中华围产医学杂志
中華圍產醫學雜誌
중화위산의학잡지
CHINESE JOURNAL OF PERINATAL MEDICINE
2013年
2期
76-81
,共6页
戚庆炜%蒋宇林%周希亚%刘俊涛%边旭明
慼慶煒%蔣宇林%週希亞%劉俊濤%邊旭明
척경위%장우림%주희아%류준도%변욱명
妊娠中期%羊膜腔穿刺术%核型分析%染色体畸变%唐氏综合征%产前诊断
妊娠中期%羊膜腔穿刺術%覈型分析%染色體畸變%唐氏綜閤徵%產前診斷
임신중기%양막강천자술%핵형분석%염색체기변%당씨종합정%산전진단
Pregnancy trimester,second%Amniocentesis%Karyotyping%Chromosome aberrations%Down syndrome%Prenatal diagnosis
目的 探讨高龄孕妇(预产期年龄≥35岁)胎儿染色体异常的发生率.方法 回顾性分析2001年1月1日至2011年6月30日在中国医学科学院北京协和医院行妊娠中期羊膜腔穿刺术及羊水染色体核型分析的6584例高龄孕妇的病历资料,所有病例行羊膜腔穿刺术的唯一指征是高龄.计算各种胎儿染色体异常的发生率.将高龄孕妇分成年龄35～39岁组和≥40岁组,采用卡方检验比较2组胎儿47,+21、47,+18和性染色体非整倍体的发生率.结果 共检出121例胎儿染色体异常,发生率为18.38‰(121/6854),包括111例非整倍体(含嵌合体)和10例染色体结构异常.非整倍体包括59例47,+ 21 (8.96‰,59/6584)、25例47,+18 (3.80‰,25/6584)、2例47,+13(0.30‰,2/6584)、25例性染色体非整倍体(3.80‰,25/6584).47,+21是胎儿最常见的染色体异常,占全部非整倍体异常的53.15％(59/111),在35～39岁孕妇中的发生率为7.90‰(43/5440),在≥40岁孕妇中的发生率为13.99‰(16/1144),差异有统计学意义(x2=3.937,P=0.047).胎儿47,+18和性染色体非整倍体的发生率在2组孕妇中差异无统计学意义.结论 高龄孕妇胎儿染色体异常以13、18、21号染色体和性染色体非整倍体为主,其中胎儿47,+21的发生率在年龄≥40岁的孕妇人群中显著升高.建议将高龄孕妇的年龄界值设为40岁,对年龄35～39岁的孕妇实施产前血清学筛查,对年龄≥40岁的孕妇直接行羊膜腔穿刺术.
目的 探討高齡孕婦(預產期年齡≥35歲)胎兒染色體異常的髮生率.方法 迴顧性分析2001年1月1日至2011年6月30日在中國醫學科學院北京協和醫院行妊娠中期羊膜腔穿刺術及羊水染色體覈型分析的6584例高齡孕婦的病歷資料,所有病例行羊膜腔穿刺術的唯一指徵是高齡.計算各種胎兒染色體異常的髮生率.將高齡孕婦分成年齡35～39歲組和≥40歲組,採用卡方檢驗比較2組胎兒47,+21、47,+18和性染色體非整倍體的髮生率.結果 共檢齣121例胎兒染色體異常,髮生率為18.38‰(121/6854),包括111例非整倍體(含嵌閤體)和10例染色體結構異常.非整倍體包括59例47,+ 21 (8.96‰,59/6584)、25例47,+18 (3.80‰,25/6584)、2例47,+13(0.30‰,2/6584)、25例性染色體非整倍體(3.80‰,25/6584).47,+21是胎兒最常見的染色體異常,佔全部非整倍體異常的53.15％(59/111),在35～39歲孕婦中的髮生率為7.90‰(43/5440),在≥40歲孕婦中的髮生率為13.99‰(16/1144),差異有統計學意義(x2=3.937,P=0.047).胎兒47,+18和性染色體非整倍體的髮生率在2組孕婦中差異無統計學意義.結論 高齡孕婦胎兒染色體異常以13、18、21號染色體和性染色體非整倍體為主,其中胎兒47,+21的髮生率在年齡≥40歲的孕婦人群中顯著升高.建議將高齡孕婦的年齡界值設為40歲,對年齡35～39歲的孕婦實施產前血清學篩查,對年齡≥40歲的孕婦直接行羊膜腔穿刺術.
