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Second trimester markers of aneuploidy.
1Department of Obstetrics and Gynaecology, Liverpool Hospital, Sydney, Australia.
Bailliere'S Best Practice & Research. Clinical Obstetrics & Gynaecology
|September 14, 2000
Summary
Identifying sonographic markers for aneuploidy in low-risk populations remains controversial. Current risk estimates, often from high-risk groups, need reevaluation as screening programs evolve.
Area of Science:
- Medical Imaging
- Prenatal Diagnosis
- Genetics
Background:
- Aneuploidy screening in pregnancy is evolving with new first and second-trimester programs.
- Sonographic markers identified in the second trimester are controversial for low-risk populations.
- Existing risk estimates for sonographic markers are primarily based on high-risk populations.
Purpose of the Study:
- To review current sonographic markers for aneuploidy.
- To discuss the challenges of applying these markers to the general, low-risk population.
- To evaluate the impact of evolving screening programs on second-trimester ultrasound utility.
Main Methods:
- Literature review of current sonographic markers for aneuploidy.
- Analysis of risk estimation methodologies.
- Discussion of screening program advancements.
Main Results:
- The utility of sonographic markers in low-risk populations is debated.
- Application of markers is complicated by varying population risks.
- First and combined trimester screening may change the role of second-trimester scans.
Conclusions:
- Sonographic markers require careful interpretation in low-risk groups.
- Further research is needed to validate markers across diverse populations.
- Screening program changes necessitate reassessment of ultrasound's role in aneuploidy detection.