Prenatal exome and genome sequencing for fetal structural abnormalities
1Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, University of North Carolina at Chapel Hill, Chapel Hill, NC.
American Journal of Obstetrics and Gynecology
|August 26, 2022
Summary
Prenatal exome sequencing offers benefits for fetal anomalies but presents challenges. Providers need to understand its indications, methods, interpretation, ethics, and psychological impact on families.
Area of Science:
- Genetics
- Prenatal Diagnosis
- Clinical Medicine
Background:
- Prenatal exome sequencing (PES) is increasingly used in clinical settings.
- Fetal anomalies require careful diagnostic approaches.
- Understanding PES technology is crucial for healthcare providers.
Purpose of the Study:
- To provide an overview of prenatal sequencing for clinicians.
- To highlight the benefits and challenges of PES.
- To guide providers in managing women with fetal anomalies.
Main Methods:
- Review of current literature on prenatal sequencing.
- Analysis of indications, methods, and diagnostic yield.
- Examination of variant interpretation and ethical considerations.
Main Results:
- PES has a significant diagnostic yield for unexplained fetal anomalies.
- Variant interpretation and ethical dilemmas require careful management.
- Practical aspects like cost and turnaround time are important considerations.
Conclusions:
- Prenatal exome sequencing is a valuable tool but requires comprehensive understanding.
- Effective pre- and post-test counseling is essential for families.
- Addressing the psychological impact is critical for optimal patient care.
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