Impact of prenatal genomics on clinical genetics practice.
Best Pract Res Clin Obstet Gynaecol
; 97: 102545, 2024 Sep 05.
Article
in En
| MEDLINE
| ID: mdl-39265228
ABSTRACT
Genetic testing for prenatal diagnosis in the pre-genomic era primarily focused on detecting common fetal aneuploidies, using methods that combine maternal factors and imaging findings. The genomic era, ushered in by the emergence of new technologies like chromosomal microarray analysis and next-generation sequencing, has transformed prenatal diagnosis. These new tools enable screening and testing for a broad spectrum of genetic conditions, from chromosomal to monogenic disorders, and significantly enhance diagnostic precision and efficacy. This chapter reviews the transition from traditional karyotyping to comprehensive sequencing-based genomic analyses. We discuss both the clinical utility and the challenges of integrating prenatal exome and genome sequencing into prenatal care and underscore the need for ethical frameworks, improved prenatal phenotypic characterization, and global collaboration to further advance the field.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Language:
En
Journal:
Best Pract Res Clin Obstet Gynaecol
Journal subject:
GINECOLOGIA
/
OBSTETRICIA
Year:
2024
Document type:
Article
Country of publication:
Netherlands