CHD cases. Chromosomal abnormalities were detected in 5 out of 23 cases (21, 7%). Detected chromosomal abnormalities were 10q23.2 deletion, trisomy 18, 8p22.3-p23.2 deletion, 8q21.3-q24.3 duplication, 11q24.2q24.5 (9Mb) deletion, and 8p22p12 (16.8Mb) deletion. Our study highlights the importance of genetic testing in CHD.
Açıklama
Anahtar Kelimeler
CHD, Acgh, Genetic Testing, Congenital Heart Disease, Terminal Deletion Disorder, Defects, Diagnosis, Abnormalities, Prevalence, Aneuploidy, Statement, Receptor, Region, Ets-1
Kaynak
Global Medical Genetics
WoS Q Değeri
N/A
Scopus Q Değeri
Cilt
9
Sayı
1
