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[Echogenic intracardiac structures (golf ball phenomenon) as predictors of chromosome anomalies]
D Bettelheim1, M R Ulm, J Deutinger
1Universitätsklinik für Frauenheilkunde, Abteilung für Pränatale Diagnostik und Therapie, Wien.
Insights
The golf ball phenomenon in fetal hearts is often a normal variation. However, it may warrant further screening for chromosomal anomalies in certain high-risk cases.
Area of Science:
- Fetal medicine
- Prenatal diagnostics
- Genetics
Background:
- Echogenic intracardiac structures, or the "golf ball phenomenon," are small, bright spots observed in the fetal heart during ultrasound.
- Some studies suggest a potential association between these structures and chromosomal abnormalities.
Purpose of the Study:
- To prospectively investigate the relationship between echogenic intracardiac structures and chromosomal aberrations in fetuses.
Main Methods:
- A prospective study screened 4500 unselected fetuses (16-31 weeks gestation) over 15 months.
- Echogenic intracardiac structures were specifically sought during routine malformation screening.
Main Results:
- Echogenic intracardiac structures were identified in 77 fetuses (1.17%).
- Chromosome analysis was performed on 60 of these fetuses, revealing two cases (3.3%) with chromosomal abnormalities: trisomy 21 and 45.XO/46.XX mosaicism.
Conclusions:
- The golf ball phenomenon is likely a normal variation related to papillary muscle development.
- While often benign, its presence necessitates a detailed anomaly scan.
- Chromosomal analysis is recommended if other sonographic abnormalities, advanced maternal age, or a positive triple test are present.
Unlabelled:
Small echogenic areas in the fetal heart are known as the golf ball phenomenon. These structures are considered by some to be a marker for chromosomal anomalies.
Aim:
To prospectively study the relationship of echogenic intracardiac structures and chromosomal aberrations.
Methods:
Over a 15 month period (6/96-9/97) 4500 unselected fetuses between 16-31 weeks were screened for malformations; in each case echogenic intracardiac structures were sought.
Results:
In 77 cases (1.17%) single or multiple echogenic punctate intracardiac structures could be diagnosed. In 60 fetuses (78%) chromosome analysis was performed. Two (3.3%) had chromosomal abnormalities--trisomy 21 and 45.XO/46.XX.
Conclusion:
The golf ball phenomenon appears to be a normal variation in the development of the papillary muscle. This sign is usually easily to identify and if present, should lead to a more detailed screening for anomalies. In the case of other sonographic abnormalities, with advanced maternal age or with a positive triple test, a chromosomal analysis should be performed.