목적 : 양수천자의 적응증, 임상상, 염색체 핵형 분석 결과 및 합병증을 분석하여 산전 유전진단법으로서의 양수천자의 효용성을 평가하고자 하였다. 연구 방법 : 2000년 1월부터 2002년 12월까지 충남대학교병원 산부인과에서 시행된 325예의 양수천자를 대상으로 산모의 연령과 임신 주수, 검사의 적응증, 천자침의 태반통과유무, 시도횟수, 양수의 변색, 염색체 핵형 분석 결과, 합병증 등을 후향적으로 분석하였다. 결과 : 산모의 연령분포는 30-34세군이 102명 (31.4%)으로 가장 많은 빈도를 보였고, 평균 연령은 32.7세였다. 임신 16-20주 사이가 274예로 85.3%를 차지하였다. 양수천자의 적응증은 모체혈청을 이용한 표지자 선별 검사에서 양성인 경우가 가장 많아서 182예 (56.0%)였고, 다음으로 35세 이상의 고령산모가 108예 (33.2%)이었다. 염색체 핵형 분석의 결과는 전체 325예 중 정상 핵형이 292예 (89.9%), 정상 변이형이 21예 (6.5%), 비정상 핵형은 12예 (3.6%)이었다. 염색체의 수적 이상이 9예 (2.7%), 구조적 염색체 이상이 3예 (0.9%)가 있었다. 상염색체의 수적 이상에는 Down 증후군이 5예, Edward 증후군이 1예가 있었다. 성염색체의 수적 이상에는 47,XXX가 2예, Turner 증후군이 1예가 있었다. 산모의 연령이 증가하면서 염색체 이상의 빈도가 증가하는 경향을 보였다. 양수 천자의 합병증의 발생률은 11.7%였으며, 태아손실률은 7.4%이었다. 산모의 나이, 임신 주수, 천자침의 태반통과, 시도 횟수, 양수 변색, 그리고 항생제 사용은 양수천자의 합병증 발생과 분석결과 통계적인 유의성은 없었다. 결론 : 양수천자는 염색체 이상의 위험성이 높은 산모를 대상으로 산전 유전진단에 유용한 검사이다. 침습적인 술기에 따른 합병증의 발생 요인에 대한 지속적인 연구가 필요하리라 사료된다.

Objective : To analyze the indications, clinical features, cytogenetic results and complications of amniocentesis and to determine the efficacy of antenatal genetic amniocentesis. Methods:We analyzed retrospectively maternal age, gestational age, indications, transplacental puncture, frequency, discoloration of amniotic fluid, karyotype and complications in 325 cases of prenatal genetic amniocentesis performed at Chungnam National University Hospital from January 2000 to December 2002. Results : The most common age group was from 30 to 34 (31.4%) and mean age was 32.7 years old. 85.3% of cases were performed at 16th-20th gestational weeks. Abnormal maternal serum markers were the most common indication of amniocentesis (56.0%) and the second most common indication was maternal age over 35 (33.2%). Abnormal karyotypes were found in 12 cases (3.6%) and normal variants were 21 cases (6.5%). Numerical aberration were 9 cases (2.7%) and structural aberration were 3 cases (0.3%). Among the autosomal aberrations, Down syndromes were 5 cases and Edward syndrome was 1 case. Among the sex chromosomal aberrations, 47,XXX were 2 cases and Turner syndrome was 1 case. As the increasing maternal age, the incidence of abnormal karyotype was increased. Procedure-related complications occurred in 11.7% of cases and fetal loss rate was 7.4%. No significant associations were found between procedure-related complications and maternal age, gestational age, transplacental puncture, frequency, discoloration of amniotic fluid, and antibiotic treatment. Conclusion : Amniocentesis is useful for prenatal genetic diagnosis in pregnancies with increasing risk of chromosome aberrations, such as advanced maternal age, abnormal maternal serum markers or abnormal US findings. Further studies are necessary to identify risk factors of complications after invasive procedure.

Objective : To analyze the indications, clinical features, cytogenetic results and complications of amniocentesis and to determine the efficacy of antenatal genetic amniocentesis. Methods:We analyzed retrospectively maternal age, gestational age, indications, transplacental puncture, frequency, discoloration of amniotic fluid, karyotype and complications in 325 cases of prenatal genetic amniocentesis performed at Chungnam National University Hospital from January 2000 to December 2002. Results : The most common age group was from 30 to 34 (31.4%) and mean age was 32.7 years old. 85.3% of cases were performed at 16th-20th gestational weeks. Abnormal maternal serum markers were the most common indication of amniocentesis (56.0%) and the second most common indication was maternal age over 35 (33.2%). Abnormal karyotypes were found in 12 cases (3.6%) and normal variants were 21 cases (6.5%). Numerical aberration were 9 cases (2.7%) and structural aberration were 3 cases (0.3%). Among the autosomal aberrations, Down syndromes were 5 cases and Edward syndrome was 1 case. Among the sex chromosomal aberrations, 47,XXX were 2 cases and Turner syndrome was 1 case. As the increasing maternal age, the incidence of abnormal karyotype was increased. Procedure-related complications occurred in 11.7% of cases and fetal loss rate was 7.4%. No significant associations were found between procedure-related complications and maternal age, gestational age, transplacental puncture, frequency, discoloration of amniotic fluid, and antibiotic treatment. Conclusion : Amniocentesis is useful for prenatal genetic diagnosis in pregnancies with increasing risk of chromosome aberrations, such as advanced maternal age, abnormal maternal serum markers or abnormal US findings. Further studies are necessary to identify risk factors of complications after invasive procedure.

Amniocentesis, Chromosome aberrations, Complications