南方医科大学学报 ›› 2013, Vol. 33 ›› Issue (03): 451-.

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胎儿单脐动脉与胎儿染色体异常疾病的产前诊断

常清贤,陈翠华,钟梅,裘毓雯,肖超群,黄启涛,余艳红   

  • 出版日期:2013-03-20 发布日期:2013-03-20

Prenatal diagnosis of single umbilical artery: implications for chromosomal abnormalities and neonatal outcome

  • Online:2013-03-20 Published:2013-03-20

摘要: 目的分析单脐动脉是否合并其他异常时与胎儿染色体疾病的关系及新生儿预后。方法对本院产前诊断中心2008年1
月~2012年6月通过彩色多普勒超声诊断为单纯性单脐动脉及单脐动脉合并其他异常的胎儿,行羊膜腔穿刺取羊水及脐静脉穿
刺取脐带血,常规进行染色体核型分析并对出生后的婴儿追踪随访观察。结果经超声诊断为单脐动脉进行染色体检查的孕妇
共44名,其中单纯性单脐动脉24例;单脐动脉合并其他异常20例,其中单脐动脉合并超声软指标异常8例,单脐动脉合并胎儿
发育异常12例。单纯性单脐动脉组(n=24)与单脐动脉合并其他异常组(n=20)间分娩孕周和胎儿染色体异常的发生率有显著
性差异。胎儿出生体质量,出生后APGAR评分及胎盘质量间,两组无明显差异。结论对超声检查诊断为单脐动脉的胎儿,特
别合并其他器官发育异常,有必要进行胎儿染色体产前诊断。单纯性单脐动脉的胎儿,需严密行超声检查,避免器官畸形的漏诊。

Abstract: Objective To investigate the implications of a prenatal diagnosis of single umbilical artery (SUA) for chromosomal
abnormalities and neonatal outcomes. Methods From January, 2008 to June, 2012, color Doppler ultrasound identified 44
fetuses with SUA. Prenatal diagnoses with amniocentesis or umbilical blood sampling were subsequently ordered for routine
chromosome karyotyping and the newborns were followed up for assessing the neonatal outcomes. Results Of all the 44
fetuses, 24 had uncomplicated SUA, and 20 had other concurrent abnormalities (including 8 with abnormal ultrasound soft
indexes and 12 with chromosomal abnormalities). The two groups of fetuses showed significant differences in gestational
weeks at delivery and incidence of chromosomal abnormalities but not in neonatal weight, placenta weight or APGAR score.
Conclusions Fetuses with a prenatal diagnosis of SUA and other development abnormities need to undergo prenatal
chromosomal examination. For fetuses with uncomplicated SUA, careful ultrasound examination is necessary to avoid missed
diagnosis of potential congenital abnormalities.