陵水黎族自治县胎儿肢体畸形超声筛查结果及其与染色体异常的相关分析

Ultrasound screening results and its correlation analysis with chromosome abnormality of fetal limb malformation in Lingshui Li Autonomous County

目的了解陵水黎族自治县胎儿肢体畸形的患病情况及评价超声在其产前筛查诊断中的临床价值,并分析胎儿肢体畸形与染色体异常的相关性。方法选取2019年1月至2021年3月在陵水黎族自治县人民医院行系统筛查的孕14~23周孕妇4752例作为研究对象,采用连续序贯弧形超声扫查法观察胎儿肢体发育情况及姿势形态,对肢体异常胎儿进行跟踪随访,同时建议其行侵入性染色体检查,并与侵入性染色体检查及引产后结果对照分析。结果超声检出胎儿肢体畸形39例,检出率约8.21‰(39/4752),与引产后大体标本比较,误诊1例,漏诊0例,超声诊断符合率为97.44%(38/39)。在38例胎儿肢体畸形中,包括手(足)畸形、四肢短小、桡骨发育不全、软骨发育不全及成骨发育不全,同时合并其他系统畸形中以心脏畸形和神经系统异常为多见,其中对35例进行侵入性染色体检查,结果26例(74.29%)染色体正常,9例(25.71%)染色体异常。结论海南省陵水黎族自治县胎儿肢体畸形发病率约8.00‰,而产前连续序贯弧形超声扫查法是筛查胎儿肢体畸形的首选方法,同时产前超声诊断提示胎儿肢体畸形可作为胎儿侵入性染色体筛查的重要指征。

Objective To investigate the prevalence of fetal limb deformities in Lingshui Li Autonomous County and evaluate the clinical value of ultrasound in prenatal screening and diagnosis,and analyze the correlation between fetal limb deformities and chromosomal abnormalities.Methods A total of 4752 pregnant women ranging from 14 to 23 weeks who underwent systematic screening in Lingshui Li Autonomous County People’s Hospital from January 2019 to March 2021 were selected as the research subjects.The development of fetal limbs and postural morphology were observed by continuous sequential arc ultrasound scanning.All fetuses with abnormal limbs were followed up,and intrusive chromosomal examination was recommended,which was compared with the results of intrusive chromosomal examination and induced labor.Results 39 cases of fetal limb deformity were detected by ultrasonography,and the detection rate was about 8.21‰(39/4752).Compared with gross specimens after labor induction,1 case was misdiagnosed and 0 case was missed.The coincidence rate of ultrasound diagnosis was 97.44%(38/39).38 cases of fetal limb deformity included hand(foot)deformities,limb microsomia,radial hypoplasia,achondroplasia,and osteogenic hypoplasia.And combined with other system malformation,heart malformation and nervous system abnormality was more common.Among them,35 cases underwent invasive chromosomal examination.Results showed that 26 cases(74.29%)had normal chromosomal abnormalities,and 9 cases(25.71%)had abnormal chromosomal abnormalities.Conclusion The incidence of fetal limb deformity was 8.00‰in Lingshui Li Autonomous County,Hainan Province.And the prenatal sequential arc ultrasonography is the preferred method for screening fetal limb deformity.And prenatal ultrasound diagnosis suggested that fetal limb deformity could be an important indicator for fetal invasive chromosome screening.