超声异常胎儿产前诊断及妊娠结局的研究

Prenatal diagnosis and pregnancy outcome of ultrasound abnormal fetus

目的分析超声异常胎儿的产前诊断资料和妊娠结局以评估超声指标在产前筛查中的价值。方法选取2016年1月至2018年12月我院产前超声异常胎儿1182例产前诊断资料及妊娠结局进行回顾性分析。结果 1182例超声异常胎儿中检出染色体、基因和TORCH结果异常191例,检出率为16.16%,其中染色体异常检出率为9.42%(105/1115),数目异常占82.86%(87/105),主要为21-三体(51例)、18-三体(21例)和特纳综合征(8例);基因异常检出率为43.03%(142/330),其中致病性基因占25.35%(36/142),包括染色体正常胎儿14例;重型α地贫检出率为53.70%(58/108),检出--^SEA/--^THAI基因型1例(9.26,1/58);TORCH中仅检出CMV阳性9例,检出率为0.81%(9/1118)。1182例胎儿中有致病性遗产学因素、CMV感染合并畸形及有重大畸形的273例终止妊娠,12例流产终止妊娠,分娩的新生儿中包早产儿23例、死亡4例和缺陷儿5例,主要缺陷为先天性心脏病。结论超声异常胎儿与染色体异常、基因异常、先天性宫内感染及不良妊娠结局相关,应重视超声异常胎儿的产前诊断。

Objective:To analyze the prenatal diagnostic data and pregnancy outcomes of fetuses with abnormal ultrasound in order to evaluate the value of ultrasound in prenatal screening.Methods:The prenatal diagnosis data and pregnancy outcomes of 1182 fetuses with abnormal prenatal ultrasound from January 2016 to December 2018 in our hospital were retrospectively analyzed.Results:191 cases of abnormal chromosomes,genes and TORCH results were detected in 1182 fetuses with ultrasound abnormalities,the detection rate was 16.16%.Among them,the detection rate of chromosomal abnormalities was 9.42%(105/1115),the number of abnormalities accounted for 82.86%(87/105),mainly 21-trisomy(51 cases),18-trisomy(21 cases)and Turner syndrome(8 cases);the detection rate of gene abnormalities was 43.03%(142/330),of which pathogenic genes accounted for 25.35%(36/142).There were 14 fetuses with normal chromosomes,53.70%(58/108)with severe alpha thalassemia,1 case with SEA/-THAI genotype(9.26,1/58)and only 9 cases with CMV positive in TORCH,with a detection rate of 0.81%(9/1118).Among 1182 fetuses,273 terminated pregnancy,12 terminated pregnancy by abortion,23 premature infants,4 deaths and 5 defective infants were the main defects,including congenital heart disease.Conclusion:Ultrasound abnormal fetuses are associated with chromosome abnormalities,gene abnormalities,congenital intrauterine infection and adverse pregnancy outcomes.Prenatal diagnosis of ultrasound abnormal fetuses should be emphasized.