Impact of Prenatal Genomics on Clinical Genetics Practice

Authors

• Roni Zemet
• Ignatia B Van den Veyver

Language

English

Publication Date

12-1-2024

Journal

Best Practice & Research Clinical Obstetrics & Gynaecology

DOI

10.1016/j.bpobgyn.2024.102545

PMID

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.

Keywords

Humans, Female, Pregnancy, Prenatal Diagnosis, Genomics, Genetic Testing, High-Throughput Nucleotide Sequencing, Karyotyping, Aneuploidy, Clinical practice, Exome sequencing, Genome sequencing, Prenatal diagnosis

Published Open-Access

yes

Recommended Citation

Roni Zemet and Ignatia B Van den Veyver, "Impact of Prenatal Genomics on Clinical Genetics Practice" (2024). Duncan NRI Faculty and Staff Publications. 221.
https://digitalcommons.library.tmc.edu/duncar_nri_pub/221