探讨单脐动脉(SUA)合并其他先天性结构畸形胎儿的临床预后评估。

选择2014年1月1日至2020年12月31日，在广州市妇女儿童医疗中心，于中、晚孕期孕妇胎儿超声检查提示为SUA的1 160例胎儿为研究对象。根据是否合并其他先天性结构畸形，将SUA胎儿分为观察组(n＝175，SUA合并其他先天性结构畸形)和对照组(n＝985，孤立性SUA)。回顾性分析孕妇和SUA胎儿的相关临床资料。采用χ²检验及秩和检验，对2组胎儿染色体异常率、妊娠结局，活产儿出生时情况等进行统计学比较。本研究经广州市妇女儿童医疗中心伦理委员会批准(审批文号：穗妇儿科伦通字〔2019〕第11600号)。所有孕妇对各项检查知情同意，并签署临床研究知情同意书。

①观察组胎儿合并的其他先天性结构畸形共计239个，按照受累系统及占比，前3位依次为心血管畸形、泌尿生殖系统畸形及消化系统畸形，占比分别为43.5%(104/239)、17.5%(42/239)及15.1%(36/239)。②对1 160例SUA胎儿的介入性产前诊断结果显示，其染色体异常率为2.2%(25/1 160)。观察组胎儿染色体异常率为11.4%(20/175)，显著高于对照组胎儿的0.5%(5/985)，并且差异有统计学意义(χ²＝84.046，P<0.001)。观察组胎儿中，合并多发畸形SUA胎儿的染色体异常率为20.0%(10/50)，显著高于合并单一畸形者(8.0%，10/125)，并且差异有统计学意义(χ²＝5.081，P＝0.024)。③随访显示，观察组与对照组胎儿活产、晚期流产、胎死宫内、选择终止妊娠构成比分别为84.6%与98.5%、1.1%与0.1%、4.0%与1.2%及10.3%与0.2%，2组妊娠结局构成比比较，差异有统计学意义(χ²＝69.287，P<0.001)。④观察组活产儿出生胎龄及出生体重分别为38周(36周，39周)与2 820 g(2 240 g, 3 245 g)，均小于或低于对照组的39周(38周，40周)与3 200 g(2 560 g, 3 470 g)；而早产儿及小于胎龄儿比例分别为14.9%、20.3%，均高于对照组的3.7%、9.7%，并且差异均有统计学意义(Z＝－8.019、－4.610，χ²＝32.476、14.575；均为P<0.001)。

对SUA胎儿应常规进行宫内生长指标超声动态监测，并对超声检出胎儿SUA合并其他先天性结构畸形孕妇，进一步进行产前诊断以评估胎儿结局，及时采取措施减少出生缺陷儿出生。

To explore clinical evaluation of fetal prognosis of single umbilical artery (SUA) with other congenital structural malformations.

From January 1, 2014 to December 31, 2020, a total of 1 160 fetuses of SUA revealed by ultrasonic examination among pregnant women in the second and third trimester of pregnancy in Guangzhou Women and Children′s Medical Center were included. According to SUA with other congenital structural malformations or not, they were divided into observation group (n=175, SUA with other congenital structural malformations) and control group (n=985, isolated of SUA). Clinical data of pregnant women and SUA fetuses were retrospectively analyzed. Chi-square test and rank sum test were used to compare fetal chromosomal abnormalities rate, pregnancy outcomes and situations of live births at birth, etc. between 2 groups. This study was approved by the Ethics Committee of Guangzhou Women and Children′s Medical Center (Approval No.[2019] 11600). All pregnant women gave informed consent to all examinations and signed the informed consent forms for clinical research.

① In observation group, there were a total of 239 other congenital structural malformations among 175 SUA fetuses. According to involved system of congenital structural malformations and its proportion, the top three systems were cardiovascular malformations (43.5%, 104/239), urogenital malformations (17.5%, 42/239) and digestive malformations (15.1%, 36/239). ② There were 25 fetuses with chromosome anomalies among 1 160 SUA cases, and chromosome abnormality rate was 2.2%. Chromosome abnormality rate in observation group SUA fetuses was 11.4% (20/175), which was significantly higher than that in control group (0.5%, 5/985), and the difference was statistically significant (χ²=84.046, P<0.001). In observation group, chromosome abnormality rate of SUA fetuses with multiple congenital structural malformations was 20.0% (10/50), which was significantly higher than that of SUA fetus with single congenital structural malformation (8.0%, 10/125), and the difference was statistically significant (χ²=5.081, P=0.024). ③ Follow-up results showed that constituent ratio of live birth, late abortion, intrauterine death and selective termination of pregnancy of fetus in observation group and control group were 84.6% and 98.5%, 1.1% and 0.1%, 4.0% and 1.2%, 10.3% and 0.2%, respectively. There was significant difference of constituent ratio of above pregnancy outcomes between two groups (χ²=69.287, P<0.001). ④ The gestational age at birth and birth weight of live birth infants in observation group were 38 weeks (36 weeks, 39 weeks) and 2 820 g (2 240 g, 3 245 g), respectively, which were smaller or lower than those of 39 weeks (38 weeks, 40 weeks) and 3 200 g (2 560 g, 3 470 g) respectively in control group; while proportions of premature infants and small for gestational age infants in observation group were 14.9% and 20.3%, respectively, which were higher than those of 3.7% and 9.7% respectively in control group, and all differences above mentioned were statistically significant (Z=-8.019, -4.610; χ²=32.476, 14.575; all P<0.001).

For pregnant women with SUA fetus should be dynamic detected intrauterine growth indicators by routine fetal ultrasound, and for pregnant women with fetal SUA and other congenital structural malformation detected by ultrasound, further prenatal diagnosis should performed to evaluate fetal outcome, and take timely measures to reduce birth of a fetus with birth defects.