CAJ | 학술논문

目的：分析羊水细胞染色体，比较不同异常核型的发生率及其在产前诊断中的应用价值。方法选择2010年1月至2013年9月到该院就诊有产前诊断指征的孕妇6000例，行羊膜腔穿刺术、传代法羊水细胞培养及胎儿染色体核型分析。结果6000例羊水培养成功5994例（99．90％），异常核型193例（3．22％）。其中，染色体数目异常108例，占异常核型的55．96％，以21三体为主，占数目异常的67．59％（73／108）；结构异常60例，占异常核型的31．09％，其中平衡性结构重排38例（19．69％），非平衡性结构重排22例（11．40％）；嵌合体25例（12．95％）。将孕妇按进行穿刺的首要指征分为6组，血清学筛查高风险组和高龄组分别占受检人数41．62％和33．70％，B超检查示胎儿异常组和夫妇一方染色体异常组的核型异常检出率分别为5．56％和20．00％，与其他组比较差异有统计学意义（ P＜0．05）。结论传代法羊水细胞体外培养对核型分析具有实用性。羊水染色体核型分析是安全、有效的诊断胎儿染色体病的方法。
목적：분석양수세포염색체，비교불동이상핵형적발생솔급기재산전진단중적응용개치。방법선택2010년1월지2013년9월도해원취진유산전진단지정적잉부6000례，행양막강천자술、전대법양수세포배양급태인염색체핵형분석。결과6000례양수배양성공5994례（99．90％），이상핵형193례（3．22％）。기중，염색체수목이상108례，점이상핵형적55．96％，이21삼체위주，점수목이상적67．59％（73／108）；결구이상60례，점이상핵형적31．09％，기중평형성결구중배38례（19．69％），비평형성결구중배22례（11．40％）；감합체25례（12．95％）。장잉부안진행천자적수요지정분위6조，혈청학사사고풍험조화고령조분별점수검인수41．62％화33．70％，B초검사시태인이상조화부부일방염색체이상조적핵형이상검출솔분별위5．56％화20．00％，여기타조비교차이유통계학의의（ P＜0．05）。결론전대법양수세포체외배양대핵형분석구유실용성。양수염색체핵형분석시안전、유효적진단태인염색체병적방법。
Objective To analyze the chromosoms of amniotic fluid cells ,to compare the occurrence rate of different karyo‐types an dto investigate their application values in prenatal diagnosis .Methods A total of 6 000 pregnant women with the prenatal diagnostic indications came to our hospital from January 2010 to September 2013 were performed the amniocentesis ,amniotic fluid cell passage culture and fetal chromosomal karyotypes analysis .Results Among 6 000 cases of amniotic fluid cell culture ,5 594 ca‐ses(99 .90% ) were succeeded and 193 cases(3 .22% ) were abnormal karyotypes ,in which 108 cases were the chromosomal number‐ical abnormality ,acounting for 55 .96% of abnormal karyotypes ,Down′s syndrome was predominant and accounted for 67 .59% of chromosomal numberical abnormality .There were 60 cases (31 .09% ) of chromosomal structural abnormality including 38 cases (19 .69% ) of balanced structural rearrangements and 22 cases(11 .40% ) of non‐balanced structural rearrangements .There were 25 cases(12 .95% ) of chimera .The pregnant women were divided into 6 groups according to the amniocentesis chief indication ,the high risk group and high age group of serological screening accounted for 41 .62% and 33 .70% of the detected person number .The detection rates of karyotype abnormality in the fetal B ultrasonographic abnormality group and the couple one party chromosomal abnornality group were 5 .56% and 20 .00% ,respectively ,which were significantly different from other groups (P<0 .05) .Conclu‐sion The amniocyte subculture in vitro is practicable for the karyotype analysis .The karyotype analysis of amniotic fluid chromo‐somes is a safe and effective method for diagnosing the fetal chromosomal diseases .