Prenatal and postnatal chromosomal microarray analysis in 885 cases of various congenital heart defects.
Arch Gynecol Obstet
; 306(4): 1007-1013, 2022 10.
Article
en En
| MEDLINE
| ID: mdl-35083553
ABSTRACT
PURPOSE:
This study aimed to evaluate the prevalence of clinically significant (pathogenic and likely pathogenic) variants detected by chromosomal microarray (CMA) tests performed for prenatally and postnatally detected congenital heart defects.METHODS:
A retrospective evaluation of CMA analyses over a period of four years in a single tertiary medical center was performed. Detection rate of clinically significant variants was calculated in the whole cohort, prenatal vs. postnatal cases, and isolated vs. non-isolated CHD. This rate was compared to previously published control cohorts, and to a theoretical detection rate of noninvasive prenatal testing (NIPS; 5 chromosomes).RESULTS:
Of the 885 cases of CHD, 111 (12.5%) clinically significant variants were detected, with no significant difference between the 498 prenatal and the 387 postnatal cases (10.8% vs. 14.7%, p = 0.08). In both groups, the detection rate was significantly higher for non-isolated vs. isolated CHD (76/339 = 22.4% vs. 35/546 = 6.4%, respectively, p < 0.05). The detection rate was higher than the background risk in both groups, including cases of postnatal isolated CHD. 44% of abnormal findings in the prenatal setting would be detectable by NIPS.CONCLUSION:
CMA should be performed for both prenatally and postnatally detected CHD, including postnatal cases of isolated CHD, while NIPS can be considered in specific scenarios.Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Diagnóstico Prenatal
/
Cardiopatías Congénitas
Tipo de estudio:
Diagnostic_studies
/
Observational_studies
/
Risk_factors_studies
Límite:
Female
/
Humans
/
Pregnancy
Idioma:
En
Año:
2022
Tipo del documento:
Article