목적 탐토고령잉부(예산기년령≥35세)태인염색체이상적발생솔.방법 회고성분석2001년1월1일지2011년6월30일재중국의학과학원북경협화의원행임신중기양막강천자술급양수염색체핵형분석적6584례고령잉부적병력자료,소유병례행양막강천자술적유일지정시고령.계산각충태인염색체이상적발생솔.장고령잉부분성년령35～39세조화≥40세조,채용잡방검험비교2조태인47,+21、47,+18화성염색체비정배체적발생솔.결과 공검출121례태인염색체이상,발생솔위18.38‰(121/6854),포괄111례비정배체(함감합체)화10례염색체결구이상.비정배체포괄59례47,+ 21 (8.96‰,59/6584)、25례47,+18 (3.80‰,25/6584)、2례47,+13(0.30‰,2/6584)、25례성염색체비정배체(3.80‰,25/6584).47,+21시태인최상견적염색체이상,점전부비정배체이상적53.15％(59/111),재35～39세잉부중적발생솔위7.90‰(43/5440),재≥40세잉부중적발생솔위13.99‰(16/1144),차이유통계학의의(x2=3.937,P=0.047).태인47,+18화성염색체비정배체적발생솔재2조잉부중차이무통계학의의.결론 고령잉부태인염색체이상이13、18、21호염색체화성염색체비정배체위주,기중태인47,+21적발생솔재년령≥40세적잉부인군중현저승고.건의장고령잉부적년령계치설위40세,대년령35～39세적잉부실시산전혈청학사사,대년령≥40세적잉부직접행양막강천자술.
Objective To calculate the incidence of chromosomal abnormalities at second trimester in women who were 35 or older at their expected date of birth.Methods The amniocentesis and karyotyping results in Peking Union Medical College Hospital from January 1st,2001 to June 30th,2011 were retrospectively analyzed.The only indication for amniocentesis in these group of woman was advanced maternal age.A total of 6584 cases Were included in this study and were divided into two groups according to maternal age,ie.35-39 and ≥40 year old group.The incidences of fetal 47,+ 21,47,+ 18 and sex aneuploidies were calculated and compared between two groups by Chi-square test.Results Altogether,121 cases were diagnosed to be abnormal chromosome,and the overall incidence was 18.38‰ (121/6584).The abnormal karyotypes included 111 cases of aneuploidies (mosaicism included) and 10 cases of structural abnormalities.The aneuploidies included 59 cases of 47,+21 (8.96‰,59/6584),25 cases of 47,+18 (3.80‰,25/6584),2 cases of 47,+13 (0.30‰,2/6584) and 25 cases of sex aneuploidies (3.80‰,25/6584).Fetal 47,+21 was the most frequent chromosomal abnormality,accounting for 53.15％ (59/111) of all aneuploidies.The incidence of fetal 47,+21 was significantly higher in ≥40 year-old group than that of 35-39 year old group[13.99‰(16/1144) vs 7.90‰(43/5440),x2=3.937,P=0.047].There were no statistical differences of the incidences of fetal 47,+ 18 and sex aneuploidies between the two groups.Conclusions The main fetal chromosomal abnormalities in women aged 35 and older are the aneuploidies of chromosome 21,18,13 and sex chromosomes.The incidence of fetal 47,+21 is significantly increased in the women aged 40 years and older.So prenatal screening should be provided first to women at 35-39 years of age and amniocentesis should be the first choice of prenatal diagnosis for women over 40 years old.
