Laboratory Medicine and Quality Assurance

Korean Association of External Quality Assessment Service (대한임상검사정도관리협회)
권호 표지

Cytogenetic Analysis of Amniotic Fluid, CVS, and Abortus in a University Hospital for Ten Years

1개 대학병원에서 10년간 시행한 양수, 융모막융모 및 유산아의 세포유전학적 분석

Choi, Sook-Hyang;Ahn, Jeong -Yeal;Kim, Kyung-Hee;Yang, Hye-Ryun;Lee, Yang-Hee;Yoo, Myoung-Suk;Suh, Han-Ik;Park, Pil-Whan;Seo, Yiel-Hea
최숙향;안정열;김경희;양혜련;이양희;유명숙;서한익;박필환;서일혜

  • Published : 20090600
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Abstract

Background: This study was conducted to analyze, compare, and assess the indications, incidences, and types of chromosomal abnormalities in the amniotic fluid, chorionic villus sampling (CVS), and abortus and to compare these with those previously reported. Methods: The study subjects included 1,995 cases of amniocentesis and 169 cases of abortus, 20 cases of CVS, 21 cases of cord blood, and 2 cases of cardiac-puncture fluid in the last ten years (June 1999 to May 2009). Results: Among the indications, the maternal serum and triple/quad markers testing positive emerged the highest (57.5%). Other factors those were found were an advanced maternal age (over35) (19.5%) and abnormal ultrasonography findings (8.2%). The frequency of chromosomal abnormality in the amniotic fluid was 4.5%, wherein the numerical abnormality was 3.1% and the structural abnormality was 1.4%. Among the numerical abnormalities, trisomy of chromosome 21 emerged the highest (1.4%). The frequency of the chromosomal abnormality of CVS and abortus was 39.1%, the numerical abnormality was 23.7%, and the order of frequency for trisomy was obtained chromosomes 16, 22, and 21. In the sex ratio of the normal chromosomes, it was 1.1%, but it resulted in 0.5% in CVS. Conclusions: The results of this chromosomal study on amniotic fluid, CVS, and abortus could serve as useful data regarding the prenatal genetic abnormalities of fetuses and for genetic consultation.

배경: 양수, 융모막융모 및 유산아의 염색체 검사 결과를 분석하여 적응증, 염색체이상 발생빈도 및 종류를 이전의 보고들과 종합 분석, 비교 평가하였다. 방법: 1999년 6월부터 2009년 5월까지 10년간 염색체검사가 의뢰되어 시행한 양수 1,995예 및 융모막융모 169 예, 유산아 20예, 제대혈액 21예, 심장천자액이 2예를 연구 대상으로 하였다. 결과: 비정상 모체 혈청 표지자 검사가 57.5%로 가장 빈번한 적응증 이었고 35세 고령 임신 19.5%, 초음파 검사의 이상소견 8.2%순이었다, 양수검체의 염색체이상 빈도는 4.5%였으며, 수적이상이 3.1%, 구조적 이상 1.4%였고. 수적이상 중 세염색체증 21이 1.4%로 가장 많았다. 융모막융모 및 유산아의 염색체이상은 39.1%였으며, 수적이상이 23.7%로 세염색체증 16, 22, 21순 이었다. 정상염색체결과에서 양수의 성비는 1.1였고 융모막융모에서는 0.5였다. 결론: 본 연구결과는 양수, 융모막융모 및 유산아의 염색체 검사는 산전 태아이상 유무 및 유전학적 상담의 중요한 자료로 활용될 수 있다.

Keywords

References

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