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Dandy-Walker malformation as sonographic marker for fetal triploidy
1Universitätsklinik für Frauenheilkunde, Abteilung für Pränatale Diagnostik und Therapie, Allgemeines Krankenhaus Wien, Osterreich, Germany. w.blaicher@akh-wien.ac.at
Ultraschall in Der Medizin (Stuttgart, Germany : 1980)
|April 19, 2002
Summary
Fetal triploidy, a cause of early pregnancy loss, presents specific ultrasound markers. The Dandy-Walker malformation and variant are identified as additional key sonographic indicators for diagnosing fetal triploidy.
Area of Science:
- Prenatal diagnosis
- Medical genetics
- Fetal medicine
Background:
- Fetal triploidy is a significant cause of early pregnancy loss.
- Survival into the second trimester is rare.
- Known sonographic markers include growth restriction and placental abnormalities.
Purpose of the Study:
- To report prenatal sonographic findings in thirteen fetuses diagnosed with triploidy.
- To identify additional sonographic markers for fetal triploidy.
Main Methods:
- Retrospective analysis of prenatal sonographic findings.
- Inclusion of thirteen triploid fetuses (69, XXX or 69, XXY) between 18-34 weeks' gestation.
Main Results:
- Common findings included intrauterine growth restriction (11/13), oligohydramnios (8/13), and cerebral ventriculomegaly (6/13).
- Structural heart defects (4/13) and Dandy-Walker malformation/variant (4/13) were also frequent.
- Dandy-Walker malformation/variant were observed in 4 out of 13 triploid fetuses.
Conclusions:
- Dandy-Walker malformation and Dandy-Walker variant should be considered additional sonographic markers for fetal triploidy.
- These findings aid in the prenatal diagnosis of fetal triploidy.