임신 중기 양수천자의 세포유전학적 분석 및임상적 고찰
Cytogenetic and clinical analysis of midtrimester amniocentesis
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목적: 임신 중기 양수천자의 임상적 특징과 세포유전학적 검사 결과를 분석하고자 하였다. 연구 방법: 1998년 1월부터 2003년 12월까지 산전 유전학적 검사를 위해 양수천자를 시행한 1,622명의 임신부를 대상으로 의무기록과 태아 염색체 검사 결과를 후향적으로 분석하였다. 양수천자를 시행 받은 임신부의 연령, 임신 주수, 양수천자의 적응증과 태아 염색체 결과, 각 적응증에 따른 염색체 이상의 양성예측률, 양수천자의 합병증 등을 분석하였다. 결과: 양수천자 시 임신부의 연령은 35세에서 39세 사이가 622명 (37.6%)으로 가장 많았다. 임신 16주에서 19주 사이에 78.9%의 양수천자가 이루어져 가장 많은 분포를 하였다. 양수천자의 적응증은 35세 이상의 고령 임신이 763예 (46.2%)로 가장 많았고, 비정상 혈청 표지자 검사와 비정상 초음파 소견은 각각 544예 (32.9%), 166예 (10.0%)였다. 총 1,653건의 양수천자 중 염색체 이상이 발견된 경우는 34예 (2.1%)였다. 양수천자의 적응증에 따른 염색체 이상의 빈도는 비정상 초음파 소견, 비정상 혈청 표지자 검사, 고령 임신의 순으로 각각 3.0%, 2.5%, 1.5%였다. 양수천자의 합병증으로 인한 태아 사망은 7예 (0.51%)가 있었다. 결론: 임신 중기 양수천자의 가장 흔한 적응증은 고령 임신이었으나 비정상 초음파 소견이 염색체 이상의 가장 높은 양성예측률을 나타냈다.
Abstract
Objective: To analyze the clinical features and cytogenetic results of midtrimester amniocentesis. Methods: We reviewed retrospectively medical records of 1,622 women who received amniocentesis from 1998 to 2003. The maternal age and gestational age at amniocentesis, indications, cytogenetic results and complications of amniocentesis were analyzed. Results: A total of 1,653 cases of amniocentesis were performed in 1,590 singleton pregnancies and 32 twin pregnancies. The mean age at amniocentesis of singleton pregnancies was 33.5±4.3 years, and the most common age group was from 35 to 39 (38.6%) and those of twin pregnancies were 33.1±3.6 years and from 30 to 34 (50.0%), respectively. Majority of the cases (78.9%) were performed between 16th and 19th weeks of gestation. Advanced maternal age was the most common indication of amniocentesis (46.2%), followed by abnormal serum screening test (32.9%) and abnormal ultrasonographic findings (10.0%). Abnormal fetal karyotype results were identified in 34 cases (2.1%). 24 cases were numerical aberration and the other 10 cases were structural aberration. Trisomy 21 was the most common abnormal karyotype (23.5%). There was no abnormal karyotype results from 63 amniocentesis performed in twin pregnancies. Positive predictive value of abnormal ultrasonographic finding, advanced maternal age and abnormal serum screening test were 3.0%, 2.5%, 1.5% respectively. The procedure-related fetal death occurred in 7/1,353 (0.51%). Conclusion: Among the several indications of midtrimester amniocentesis, advanced maternal age was the most common indication, whereas abnormal ultrasonographic finding had the most powerful predictive value for abnormal fetal karyotype.
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