摘要
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％0，25／6584）、2例47，＋13（0．30％o，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13．99X。（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。
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 {or 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. 380/ooo （121/6584）. The abnormal karyotypes included 111 cases of aneuploidies （mosaicism included） and 10 cases of structural abnormalities. The aneuptoidies included 59 cases of 47,＇＋ 21 （8.96%o, 59/6584）, 25 cases of 47, 4-18 （3.80o/ooo, 25/6584）, 2 cases of 47,＋13 （0.30%o, 2/6584） and 25 cases of sex aneuploidies （3.80%o, 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 yea^old group ~13.99~/000（16/1144） vs 7.90X0（43/5440）, Z2 =3. 937, P=0. 047]. There were no statistical differences of the incidences of ＇fetal 47, -c 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.
出处
《中华围产医学杂志》
CAS
北大核心
2013年第2期76-81,共6页
Chinese Journal of Perinatal Medicine
基金
国家科技支撑计划（2006BA105A10）
关键词
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
Pregnancy trimester, second
Amniocentesis
Karyotyping
Chromosomeaberrations
Down syndrome
Prenatal diagnosis
