探讨介入性产前诊断在产前超声中的应用

Application of Interventional Prenatal Diagnosis in Prenatal Ultrasound

目的探讨产前超声中介入性产前诊断的应用。方法回顾性分析2018年9月—2020年3月我院产前超声检查发现各类先天异常孕妇80例,采用REP电泳系统检测十二指肠闭锁,采用G显带分析脐血、羊水细胞染色体,然后分析80例孕妇超声异常胎儿性别分布情况、检查方法、检查结果、临床系统分布情况、妊娠结局。结果80例孕妇超声异常胎儿中,在性别分布情况方面,男性37例,女性36例,不详7例,分别占总数的46.3%、45.0%、8.8%;在检查方法方面,染色体检查74例,占总数的92.5%,其中细胞不生长4例,占5.4%,巴氏水肿胎2例,占50.0%。染色体异常16例,占总数的20.0%,在染色体核型方面,47,XY,+213例,占18.8%,47,XX,+21、47,XY,+18、47,XX,+18、47,XYY,Yqh+、46,XY/47,XY,+21、46,XX/47,XX,+21、46,XY,Yqh+、46,XY,inv(9),Yqh+、46,XX,inv(9)、46,XY,15pstk+、45,XY,der(14;18)(q10;q10)、45,XY,rob(14;15)、45,XO均1例,占6.3%。先天性心脏病16例,神经系统异常7例,消化系统异常5例,泌尿系统异常3例,肢体短小6例,多发畸形16例,水肿胎12例,单脐动脉7例,颈部水囊瘤7例,胎儿生长迟缓7例,分别占总数的20.0%、8.8%、6.3%、3.8%、7.5%、20.0%、15.0%、8.8%、8.8%、8.8%。治疗性引产53例,分娩27例,分别占总数的66.3%、33.8%。结论产前超声中介入性产前诊断的应用价值高。

Objective To explore the application of prenatal ultrasound mediated prenatal diagnosis.Methods 80 cases of pregnant women with various congenital abnormalities from September 2018 to March 2020 were selected for prenatal ultrasound examination in our hospital.Thalassemia was detected by rep electrophoresis system.Chromosome of cord blood and amniotic fluid cells were analyzed by G-banding.Then gender distribution,examination method,examination result,clinical system distribution and pregnancy outcome of 80 pregnant women with ultrasonic abnormalities were analyzed.Results Of the 80 cases of fetal ultrasound abnormalities,37 cases were male,36 cases were female and 7 cases were unknown,accounting for 46.3%,45.0%and 8.8%of the total,respectively;74 cases were chromosomal examination,accounting for 92.5%of the total,including 4 cases of cell non growth,accounting for 5.4%,2 cases of Bartlett dropsy,accounting for 50.0%.In terms of karyotype,47,XY,+213 cases,accounting for 18.8%,47,XX,+21,47,XY,+18,47,XX,+18,47,XYY,Yqh+,46,XY/47,XY,+21,46,X X/47,XX,+21,46,XY,Yqh+,46,XY,inv(9),Yqh+,46,XX,inv(9),46,XY,15 pstk+,45,XY,der(14;18)(q10;q10),45,XY,rob(14;15),45,XO were all 1 case,accounting for 6.3%.There were 16 cases of congenital heart disease,7 cases of nervous system abnormality,5 cases of digestive system abnormality,3 cases of urinary system abnormality,6 cases of limb shortness,16 cases of multiple malformations,12 cases of edematous fetus,7 cases of single umbilical artery,7 cases of neck hydrocystis,7 cases of fetal growth retardation,accounting for 20.0%,8.8%,6.3%,3.8%,7.5%,20.0%,15.0%,8.8%,8.8%and 8.8%of the total respectively.53 cases of therapeutic induced labor and 27 cases of labor accounted for 66.3%and 33.8%respectively.Conclusion The application value of prenatal ultrasound mediated prenatal diagnosis is high.