怀化地区产前诊断91例染色体异常核型分析  

Analysis of 91 cases of abnormal karyotype of chromosome in prenatal diagnosis in Huaihua are

作　　者：冯宗辉 

机构地区：[1]怀化市妇幼保健院产前诊断中心,湖南418000

出　　处：《中国优生与遗传杂志》2013年第9期46-47,共2页Chinese Journal of Birth Health & Heredity

摘　　要：目的通过对近4年怀化地区羊水细胞染色体异常核型产前诊断指征分析,探讨产前诊断指征在预防出生缺陷的价值。方法回顾2008年7月30日至2012年7月30日间在我院因产前血清筛查21-三体(DS)高风险、18-三体(ES)高风险、超声检查疑胎儿染色体异常:如单脐动脉、羊水过多、胎儿侧脑室轻度扩张、胎儿脉络丛囊肿\多发畸形等原因行羊膜腔穿刺进行产前诊断的胎儿染色体核型分析。结果 1664例产前诊断中发现胎儿染色体异常91例,染色体异常检出率5.47%。其中性染色体异常12例、性染色体合并常染色体异常1例、18三体9例、21三体11例(游离型8例,易位型3例)、13三体3例、平衡易位2例、臂间倒位18例,16号染色体异染色质重复8例、多倍体3例、其它异常34例。91例异常因胎儿发育异常为指征有28例,DS高风险44例,ES高风险8例、β-HCGMOM值增高5例、年龄高风险6例。结论孕期的产前血清筛查是预防出生缺陷的有效措施,年龄≥35岁的孕妇直接行产前诊断仍是有必要的,血清筛查的单项中倍数值异常增高、胎儿结构异常和超声软指标与染色体异常有较高的相关性。Objective ： through the analysis of indication in nearly 4 years in Huaihua area of amniotic fluid cells abnormal karyotype of chromosome in prenatal diagnosis, prenatal diagnosis indications on the prevention of birth defects of the value. Methods ： From July 30 2008 to July 2012 in our hospital due to the high risk of prenatal serum screening 21 - trisomy （DS）, 18 - three - body high - risk （ES）, ultrasonography of fetal chromosomal abnormalities such as fetal karyotype： single umbilical artery, polyhydramnios, mild ventriculomegaly, fetal choroid plexus cyst, multiple deformity underwent amniocentesis for prenatal diagnosis analysis. Results： 1664 cases of prenatal diagnosis of fetal chromosome abnormalities found in 91 cases, the detection rate of abnormal chromosome 5.47%. The sex chromosomes in 12 cases, abnormal sex chromosome and chromosome abnormalities in 1 cases, 9 cases of trisomy 18, trisomy 21 in 11 cases （8 cases, 3 cases with free translocation type）, 3 cases of trisomy 13, 2 cases of balanced translocation, pericentric heterochromatin of chromosome 16 in 18 cases, 8 cases, 3 repeated polyploid cases, the abnormality in 34 cases. In 91 cases of abnormal due to abnormal development of fetus as indications of 28 cases, DS 44 cases with high risk, high risk of 8 cases of ES, β - HCGMOM values increased in 5 cases, 6 cases of high risk age. Conclusion： Prenatal serum screening in pregnancy are effective measures to prevent birth defects, 35 years of age or older pregnant women underwent prenatal diagnosis is still necessary, serum screening single numerical abnormality in times, higher fetal structural abnormalities and ultrasonic soft indexes and chromosomal abnormalities associated.

关 键 词：产前诊断 染色体异常 产前筛查 遗传咨询 

分 类 号：R714.55[医药卫生—妇产科学]