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Ultrasound findings and multiple marker screening in trisomy 18
C G Brumfield1, K D Wenstrom, J Owen
1Department of Obstetrics and Gynecology, The University of Alabama at Birmingham, 35233-7333, USA. cynthiab@uab.edu
Obstetrics and Gynecology
|January 15, 2000
Summary
Second-trimester ultrasound detected trisomy 18 abnormalities in 70% of cases, outperforming multiple-marker screening (43%). Combining both methods improved trisomy 18 detection to 80%.
Area of Science:
- Prenatal Diagnosis
- Medical Genetics
- Fetal Medicine
Background:
- Trisomy 18 is a severe chromosomal abnormality.
- Accurate second-trimester detection is crucial for genetic counseling.
- Ultrasound and multiple-marker screening are common prenatal diagnostic tools.
Purpose of the Study:
- To compare the detection rates of trisomy 18 using second-trimester ultrasound versus multiple-marker screening.
- To evaluate the combined efficacy of both methods for trisomy 18 detection.
Main Methods:
- Retrospective analysis of a genetics database (1988-1997).
- Inclusion of fetuses (14-22 weeks gestation) with karyotyped trisomy 18.
- Comparison of ultrasound findings and multiple-marker screening results (AFP, hCG, E3).
Main Results:
- Ultrasound detected abnormalities in 70% of trisomy 18 fetuses, compared to 43% for multiple-marker screening.
- Choroid plexus cyst was the most common isolated ultrasound finding.
- Combining ultrasound and multiple-marker screening increased detection to 80%.
Conclusions:
- Second-trimester ultrasound is more sensitive than multiple-marker screening for detecting trisomy 18.
- Integrated screening combining ultrasound and biochemical markers offers the highest detection rate for trisomy 18.
- This combined approach enhances prenatal diagnosis of trisomy 18.