超声诊断的短股骨胎儿产前诊断结果和随访研究  

Prenatal diagnosis and follow-up of fetuses withshort femur detected by ultrasonography

作　　者：樊晋余 刘月芳 潘琼[3] FAN Jinyu;LIU Yuefang;PAN Qiong(Department of Obstetrics,Huai′an Maternal and Child Health-Care Center Af filiated to Medical College of Yangzhou University,Jiangsu Huai′an 223002,China;Institute of Medical Genetics and Reproductive Immunity,The Digestive and Reproductive System Cancers Precise Prevention Engineering Research Center of Jiangsu Province,Jiangsu College of Nursing,Jiangsu Huai′an 223005,China;Department of Medical Genetics and Prenatal Diagnosis,Huai′an Maternal and Child Health-Care Center Affiliated to Medical College of Yangzhou University,Jiangsu Huai′an 223002,China)

机构地区：[1]扬州大学医学院附属淮安市妇幼保健院产科,江苏淮安223002 [2]医学遗传与生殖免疫研究所,江苏省消化与生殖系统肿瘤精准防控工程研究中心,江苏护理职业学院,江苏淮安223005 [3]扬州大学医学院附属淮安市妇幼保健院医学遗传与产前诊断科,江苏淮安223002

出　　处：《中国妇幼健康研究》2024年第12期66-72,共7页Chinese Journal of Woman and Child Health Research

基　　金：江苏省妇幼健康项目(F201714、F201707);江苏省新药研究与临床药学重点实验室(XZSYSKF2020024);淮安市自然科学研究计划(HAB202217)。

摘　　要：目的对胎儿股骨发育小于两个标准差及以上(≤-2SD)孕妇的产前诊断结果、妊娠结局及胎儿出生后生长水平情况进行分析,从而更好地促进短股骨(SF)胎儿的产前优生咨询。方法选取2018年12月至2022年12月期间因超声诊断股骨发育≤-2SD,就诊于淮安市妇幼保健院产前诊断中心行介入性产前诊断的35例孕妇为研究对象。依据胎儿超声表现分为单纯SF组和SF合并其他超声异常组。对两组产前诊断结果包括染色体微阵列(CMA)和家系全外显子组测序(Trio-WES)、妊娠结局、生长水平进行随访和比较分析。结果SF胎儿致病性染色体异常诊断率为5.71%(2/35),其中单纯SF组和SF合并超声异常组分别为4.76%(1/21)和7.14%(1/14)。SF胎儿Trio-WES总体诊断率为26.32%(5/19),其中单纯SF组和SF合并超声异常组分别为33.33%(4/12)和14.29%(1/7)。孕有SF胎儿的孕妇引产率22.86%(8/35)、妊娠丢失率17.14%(6/35)、活产率54.29%(19/35)。两组之间引产率、妊娠丢失率、活产率均无统计学差异(P>0.05)。SF胎儿出生后成功随访19例,为3~48月龄,均未见其他异常,身高水平处于下等和中下等的频率为57.89%(11/19),其中单纯SF组和SF合并超声异常组分别为63.64%(7/11)和50.00%(4/8),两组差异无统计学意义(P>0.05)。结论SF胎儿染色体异常诊断率5.71%,Trio-WES诊断率26.32%,二者联合应用是SF遗传学病因诊断的优化组合。排除遗传学原因后SF胎儿相关孕妇仍有较高的丢失率。SF胎儿出生后、身高水平位于中下等的频率较高。Objective To promote and benefit prenatal consultation for families with fetuses affected by short femur(SF)(≤-2SD),the prenatal diagnosis results and pregnancy outcomes of pregnant women with fetuses with SF and postnatal growth levels of SF fetus were analyzed.Methods A total of 35 pregnant women who were diagnosed with femoral development≤-2SD through ultrasound and received invasive prenatal diagnosis at the department of prenatal diagnosis of Huai′an Maternal and Child Health-Care Center between December 2018 and December 2022 were selected for the study.According to the fetal ultrasound findings,the fetus was divided into the isolated SF group and the SF with other abnormal ultrasound findings group.The prenatal diagnosis results including chromosomal microarrays(CMA)and trio whole exome sequencing(Trio-WES),pregnancy outcomes,and growth levels between the two groups were followed up and compared.Results The pathogenic chromosomal abnormality diagnosis rate for SF fetuses was 5.71%(2/35),with 4.76%(1/21)in the isolated SF group and 7.14%(1/14)in the SF with other ultrasound abnormalities group.The overall Trio-WES diagnostic rate for SF fetuses was 26.32%(5/19),with 33.33%(4/12)in the isolated SF group and 14.29%(1/7)in the SF with other ultrasound abnormalities group.The induction rate for pregnant women with SF fetuses was 22.86%(8/35),the pregnancy loss rate was 17.14%(6/35),and the live birth rate was 54.29%(19/35).There were no statistically significant differences between the two groups in terms of induction rate,pregnancy loss rate,or live birth rate(P>0.05).After birth,19 SF fetuses were successfully followed up,aged 3 to 48 months,and no other abnormalities were observed.The height level was in the lower and lower-middle range in 57.89%(11/19),with 63.64%(7/11)in the isolated SF group and 50.00%(4/8)in the SF with other ultrasound abnormalities group.There was no statistically significant difference between the two groups(P>0.05).Conclusion The chromosomal abnormality diagnosis rate for SF fe

关 键 词：短股骨 产前诊断 妊娠结局 生长水平 随访 

分 类 号：R173[医药卫生—妇幼卫生保健]