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Isolated choroid plexus cysts and association with fetal aneuploidy in an unselected population
Author(s) -
Geary M.,
Patel S.,
Lamont R.
Publication year - 1997
Publication title -
ultrasound in obstetrics and gynecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.202
H-Index - 141
eISSN - 1469-0705
pISSN - 0960-7692
DOI - 10.1046/j.1469-0705.1997.10030171.x
Subject(s) - choroid plexus , medicine , aneuploidy , amniocentesis , cyst , population , fetus , trisomy , obstetrics , gynecology , pathology , prenatal diagnosis , pregnancy , biology , chromosome , genetics , environmental health , gene , central nervous system
We sought to determine the relationship between an isolated choroid plexus cyst diagnosed antenatally and fetal aneuploidy in an unselected population at a district general hospital. Over a 5‐year period all women attending for a detailed anomaly scan at 18–20 weeks' gestation were screened for evidence of a fetal choroid plexus cyst. All cases of choroid plexus cyst were recorded prospectively. The size, position and number of the cysts were noted and associated abnormalities seen on ultrasound were also recorded. Cases of choroid plexus cyst associated with fetal aneuploidy were noted. A total of 13 690 women were screened, and 84 cases of choroid plexus cyst were identified (0.6%). Of these, 41% underwent prenatal karyotyping by amniocentesis; 78 of 84 cases (93%) were isolated. Six had other markers for aneuploidy, and three of these fetuses had trisomy 18. All cases of isolated choroid plexus cyst resulted in chromosomally normal neonates. This was confirmed by either normal antenatal karyotype or postnatal examination by the pediatricians. The size, position and number of cysts did not appear to influence the risk of aneuploidy. We conclude that the risk of aneuploidy for a case of isolated choroid plexus cyst in an unselected population appears to be very low, and in this series was 0%. In this setting, we suggest detailed ultrasound examination is essential, rather than routine karyotyping. Copyright © 1997 International Society of Ultrasound in Obstetrics and Gynecology