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目的通过分析孕中期高龄孕妇胎儿染色体核型,探讨异常核型的种类与风险。方法回顾性分析2012年10月1日至2015年10月31日,来广西壮族自治区妇幼保健院优生遗传门诊行羊膜腔穿刺的13 006例孕妇的信息,统计各种异常染色体的种类与异常率。结果 13 006例羊水产前诊断标本,其中1690例孕妇的产前诊断指征涉及高龄妊娠或高龄妊娠合并其他产前诊断高危因素,1690例标本中共检测出96染色体异常,主要为21-三体综合征30例;染色体倒位45例,包括39例9号染色体倒位和6例其他染色体倒位;染色体易位21例,包含12例染色体平衡易位,9例染色体罗伯逊易位。结论孕中期高龄或高龄合并其他高危因素的孕妇,应加强产前诊断检测,是减少染色体异常儿出生缺陷率的重要举措。
Objective To analyze the types and risks of abnormal karyotypes by analyzing fetal chromosome karyotypes in pregnant women of second trimester. Methods A retrospective analysis of 13 006 pregnant women who were admitted to the eugenics clinic of Guangxi Zhuang Autonomous Region Maternity and Child Health Hospital from October 1, 2012 to October 31, 2015 was retrospectively analyzed. The types of abnormal chromosomes and abnormal rates . Results 13 006 cases of amniotic fluid prenatal diagnostic specimens, of which 1690 cases of prenatal diagnosis of pregnant women indications related to advanced pregnancy or gestational age associated with other risk factors of prenatal diagnosis, 1690 cases detected 96 chromosomal abnormalities, mainly 21-trisomy Syndrome in 30 cases; 45 cases of chromosome inversion, including 39 cases of chromosome 9 inversions and 6 cases of other chromosome inversion; chromosome translocation in 21 cases, including 12 cases of chromosome balance translocation, 9 cases of chromosome Robertson translocation. Conclusion Pregnant women with advanced or advanced age and other high risk factors during the second trimester should strengthen prenatal diagnosis and test, which is an important measure to reduce the birth defect rate of chromosomal abnormalities.