单脐动脉胎儿的产前诊断及预后

Prenatal diagnosis and prognosis of single umbilical artery

目的探讨单脐动脉(SUA)与胎儿发育异常、染色体畸变的关系及预后。方法回顾性分析336例SUA的产前诊断结果,随访其妊娠结局及活产婴儿预后。结果①根据超声结果将其分为3组:孤立的单脐动脉(ISUA)组216例(64.3%),合并胎儿结构畸形组51例(15.2%)及合并其他异常组69例(20.5%)。②336例SUA胎儿染色体核型异常20例(5.9%),多态性10例。三组染色体核型异常检出率分别为1.4%(3/216)、23.5%(12/51)及7.2%(5/69),三组差异均有统计学意义(P<0.05)。③336例SUA中流产1例;死胎9例;优生引产46例;活产280例,其中早产28例,低出生体质量儿39例,出生时新发现先天畸形11例;活产婴儿中1例夭折,1例一侧听力障碍,14例先天畸形手术治疗,其余体格发育及智力与同龄儿无明显差别。结论SUA与胎儿发育异常、染色体畸变、不良妊娠结局有关,SUA胎儿应行系统超声排查其他异常,并列为高危儿严密监测及随访,合并结构畸形或其他异常者应建议行侵入性产前诊断。

Objective:Investigate the relationship between single umbilical artery(SUA)and fetal dysplasia,chromosome aberration and prognosis.Methods:The prenatal diagnosis results of 336 cases of SUA were retrospectively analyzed.The pregnancy outcome and prognosis of live birth infants were followed up.Results:①According to the results of ultrasound,they were divided into three groups:isolated single umbilical artery(ISUA)group 216 cases(64.3%),fetal malformation group 51 cases(15.2%)and other abnormal group 69 cases(20.5%).②20 cases(5.9%)had abnormal karyotype in 336 fetuses,and 10 cases were polymorphic in SUA.The detection rates of abnormal karyotypes in the three groups were 1.4%(3/216),23.5%(12/51)and 7.2%(5/69)respectively.The differences among the three groups were statistically significant(P<0.05).③Among 336 cases of SUA,1 case was abortion,9 cases were stillbirth,46 cases were induced by eugenics,280 cases were live births,including 28 cases of premature delivery,39 cases of low birth weight infants,11 cases of congenital malformations were newly found at birth,1 case died in live births,1 case of unilateral hearing impairment,14 cases of congenital malformations were treated by surgery,the rest of them had no significant difference in physical development,intelligence with the same age infants.Conclusions:SUA is associated with fetal abnormalities,chromosomal aberrations,and adverse pregnancy outcomes.The SUA fetus should be systematically screened for other abnormalities and classified as high-risk infants for close monitoring and follow-up.The invasive prenatal diagnosis should be recommended for those with structural abnormalities or other abnormalities.