| Autor: |
Simão, Laurentino, Marques, Bárbara, Serafim, Sílvia, Alves, Ana, Pedro, Sónia, Brito, Filomena, Ferreira, Cristina, Peliano, Ricardo, Silva, Marisa, Baptista, Teresa, Quintal, Idolinda, Tomás, Edite, Cascais, Inês, Correia, Hildeberto |
| Jazyk: |
angličtina |
| Rok vydání: |
2021 |
| Předmět: |
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| ISSN: |
0000-0000 |
| Popis: |
publicado em:Medicine (Baltimore). 2021 Jan 29;100(4):e23585. doi: 10.1097/MD.0000000000023585 Introduction: Congenital heart disease (CHD) is the most common form of birth defects. The incidence of CHD is about 0.8% to 1% in live-born, full-term births, and it is ten times higher in preterm infants (8.3%). The atrioventricular septum defect (AVDS) is the most common CHD detectable in utero. AVSD is known to occur in either a nonsyndromic (isolated) form or, more commonly, as part of a malformation syndrome. Methodology: A 30-year-old woman at 12 weeks of gestation was referred for prenatal diagnosis due to fetal AVSD. Chromosomal microarray analysis (CMA) was carried out after a normal molecular rapid aneuploidy test result. Results: CMA identified, in a male fetus, a 3.11 Mb interstitial deletion at 8p23.1 - arr[GRCh37] 8p23.1(8824857_11935465)x1. This region encompasses 17 OMIM genes including GATA4. This protein is thought to regulate genes involved in embryogenesis and in myocardial differentiation and function. Parental testing was requested and CMA was performed revealing that the deletion is de novo. Discussion: Deletions and mutations of the GATA4 gene are associated with cardiac septal defects. This deletion has a pathogenic clinical significance. The AVSD found in the fetus can be explained by the observed genomic change. Interstitial deletions of 8p23.1 are associated with a variable spectrum of anomalies that include congenital heart malformations. The prevalence is unknown but 8p23.1 deletions are rare. Most 8p deletions occurs de novo. The accuracy of cardiac defects in obstetric ultrasound and the identification of the genetic cause provide more knowledge for the genetic counseling. The parents opted to terminate the pregnancy. N/A |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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