超声筛查胎儿主动脉弓缩窄与染色体异常的关系探讨

Study on the relationship between fetal aortic arch narrowing and chromosomal abnormalities in ultrasound screening

目的:分析超声筛查胎儿主动脉弓缩窄的准确性,探讨其与染色体异常的关系。方法:选取2020年1月—2021年10月于惠东县妇幼保健计划生育服务中心产前检出确诊主动脉弓缩窄胎儿40例,均进行超声筛查,归纳胎儿主动脉弓缩窄类型及超声筛查准确性,同时进行染色体微阵列、核型分析,进行跟踪随访,归纳总结胎儿的妊娠结局情况。结果:40例主动脉弓缩窄胎儿经超声诊断,12例为横弓发育不良伴峡部缩窄,18例为峡部局限性缩窄,10例为主动脉弓管状发育不良。以常规心脏筛查切面、主动脉弓特殊切面或手术治疗结果为金标准,超声筛查准确率为100.00%。另外,40例胎儿中,30例胎儿无染色体异常情况,10例胎儿存在染色体异常问题,其中12例胎儿终止妊娠,28例胎儿出生。结论:产前超声筛查诊断胎儿存在主动脉弓缩窄情况后,需联合染色体检查,同时配合定期复查,进而向孕产妇提出合理妊娠建议,保障母婴健康。

Objective To analyze the accuracy of ultrasound screening for fetal aortic arch constriction,and explore its relationship with chromosomal abnormalities.Methods From January 2020 to October 2021,40 fetuses with coarctation of aortic arch diagnosed in Huidong Maternal and Child Health and Family Planning Service Center were selected for ultrasound screening.Ultrasound screening was performed to summarize the types of fetal aortic arch constriction and the accuracy of ultrasound screening.At the same time,chromosomeal microarray,and Karyotype analysis were performed,followed by follow-up,and summarized the pregnancy outcome of the fetus.Results 40 fetuses with aortic arch coarctation were diagnosed by ultrasound.12 had transverse arch dysplasia with isthmic coarctation,18 had limited isthmic coarctation,and 10 had aortic arch tubular dysplasia.Regarding conventional heart screening section,special section of aortic arch or surgical treatment results as the gold standard,the accuracy rate of ultrasound screening was 100.00%.In addition,among the 40 fetuses,30 had no chromosomal abnormalities,and 10 had chromosomal abnormalities.Among them,12 fetuses terminated their pregnancy and 28 fetuses were born.Conclusion After prenatal ultrasound screening diagnoses the presence of aortic arch constriction in the fetus,it needs to be combined with chromosome examinations,and at the same time with regular review,and then make reasonable pregnancy recommendations to pregnant women to protect the health of mothers and babies.