[Echogenic intracardiac structures (golf ball phenomenon) as predictors of chromosome anomalies].
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.


OBJECTIVE
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.


CONCLUSIONS
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.
Bettelheim
D
D
Universitätsklinik für Frauenheilkunde, Abteilung für Pränatale Diagnostik und Therapie, Wien.
Ulm
M R
MR
Deutinger
J
J
Bernaschek
G
G
D000328:Adult; D015415:Biomarkers / Q000032:analysis; D002869:Chromosome Aberrations / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000473:pathology; D025063:Chromosome Disorders; D004452:Echocardiography; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics; D005318:Fetal Heart / Q000000981:diagnostic imaging* / Q000473:pathology; D006801:Humans; D007621:Karyotyping; D008297:Male; D011247:Pregnancy; D016216:Ultrasonography, Prenatal
D015415:Biomarkers