Investigation of Genetic Alterations in Congenital Heart Diseases in Prenatal Period.
CHD
aCGH
congenital heart disease
genetic testing
Journal
Global medical genetics
ISSN: 2699-9404
Titre abrégé: Glob Med Genet
Pays: Germany
ID NLM: 101769583
Informations de publication
Date de publication:
Mar 2022
Mar 2022
Historique:
received:
03
08
2021
accepted:
09
09
2021
entrez:
16
2
2022
pubmed:
17
2
2022
medline:
17
2
2022
Statut:
epublish
Résumé
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 (9 Mb) deletion, and 8p22p12 (16.8 Mb) deletion. Our study highlights the importance of genetic testing in CHD.
Identifiants
pubmed: 35169781
doi: 10.1055/s-0041-1736566
pii: 2100039
pmc: PMC8837410
doi:
Types de publication
Journal Article
Langues
eng
Pagination
29-33Informations de copyright
The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. ( https://creativecommons.org/licenses/by/4.0/ ).
Déclaration de conflit d'intérêts
Conflict of Interest None declared.
Références
Am J Med Genet A. 2003 Aug 15;121A(1):79-81
pubmed: 12900908
Am J Obstet Gynecol. 2009 Oct;201(4):390.e1-5
pubmed: 19716116
Prenat Diagn. 2011 Dec;31(12):1134-40
pubmed: 21915886
Proc Natl Acad Sci U S A. 2002 Mar 5;99(5):2878-83
pubmed: 11854453
Ultrasound Obstet Gynecol. 2006 Jan;27(1):107-13
pubmed: 16374757
Circulation. 2018 Nov 20;138(21):e653-e711
pubmed: 30571578
Circulation. 2014 May 27;129(21):2183-242
pubmed: 24763516
Prenat Diagn. 2004 Dec 30;24(13):1116-22
pubmed: 15614848
Natl Vital Stat Rep. 2016 Jun;65(5):1-96
pubmed: 27376998
J Pediatr. 2009 Jul;155(1):26-31, 31.e1
pubmed: 19394031
Ultrasound Obstet Gynecol. 2015 Jan;45(1):27-35
pubmed: 25319878
Hum Mol Genet. 2010 Feb 15;19(4):648-56
pubmed: 19942620
Development. 2003 Jul;130(13):3015-26
pubmed: 12756183
Am J Med Genet A. 2012 Oct;158A(10):2551-6
pubmed: 22965935
Am J Med Genet A. 2014 Feb;164A(2):511-5
pubmed: 24311471
Circ Res. 2005 Aug 5;97(3):219-26
pubmed: 16037571
Am J Obstet Gynecol. 2004 Dec;191(6):2068-73
pubmed: 15592293
Heart. 2000 Apr;83(4):414-9
pubmed: 10722540
Am J Med Genet A. 2015 Dec;167A(12):3019-30
pubmed: 26334118
Prenat Diagn. 2015 Jun;35(6):577-82
pubmed: 25663276
J Pediatr. 1989 Jan;114(1):79-86
pubmed: 2521249
Heart. 2000 Sep;84(3):294-8
pubmed: 10956294
Circulation. 2011 Mar 1;123(8):841-9
pubmed: 21321151
Ultrasound Obstet Gynecol. 2016 May;47(5):616-22
pubmed: 26350159
Am J Obstet Gynecol. 1988 Feb;158(2):409-13
pubmed: 3341415
Mol Cytogenet. 2008 Nov 11;1:23
pubmed: 19000322
J Obstet Gynaecol Res. 2010 Jun;36(3):474-8
pubmed: 20598023
Ultrasound Obstet Gynecol. 2009 May;33(5):552-9
pubmed: 19350566
Genes Dev. 2006 Oct 1;20(19):2728-38
pubmed: 17015434
Am J Med Genet A. 2004 Aug 15;129A(1):51-61
pubmed: 15266616
Ultrasound Obstet Gynecol. 2006 Jul;28(1):110-6
pubmed: 16795132
Am J Med Genet A. 2009 Aug;149A(8):1661-77
pubmed: 19606479
Ultrasound Obstet Gynecol. 2008 Aug;32(2):239-42
pubmed: 18663769
Obstet Gynecol Surv. 2019 Aug;74(8):497-503
pubmed: 31418452
Am J Med Genet. 1993 Sep 15;47(4):512-25
pubmed: 8256815
Development. 2010 May;137(9):1543-51
pubmed: 20356956
Neurogenetics. 2009 Apr;10(2):89-95
pubmed: 18855024
J Clin Invest. 2005 Sep;115(9):2508-16
pubmed: 16138193
Eur J Med Genet. 2012 Jan;55(1):12-6
pubmed: 22067610
Anadolu Kardiyol Derg. 2011 Mar;11(2):125-30
pubmed: 21303759
Ultrasound Obstet Gynecol. 2015 Jun;45(6):631-8
pubmed: 25904437
J Am Heart Assoc. 2018 Mar 9;7(6):
pubmed: 29523523
Pediatr Int. 2011 Dec;53(6):1059-65
pubmed: 21883685