孕中期胎儿心血管畸形超声检测NT值与染色体核型检测的关系探讨

目的探讨孕中期胎儿心血管畸形超声检测NT值与染色体核型检测的关系。方法选取2015年1月至2017年12月因胚胎发育不良(心脏发育畸形或异常)于本院行产前检测的孕妇108例,所有产妇均于孕24~35w行超声NT检查和经腹脐静脉穿刺术取胚胎绒毛组织的染色体核型检测,观察染色体核型检测情况,分析染色体核型检测正常与异常胎儿的超声NT值差异,并采用spearman相关性分析法分析胎儿超声NT值与染色体核型检测是否正常的相关性。结果108例病例中,染色体核型检测正常者30例(27.78%),染色体核型检测异常者78例(占比72.22%)。染色体核型检测正常胎儿心血管超声NT层厚值(3.83±0.54mm)低于染色体核型检测异常胎儿(4.64±0.63mm)(P<0.05)。spearman相关性分析显示,胎儿超声NT值与染色体核型检测是否正常具有明显的负相关性(r=0.871,P=0.018<0.05)。15例继续妊娠至分娩的胎儿中,10例(包括7例染色体核型检查异常胎儿)出生后心脏功能发育异常(或畸形),其余5例出生后未出现心脏功能发育异常(或畸形),且随访至12个月仍未出现心脏功能发育异常(或畸形)。结论通过染色体核型检测对心血管畸形胎儿绒毛组织进行染色体核型检测,可发现染色体中小至100Kb片段的缺失或重复,也可发现潜在致病基因序列,孕中期胎儿心血管超声检测NT值与染色体核型检测是否正常具有明显相关性,可作为心血管发育畸形胎儿染色体核型检查的参考指标,超声检测NT检查和染色体核型检测在胎儿心血管畸形的临床诊断中均具有良好的前景。

Study on the relationship between NT value detected by ultrasound and karyotype detection of fetal cardiovascular malformations in the second trimester of pregnancy

Objective:To explore the relationship between NT value detected by ultrasonography and karyotype detection of fetal cardiovascular malformations in the second trimester of pregnancy.Methods:108 pregnant women with fetal dysplasia(cardiac malformation or abnormality)were selected from January 2015 to December 2017.All pregnant women underwent NT ultrasonography and chromosome karyotype detection of fetal villi by transabdominal umbilical vein puncture from 24 to 35 weeks of gestation.The chromosome karyotype detection was observed and the difference of NT value between normal and abnormal fetuses was analyzed.The correlation between fetal ultrasound NT value and chromosome karyotype was analyzed by Spearman correlation analysis.Results:Among 108 cases,30(27.78%)had normal karyotype and 78(72.22%)had abnormal karyotype.The NT thickness of normal fetus was lower than that of abnormal fetus by chromosome karyotype test(4.64+0.63 mm)(P<0.05).Spearman correlation analysis showed that fetal ultrasound NT value was negatively correlated with chromosome karyotype(r=0.871,P=0.018<0.05).Among the 15 fetuses who continued pregnancy to give birth,10(including 7 fetuses with abnormal karyotype)had abnormal cardiac function(or malformation)after birth,and the other 5 had no abnormal cardiac function(or malformation)after birth,and no abnormal cardiac function(or malformation)was found after 12 months of follow-up.Conclusion:Chromosome karyotype analysis of chorionic villus of fetuses with cardiovascular malformations can reveal the deletion or duplication of small to 100 Kb fragments of chromosomes and the sequence of potential pathogenic genes.The NT value detected by fetal cardiovascular ultrasound during the second trimester of pregnancy is significantly correlated with the normal karyotype of fetuses with cardiovascular malformations.It can be used as a chromosome karyotype examination of fetuses with cardiovascular malformations.Ultrasound NT test and chromosome karyotype test have good prospects in the clinical diagnosis of fetal cardiovascular malformations.