The evolving genetic etiology of conotruncal anomalies.
Prenat Diagn
; 44(6-7): 815-820, 2024 06.
Article
em En
| MEDLINE
| ID: mdl-38363003
ABSTRACT
OBJECTIVE:
To assess the diagnostic yield of genetic testing for antenatally detected conotruncal defects.METHOD:
This was a retrospective analysis of all antenatally detected cases of conotruncal anomalies over a 4-year period. Patients were offered antenatal and postnatal genetic testing including QF-PCR, microarray and exome sequencing (ES) antenatally or genome sequencing (GS) postnatally on a case-by-case basis.RESULTS:
There were 301 cases included. Overall, there were pathogenic genetic findings in 27.6% of the cases tested (53/192). The commonest finding was 22q11.21 deletion (20/192 cases, 10.4%), followed by trisomy 21 (6/192, 3.1%). There were 249 cases of isolated conotruncal anomalies, of which 59.8% (149/249) had genetic testing and 22.8% (34/149) had pathogenic findings. ES/GS was performed in five cases with no pathogenic findings. There were 52 cases of non-isolated contruncal anomalies, of which 82.7% (43/52) had genetic testing. ES/GS was performed in 11 cases in this group and increased the yield of clinically significant diagnoses from 32.6% (14/43) to 44.2% (19/43).CONCLUSION:
Genetic abnormalities are present in over one quarter of cases of antenatally detected conotruncal anomalies. The commonest abnormality is 22q11.21 deletion. Exome sequencing or genome sequencing leads to a significant increase in genetic diagnosis in non-isolated cases.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Testes Genéticos
Tipo de estudo:
Etiology_studies
Limite:
Adult
/
Female
/
Humans
/
Male
/
Pregnancy
Idioma:
En
Revista:
Prenat Diagn
Ano de publicação:
2024
Tipo de documento:
Article