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Updates in Genetic Screening for the General Obstetrician
Taylor M Dunn1, Akila Subramaniam2
1Department of Genetics, University of Alabama at Birmingham, 1720 2nd Avenue South, VH1L108B, Birmingham, AL 35294-0019, USA.
Obstetrics and Gynecology Clinics of North America
|July 27, 2023
Summary
Prenatal genetic screening using cell-free DNA is now standard for detecting fetal aneuploidy. This guide covers screening recommendations, counseling, and genetic referrals for expectant parents.
Area of Science:
- Genetics
- Obstetrics
- Molecular Biology
Background:
- Advances in DNA sequencing have expanded prenatal genetic screening options.
- Noninvasive prenatal screening (NIPS) using cell-free DNA is highly sensitive and specific for fetal aneuploidy.
- NIPS is increasingly integrated into routine prenatal care for average and high-risk pregnancies.
Purpose of the Study:
- To provide recommendations for cell-free DNA screening.
- To outline carrier screening guidelines.
- To detail pretest and posttest genetic counseling for obstetric providers.
- To identify patients needing genetic specialist referral.
Main Methods:
- Review of current literature and guidelines on prenatal genetic screening.
- Analysis of cell-free DNA screening technologies.
- Discussion of genetic counseling principles.
- Criteria for referral to genetic specialists.
Main Results:
- Cell-free DNA screening is the preferred method for fetal aneuploidy detection.
- Comprehensive carrier screening is recommended.
- Effective pretest and posttest counseling is crucial for informed decision-making.
- Clear referral pathways to genetic specialists are necessary.
Conclusions:
- Obstetric providers must stay updated on evolving prenatal genetic screening recommendations.
- Informed patient counseling is essential for appropriate utilization of genetic screening.
- Genetic specialists play a vital role in managing complex cases and high-risk pregnancies.
