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Updated: Sep 19, 2025

FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Prenatal Genetic Consultation and Testing
Sarah Araji1, Lauren Westerfield2,3, Roni Zemet3,4
1Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine.
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.
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