Prenatal Genetic Consultation and Testing

Authors

• Sarah Araji
• Lauren Westerfield
• Roni Zemet
• Ignatia B Van den Veyver

Language

English

Publication Date

9-1-2025

Journal

Clinical Obstetrics and Gynecology

DOI

10.1097/GRF.0000000000000957

PMID

40462300

Abstract

The evolution of prenatal genetic testing has transformed prenatal diagnosis into a more precise and individualized approach. Advanced tools such as chromosomal microarray analysis and exome sequencing have enabled the prenatal diagnosis of more genetic conditions, including anomalies and disorders eligible for fetal therapy. When in utero therapy is considered, accurate genetic diagnosis is essential for guiding providers' and patients' decisions regarding management and outcomes. This chapter reviews available prenatal genetic screens and tests, their indications, and counseling strategies. It also explores genetic abnormalities associated with fetal structural anomalies and their implications for decision-making in fetal interventions.

Keywords

Humans, Pregnancy, Female, Genetic Counseling, Genetic Testing, Prenatal Diagnosis, Referral and Consultation, Genetic Diseases, Inborn, chromosomal microarray analysis, fetal abnormalities, fetal therapy, genetic counseling, next-generation sequencing, prenatal genetic testing

Published Open-Access

yes

Recommended Citation

Araji, Sarah; Westerfield, Lauren; Zemet, Roni; et al., "Prenatal Genetic Consultation and Testing" (2025). Duncan NRI Faculty and Staff Publications. 220.
https://digitalcommons.library.tmc.edu/duncar_nri_pub/220