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Fetal hyperechogenic bowel and Down's syndrome
D A Nyberg1, R G Resta, B S Mahony
1Center for Perinatal Studies, Swedish Hospital Medical Center, Seattle, WA, USA.
Summary
Second-trimester fetuses with hyperechogenic bowel show a significantly higher risk for Down's syndrome (trisomy 21). This finding indicates a strong association between fetal hyperechogenic bowel and chromosomal abnormalities.
Area of Science:
- Prenatal Diagnosis
- Fetal Ultrasound
- Genetics
Background:
- Hyperechogenic bowel is an ultrasound finding in fetuses.
- Its association with chromosomal abnormalities requires further investigation.
Purpose of the Study:
- To determine the association between second-trimester hyperechogenic bowel and chromosomal abnormalities, particularly Down's syndrome.
Main Methods:
- Retrospective analysis of 6781 second-trimester genetic amniocentesis cases.
- Comparison of chromosomal abnormality rates in fetuses with and without hyperechogenic bowel.
Main Results:
- Hyperechogenic bowel was identified in 0.81% of fetuses.
- Fetuses with hyperechogenic bowel had a 16-fold increased risk for Down's syndrome (14.5% vs 0.89%).
- Overall, 21.8% of fetuses with hyperechogenic bowel had a chromosomal abnormality, including trisomy 21 and others.
Conclusions:
- Second-trimester hyperechogenic bowel is a significant marker for fetal chromosomal abnormalities.
- It is particularly associated with an increased risk of Down's syndrome.