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Antenatal sonographic findings in trisomy 18
Summary
Trisomy 18 diagnosis can be suggested by specific antenatal ultrasound findings, especially in the third trimester. Early detection is crucial due to the condition's poor prognosis.
Area of Science:
- Prenatal diagnosis
- Medical genetics
- Obstetrics
Background:
- Trisomy 18 (Edwards syndrome) is a genetic disorder with significant clinical implications.
- Antenatal diagnosis of trisomy 18 relies on identifying specific fetal abnormalities.
Purpose of the Study:
- To review clinical and sonographic findings in trisomy 18 cases.
- To identify antenatal sonographic features suggestive of trisomy 18.
- To emphasize the importance of late antepartum diagnosis.
Main Methods:
- Retrospective review of fifteen cases with trisomy 18.
- Analysis of demonstrable antenatal sonographic features.
- Correlation of findings with diagnosis.
Main Results:
- Clinical and sonographic presentations of trisomy 18 are diverse.
- Specific combinations of sonographic findings, particularly in the third trimester, are highly suggestive.
- Late antepartum diagnosis is feasible and important.
Conclusions:
- Certain antenatal ultrasound findings can strongly suggest trisomy 18.
- Timely diagnosis in the third trimester is critical for management planning.
- The poor prognosis of trisomy 18 underscores the need for accurate prenatal detection.