产前筛查染色体异常胎儿相关资料回顾性分析

Prenatal screening for chromosomal abnormalities fetus relevant data were retrospectively analyzed

目的探讨产前提高染色体异常胎儿检出率的有效方法。方法收集2009年1月至2015年11月在大连市妇幼保健院行介入性产前诊断3504例病例染色体异常检出情况及相关因素进行分析总结。结果检出染色体异常胎儿172例(4.9%,172/3504)。其中以高龄、血清学筛查高风险、高危因素和超声异常指标为指征检出率分别为4.2%(63/1503)、2.6%(37/1443)、3.4%(8/236)和19.9%(64/322),超声组检出率最高。172例中21-三体118例,18-三体21例、染色体形态结构畸变19例、性染色体异常12例和13-三体2例。118例21-三体中高龄组40例(2.7%,40/1503)、血清学高风险组33例(2.3%,33/1443)、高危因素组1例(0.4%,1/236)、超声组44例(13.7%,44/322),其中25例为中晚孕超声发现异常指标被检出。高危因素组中有97例孕妇曾出生过21-三体患儿,本次再发风险为0。172例染色体异常胎儿合并超声指标异常共计110例,占64.0%(110/172)。其中21-三体为67.8%(80/118)、18-三体为85.7%(18/21)、13-三体为100%(2/2),性染色体异常中45,XO为100%(6/6),47,XXY为16.7%(1/6);染色体形态结构畸变为21.1%(4/19)。结论产前超声检查可以有效提高染色体异常胎儿的检出率,尤其18-三体、13-三体和45,XO因合并明显结构异常易被超声检出;加强对超声软指标和相关结构异常的识别和重视,可以提高21-三体的产前检出率,尤其中晚孕期可以补充发现一部分因错过早中孕期筛查手段的21-三体胎儿。性染色体异常和染色体形态结构畸变与高龄或夫妇双方染色体异常携带有关,超声检出率低,应加强关注和重视。

Objective：To investigate the prenatal improve the detection rate of fetal chromosomal abnormalities. Methods：from 2009 January to November 2015 in Dalian City Maternal and child health hospital interventional prenatal diagnosis of 3504 cases cases chromosome abnormality and its related factors were analyzed. The results of detection of fetal chromosomal abnormalities 172 cases（4.9%,172/3504）. Which in advanced age pregnant woman,serological screening of high risk,risk factors and abnormal ultrasound index for indications detection rate was 4.2%（63/1503）,2.6%（37/1443）,3.4%（8 / 236）,19.9%（64/322）,ultrasound group detection rate of the highest.In 172 cases,118 cases of trisomy 21,21 cases of trisomy 18,19 cases of chromosome structure aberrations,sex chromosome abnormalities（12 cases）and 2 cases of trisomy 13 118 cases of trisomy 21 in advanced age pregnant woman group 40 cases（2.7% 40/1503）,serological high risk group 33 cases（2.3%,33/1443）and risk factors of group 1 case（0.4% 1/236）,ultrasound group 44 cases（13.7%,44/322）,which 25 cases of late pregnancy ultrasound found abnormalities were detected. risk factors groups have 97 cases of pregnant women were born trisomy 21 children. The recurrence risk for 172 cases of chromosome abnormal fetal combined ultrasound index abnormal for a total of 110 cases,64.0%（110/172）. The trisomy 21 was 67.8%（80/118）,trisomy 18 was 85.7%（18 / 21）,trisomy 13 was 100%（2 / 2）,abnormality of sex chromosome in 45,XO was 100%（6 / 6）,47,XXY was 16.7%（1 / 6）;chromosome structure aberration was 21.1%（4/19）. Conclusion：Prenatal ultrasound examination can effectively improve the detection rate of fetal chromosomal abnormalities,especially trisomy 18,trisomy 13 and 45,XO due to combined structure is obviously abnormal easy were detected by ultrasound;strengthen of ultrasonic soft indexes and structural abnormalities related to the recognition and attention can improve the detection rate of prenatal trisomy 21,especially in the middle and late pregnancy can be supplementary discovery part because of missing the early prenatal screening method of trisomy 21 fetuses. Sex chromosome abnormalities and morphology of chromosome structural aberrations and the elderly or couples both chromosome exception carries on ultrasound detection rate low,should strengthen the concern and attention.