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Reproductive Carrier Screening Results With Maternal Health Implications During Pregnancy.
Vivienne Souter1, Brittany Prigmore, Emily Becraft
1Natera, Inc., Austin, Texas; and the University of Connecticut Health Center, Farmington, Connecticut.
Obstetrics and Gynecology
|August 10, 2023
Summary
Approximately 1 in 40 women are carriers for genetic conditions that can cause pregnancy complications. Obstetric care providers should be aware of these risks and management guidelines for carrier patients.
Area of Science:
- Reproductive genetics
- Maternal-fetal medicine
- Clinical genetics
Background:
- Reproductive carrier screening identifies individuals who carry genetic variants for inherited conditions.
- Certain carrier conditions can manifest during pregnancy, impacting maternal health.
- Understanding these risks is crucial for optimizing obstetric care.
Approach:
- Retrospective cross-sectional study of 91,637 female patients undergoing carrier screening.
- Literature review to identify genes associated with pregnancy complications in carriers.
- Analysis of carrier frequencies and clinical management recommendations.
Key Points:
- 12 genes identified with potential for maternal manifestations during pregnancy.
- Manifestations include cardiomyopathy, hemorrhage, and hypertensive disorders.
- Carrier frequency for conditions with potential maternal impact was 1 in 43 (2.3%).
Conclusions:
- Nearly 1 in 40 women screened are carriers for conditions posing risks during pregnancy.
- Obstetric care professionals must recognize potential complications in carriers.
- Awareness and adherence to management guidelines are essential for improved maternal outcomes.
