47,XYY male with increased nuchal fold thickness, choroid plexus cyst and limb anomaly: A case report / 대한산부인과학회지

47,XYY males are found in approximately 1 per 1,000 men. There is no significant difference in intelligence compared with a normal karyotype group. 47,XYY males are fertile and are considered to be relatively tall in stature owing to the increased growth velocity during the earliest childhood. It has been known that 47,XYY males are usually quite normally developed at birth with normal birth weight and length without any physical abnormalities. We have experienced a case of 47,XYY male with increased nuchal fold thickness, choroid plexus cyst and limb anomaly and we report the case with brief review of the literature. A 31-year-old woman, who had terminated her first pregnancy due to limb anomaly at 24 weeks gestation, received ultrasonography at about 16 weeks gestation and was found having a fetus with increased nuchal fold, choroid plexus cyst and limb anomaly. Through the genetic counselling, her pregnancy was terminated and the chromosome karyotyping was performed with the fetal tissue and parent's peripheral blood. The results revealed that the parents had normal karyotypes, but the karyotype of the fetus showed 47,XYY.

A Case of Edward Syndrome with Choroid Plexus Cyst / 대한산부인과학회잡지

Trisomy 18 is the second most common chromosomal anomaly which reach to live birth next to Down syndrome. Several methods were proposed to screen patients on the risk of Edward syndrome like maternal serum levels of total human chorionic gonadotropin (hCG), alpha-fetoprotein (AFP) and unconjugated estriol or free beta hCG with AFP, but the serum screening has only 67% detection rate with a 7.2% of false positive rate. Therefore, in order to overcome the limitations which the serum markers have, detailed ultrasound examination is also necessary and sensitivity of 80% was reported. We report a case of Trisomy 18 fetus in which choroid plexus cyst was the only abnormal sonographic finding.

A Significance of Fetal Choroid Plexus Cysts / 대한주산의학회잡지

OBJECTIVE: Choroid plexus cysts(CPCs) are commonly found at a routine ultrasonography. There is, however much debate as to their clinical significance. The aim of this study were to estimate the prevalence of CPCs associated with aneuploidy and to establish the guidelines for prenatal management and parental counseling. METHODS: Between January 1996 and December 2001, 10,917 women who underwent the secondtrimester USG at Asan Medical Center, of them CPCs were noted in 168 fetuses; there were 85 cases of isolated CPCs and 83 cases of the high risk group. All women whose fetuses were diagnosed as having CPCs underwent the targeted USG for survey of the detailed anatomy and followed with the repeat USG after 3-4weeks. We analysed the association of chromosomal abnormality and CPC, according to the size, bilaterality, and shape. RESULTS: The incidence of CPCs was 1.60%(175/10917). The gestational age of the first detection of CPCs was 21.0+/-3.8(mean+/-SD). In the isolated CPCs(85cases) all case except one resulted in normal karyotyping. In the high risk group(83cases), eighteen of trisomy 18, and two of trisomy 21 were detected. Almost all of them had other structural abnormalities on USG. The chromosomal abnormalities was significantly related with CPCs when CPCs are large(>or=10mm), bilateral, and irregular shape. CONCLUSION: The risk of chromosomal abnormalities is elevated when CPCs are associated with other structural abnormalities on USG. Therefore it is recommendable that the fetal chromosomal analysis to be performed, based on the presence of associated abnormal findings on USG, maternal age, and results of the double marker test.

Follow-up Study of 119 cases of Fetal Choroid Plexus Cysts in the Second Trimester: Associated with Trisomy 18? / 대한산부인과학회잡지

OBJECTIVE: To evaluate the clinical significance of fetal choroid plexus cysts (CPCs) in the second trimester, especially an association with trisomy 18. METHODS: From March 1998 through June 1999, second trimester screening ultrasonography was performed on 4,948 unselected single-ton pregnancies. CPCs were noted in 132 fetuses. Among them, detailed ultrasonography and follow-up was possible in 119 cases and they were recruited into the study. There were 91 cases of isolated CPCs and 28 cases of CPCs in high-risk population. "Isolated CPCs" were defined as: mother did not have any risk factors requiring amniocentesis and there were no other sonographic abnormalities on detailed ultrasound. "CPCs in high-risk population" were defined as: mother had any risk factor requiring karyotyping or there were any other sonographic abnormalities although she was general population. Amniocentesis was performed in 39 cases. We compared gestational age at time of detection, size, bilaterally, multiplicity, and complexity of CPCs in the group of isolated CPCs and CPCs in high-risk population (t-test, chi-square test; P0.05). Mean size (6.4 vs 6.2 mm), bilaterality (60% vs 57%), multiplicity (66% vs 57%), and complexity (8% vs 14%) of CPCs were also similar. All CPCs were disappeared irrespective of size and mean time of disappearance was 25+/-3 and 26+/-3 week, respectively (p>0.05). All cases of isolated CPCs resulted in phenotypically-normal neonates. It was confirmed by either amniocentesis or postnatal examination by the pediatrician. Among fetuses having CPCs in high-risk population, two trisomy 18 and one trisomy 21 were detected. All of them had positive result of maternal serum marker test and/or sonographic abnormalities. Remaining cases were proved normal. CONCLUSION: The risk of chromosome abnormalities is very high when CPCs are associated with other abnormalities on detailed ultrasound, indicating a clear need to offering genetic amniocentesis. As contrast, the risk of chromosome abnormalities for a case of isolated CPCs is very low, and in this series there was no trisomy 18. Therefore isolated CPCs should be considered as the indication of detailed ultrasound examination, but not routine karyotyping.

A Symptomatic Choroid Plexus Cyst in the Lateral Ventricle: Case Report

The authors report a case of symptomatic choroid plexus cyst, located in the trigone of the left lateral ventricle in a 18-year-old man who presented with headache and seizure attack. The cyst was diagnosed by magnetic resonance image(MRI), and was confirmed with surgery. The cyst had no communication with the ventricular system orsubarachnoid space. Total removal of cyst adhering to the choroid plexus was accomplished, with subsequent disappearance of the seizure and headache. A brief review of the literature is included.