맥락얼기 물혹 단독 이상 소견을 동반한에드워드 증후군 1예
A Case of Edward Syndrome with Choroid Plexus Cyst
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초록
18번 염색체 삼배성 질환은 출생아에서 다운 증후군에 이어 두 번째로 흔한 염색체 이상 질환이다. 에드워드 증후군의 위험도를 가지고 있는 환자를 선별하기 위해 몇 가지 방법들이 제안되었는데 이러한 방법에는 총 융모성선자극호르몬, 알파태아단백, 비포합에스트리올의 모체 혈청치를 비교하여 위험도를 평가하는 삼중 검사법이 있다. 그러나 이러한 검사의 발견률은 67%에 불과하며 위양성률은 7.2%이다. 따라서 이러한 선별 검사의 한계를 보완하기 위해 정밀 초음파 검사가 필요하며 이것의 민감도는 80%로 보고되고 있다. 저자는 초음파상 맥락얼기 물혹 단독 이상 소견을 보였던 에드워드 증후군 1예를 경험하였기에 이를 보고하고자 한다.
Abstract
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.
참고문헌 (19)
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