联合超声筛查在早孕期胎儿严重心脏畸形的应用及染色体异常相关性研究  

Application of combined ultrasound screening in fetal severe cardiac malformation and chromosomal abnormality in early pregnancy

作　　者：王薇[1] 周芳[1] 李文娟[1] 杨彬 WANG Wei;ZHOU Fang;LI Wen-juan;YANG Bin(Department of Ultrasound Medicine,Baoji City Maternal and Child Health Care Hospital of Shaanxi,Shaanxi,Baoji,721000)

机构地区：[1]陕西省宝鸡市妇幼保健院超声医学科

出　　处：《中国优生与遗传杂志》2019年第11期1360-1363,共4页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨联合超声筛查在早孕期胎儿严重心脏畸形的应用及染色体异常相关性。方法选取2016年5月~2018年5月在我院进行产前检查的1656例早孕期(11~13^+6)孕妇作为研究对象,按照孕周把孕妇分为11~11^+6、12~12^+6、13~13^+6共3组,对所有孕妇采用常规超声筛查,记录胎儿严重心脏畸形情况,同时测定NT值,并采用羊水穿刺术对染色体的核型进行检测。结果三组孕妇的胎儿头臀径、NT值随着孕周的增加逐渐增大,组间差异均具有统计学意义(F=3759.163、68.974,P<0.05)。产前超声筛查出心脏畸形51例,心脏畸形率为3.08%,严重心脏畸形38例,占心脏畸形的比例为74.51%;经分娩/引产证实心脏畸形55例,严重心脏畸形40例,占心脏畸形的比例为72.73%。染色体核型异常共检出23例,染色体核型异常率为1.39%,占严重畸形的比例为60.53%,其中21-三体综合征13例,占比56.52%;18-三体综合征9例,占比39.13%;13-三体综合征1例,占比4.35%。三组孕妇严重心脏畸形、染色体差异、严重心脏畸形合并染色体随着孕周的增加逐渐增多,组间差异均具有统计学意义(χ^2=4.403、0.011、0.015,P<0.05)。结论早孕期进行超声筛查,能够检测出胎儿严重心脏畸形以及染色体异常,从而降低严重心脏畸形胎儿的出生率,对优生遗传具有指导和辅助作用,值得临床推广。Objective:To investigate the application of combined ultrasound screening in fetal severe cardiac malformation in early pregnancy and the correlation of chromosomal abnormalities.Methods:1656 pregnant women(11~13^+6)pregnant women who underwent prenatal examination in our hospital from May 2016 to May 2018 were selected as subjects.According to the gestational age,pregnant women were divided into 11~11^+6,12 There were 3 groups of ~12^+6 and 13~13^+6.All the pregnant women were screened by conventional ultrasound to record the serious fetal malformation.The NT value was measured and the karyotype of the chromosome was detected by amniocentesis.Results:The fetal head-hip diameter and NT value of the three groups of pregnant women increased with the increase of gestational age,and the differences between the groups were statistically significant(F=3759.163,68.974,P<0.05).51 cases of cardiac malformation were detected by prenatal ultrasound screening,the rate of cardiac malformation was 3.08%,38 cases of severe cardiac malformation,the proportion of cardiac malformation was 74.51%;55 cases of cardiac malformation confirmed by delivery/induction,40 cases of severe cardiac malformation,accounting for The proportion of cardiac malformations was 72.73%.A total of 23 cases of karyotypic abnormalities were detected,the chromosomal abnormality rate was 1.39%,and the proportion of severe malformations was 60.53%,including 13 cases of 21-trisomy syndrome,accounting for 56.52%;18-trisomy syndrome 9 For example,the proportion was 39.13%;1 case of 13-trisomy syndrome,accounting for 4.35%.The severe cardiac malformations,chromosomal differences,and severe cardiac malformations in the three groups of pregnant women gradually increased with the increase of gestational age,and the differences between the groups were statistically significant(χ^2=4.403,0.011,0.015,P<0.05).Conclusion:Ultrasound screening in early pregnancy can detect fetal severe cardiac malformations and chromosomal abnormalities,thereby reducing the birth rate of

关 键 词：早孕期 严重心脏畸形 超声筛查 染色体异常 

分 类 号：R726.2[医药卫生—儿科]