胎儿颈项透明层增厚与染色体异常、妊娠结局的关系

Relationship between the thickening of the fetal nuchal translucency and chromosome abnormality, pregnancy outcome

目的探讨胎儿颈项透明层(NT)增厚与染色体异常、妊娠结局的关系。方法回顾性分析赣州市妇幼保健院2019年1月至2020年12月收治的120例11~13+6孕龄胎儿NT增厚患者作为研究对象,统计胎儿染色体检查结果及超声结构异常情况,并随访妊娠结局及胎儿出生后情况。结果120例NT增厚者中,100例(83.33%)正常妊娠,20例(16.67%)诊断结果为染色体疾病而进行引产,经染色体微阵列检测其中有7例胎儿检测出染色体核型异常,13例胎儿检查出拷贝数变异。100例正常妊娠者中,检查出染色体异常发生率为20.00%(20/100),高于常模人群,差异有统计学意义(P<0.05)。正常妊娠者中,孕妇年龄<35岁者的染色体异常发生率低于年龄≥35岁者,差异有统计学意义(P<0.05)。超声结构异常者的染色体异常率高于超声结构正常者,差异有统计学意义(P<0.05)。结论孕妇年龄≥35岁、超声结构异常时,NT增厚胎儿染色体异常的发生率增高,NT增厚行染色体核型检查发现染色体异常者的妊娠结局及胎儿出生后情况较差。

Objective To investigate the relationship between fetal nuchal translucency(NT)thickening and chromosome abnormality,pregnancy outcome.Methods A total of 120 patients with fetal NT thickening at 11-13+6 weeks of gestation were retrospectively analyzed in Ganzhou Maternal and Child Health Hospital from January 2019 to December 2020.The results of fetal chromosome examination and abnormal ultrasonic structure were analyzed,and the pregnancy outcome and postnatal condition were followed up.Results Among the 120 cases of NT thickening,100 cases(83.33%)had normal pregnancy,and 20 cases(16.67%)were diagnosed as chromosomal diseases and induced labor.Among them,7 fetuses were detected as chromosomal karyotype abnormalities and 13 fetuses were detected as copy number variations by chromosome microarray analysis test.In 100 normal pregnancies,the incidence of chromosome abnormality was 20.00%(20/100),which was higher than that of normal population,and the difference was statistically significant(P<0.05).Among normal pregnancies,the incidence of chromosomal abnormalities in pregnant women<35 years old is lower than that in pregnant women≥35 years old,the difference was statistically significant(P<0.05).The rate of chromosomal abnormality in patients with abnormal ultrasound structure was higher than that in patients with normal ultrasound structure,the difference was statistically significant(P<0.05).Conclusion It can be seen from the above results that the incidence of chromosome abnormality of fetus with NT thickening increases when the pregnant woman is older than 35 years and the ultrasound structure is abnormal.Chromosome karyotype examination with NT thickening showed that the pregnancy outcome and fetal postnatal condition of the abnormal chromosome were poor.