Related Experiment Video
Updated: Aug 10, 2026
07:34
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Carrier Screening Insights From a Maternal-Fetal Medicine Practice
Jordana L Graifman1, Lawrence D Platt
1Center for Fetal Medicine and Women's Ultrasound, and the Department of Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, Los Angeles, California.
Obstetrics and Gynecology
|July 28, 2026
Summary
Timely carrier screening is crucial for reproductive risk assessment. Prioritizing prepregnancy screening or early pregnancy screening with concurrent partner testing improves genetic risk detection and reduces patient distress.
Area of Science:
- Genetics
- Reproductive Medicine
- Clinical Practice
Background:
- Carrier screening identifies risks for genetic conditions.
- Current clinical implementation of carrier screening is inconsistent.
- Variations exist in screening practices across different settings.
Purpose of the Study:
- To evaluate clinical patterns in carrier screening.
- To identify delays and inequities in current carrier screening practices.
- To propose optimized strategies for carrier screening.
Main Methods:
- Retrospective analysis of clinical data.
- Observation of patient referrals at a high-volume maternal-fetal medicine center.
- Evaluation of screening timelines and partner testing protocols.
Main Results:
- Carrier screening is often performed later than optimal, limiting decision-making time.
- Screening practices vary by referring clinician, leading to inequities.
- Discordant or sequential partner screening delays risk clarification.
Conclusions:
- Prepregnancy carrier screening should be prioritized.
- If not prepregnancy, screening should occur early in pregnancy with concurrent partner testing.
- Comprehensive patient counseling on screening options is essential for autonomy.
