摘要
目的通过各产前诊断指征孕妇羊水细胞染色体核型分析探讨产前诊断策略。方法对各产前诊断指征孕妇选择羊膜腔穿刺抽取羊水并统计分析染色体核型。结果各产前诊断指征中占比例最高的分别为血清学筛查高风险(4641例)、高龄(1774例)和超声异常(569例)。7915例羊水细胞染色体核型共检出异常核型265例,检出率为3.35%,其中检出率最高的指征是夫妇一方是染色体异常或平衡易位携带者(23.18%),其次是超声异常(9.83%)。染色体数目异常188例,其中常染色体非整倍体异常以21,18三体最为常见,性染色非整倍体异常以45,X最为常见;结构异常77例,以平衡易位为主。21三体主要分布在高龄、血清筛查高风险及超声异常中,尤以高龄最为显著。结论 1通过羊膜腔穿刺及染色体核型分析仍然是产前诊断胎儿染色体异常的金标准;221三体是最常见的染色体异常;3无创产前DNA检测技术不能取代血清学筛查,更不能取代羊膜腔穿刺和超声检查,它们合理组合应用方能更好地进行产前诊断。
Objective：To explore the strategies of prenatal diagnosis through karyotype analysis of amniotic fluid in pregnant women with indications. Methods：The amniotic fluid was extracted from pregnant women with indications and the karyotype analysis was performed. Results：Among the prenatal diagnosis indications,the most frequent referral indication of them were positive result of maternal serum screening tests（MSS）（4641 cases）,advanced maternal age（AMA）（1774 cases）and pathological ultrasound findings（PUF）（569 cases）. Out of the 7915 Cases,chromosome abnormality was found in 265 cases and the detection rate was 3.35%.The highest detection rate of the chromosome abnormality was in group of either mother or father with balanced translocation carriers（23.18%）,followed by PUF（9.83%）.out of the 188 cases with chromosome numerical abnormality,trisomy 21 and 18 were the most common in autosomal aneuploidy while 45,X was the most common in sex chromosome aneuploidy;and out of the 77 cases with chromosome structural abnormality,balanced translocation was prominent. The trisomy 21 was mainly detected in referral indications of AMA,MSS and PUF, especially in AMA. Conclusion：First,amniocentesis combined with karyotype analysis is still the gold standard for prenatal diagnosis of fetal chromosomal diseases;second,trisomy 21 is the most common chromosomal abnormality in foetuses;third,noninvasive prenatal DNA testing technology cannot replace MSS,not to mention amniocentesis or ultrasound examination,they should be reasonably combined with each other for better prenatal diagnosis.
作者
郑安舜
尹婷
周保成
章荣
王绪云
顾莹
ZHENG An-shun YIN Ting ZHOU Bao-cheng ZHANG Rong WANG Xu-yun GUYing.(Department of reproductive genetics, Lianyungang Maternal and Child Health-Care Center, Jiamgsu Lianyungang 22200)
出处
《中国优生与遗传杂志》
2016年第11期43-45,共3页
Chinese Journal of Birth Health & Heredity
