Department of Obstetrics and Gynecology, Haukeland University Hospital, Bergen, Norway.
Department of Global Public Health and Primary Care, University of Bergen, Bergen, Norway.
Ultrasound Obstet Gynecol. 2020 Apr;55(4):510-515. doi: 10.1002/uog.20359.
Single umbilical artery (SUA) is associated with congenital malformations in most organ systems, but reported findings have not been consistent. While it has been suggested that genetic and persisting environmental factors influence the development of SUA, it is not known whether there is an increased risk of recurrence in a subsequent pregnancy of the same woman. The aims of this study were to investigate the occurrence of, and risk factors for, SUA in Norway, to assess its association with congenital malformations and trisomies 13, 18 and 21 and to study the risk of recurrence of SUA in subsequent pregnancies.
This was a population-based study of all (n = 918 933) singleton pregnancies of > 16 weeks' gestation recorded in the Medical Birth Registry of Norway from 1999 to 2014. To identify risk factors and congenital malformations associated with SUA, generalized estimating equations and logistic regression were used to calculate odds ratios (OR) with 95% CIs. ORs were also calculated for the recurrence of SUA in subsequent pregnancy.
The occurrence of SUA in our population was 0.46% (4241/918 933). Parity ≥ 4, smoking, maternal pregestational diabetes, epilepsy, chronic hypertension, previous Cesarean delivery and conception by assisted reproductive technology increased the odds of having SUA. There was a particularly strong association between SUA and gastrointestinal atresia or stenosis in the neonate, with ORs of 25.8 (95% CI, 17.0-39.1) and 20.3 (95% CI, 13.4-30.9) for esophageal and anorectal atresia or stenosis, respectively, followed by an OR of 5.9 (95% CI, 1.9-18.5) for renal agenesis. SUA was associated with an up to 7-8 times increased risk of congenital heart defects. There was an association with microcephaly, congenital hydrocephalus and other congenital malformations of the brain and spinal cord. Diaphragmatic hernia, limb reductions and cleft lip or palate had a weaker association with SUA, with ORs ranging from 4.8 to 2.8. The associations with trisomy 18 and 13 were equally strong (OR 14.4 (95% CI, 9.3-22.4) and OR 13.6 (95% CI, 6.7-27.8), respectively), and the risk of trisomy 21 was doubled (OR 2.1 (95% CI, 1.2-3.6)). Pregnancies with SUA, with or without an associated malformation, had a 2-fold increased risk for SUA in a subsequent pregnancy.
SUA is associated strongly with gastrointestinal atresia or stenosis, suggesting common developmental mechanisms. The increased risk of recurrence of SUA suggests that genetic and/or persisting environmental factors influence the risk. We found that SUA had equally strong associations with trisomies 13 and 18. © 2019 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of the International Society of Ultrasound in Obstetrics and Gynecology.
单脐动脉（SUA）与大多数器官系统的先天性畸形有关，但报告的结果并不一致。虽然有人提出遗传和持续存在的环境因素会影响 SUA 的发展，但尚不清楚同一女性的后续妊娠是否存在更高的复发风险。本研究的目的是调查挪威 SUA 的发生情况和危险因素，评估其与先天性畸形和 13 号、18 号和 21 号三体的关系，并研究 SUA 在后续妊娠中的复发风险。
这是一项基于人群的研究，纳入了 1999 年至 2014 年期间挪威医学出生登记处记录的>16 周妊娠的所有（n=918933）单胎妊娠。为了确定与 SUA 相关的危险因素和先天性畸形，使用广义估计方程和逻辑回归计算优势比（OR）及其 95%置信区间（CI）。还计算了 SUA 在后续妊娠中的复发风险。
我们人群中 SUA 的发生率为 0.46%（4241/918933）。多胎产次≥4、吸烟、孕妇孕前糖尿病、癫痫、慢性高血压、既往剖宫产和辅助生殖技术受孕增加了 SUA 的发生风险。SUA 与新生儿的胃肠道闭锁或狭窄有特别强的关联，食管和肛门闭锁或狭窄的 OR 分别为 25.8（95%CI，17.0-39.1）和 20.3（95%CI，13.4-30.9），随后肾发育不全的 OR 为 5.9（95%CI，1.9-18.5）。SUA 与先天性心脏病的风险增加了 7-8 倍相关。与微头畸形、先天性脑积水和其他脑脊髓先天性畸形也存在关联。膈疝、肢体缺失和唇裂或腭裂与 SUA 的关联较弱，OR 范围为 4.8 至 2.8。18 三体和 13 三体的相关性同样强烈（OR 14.4（95%CI，9.3-22.4）和 OR 13.6（95%CI，6.7-27.8）），21 三体的风险增加了一倍（OR 2.1（95%CI，1.2-3.6））。SUA 合并或不合并畸形的妊娠，SUA 在后续妊娠中的复发风险增加 2 倍。
SUA 与胃肠道闭锁或狭窄强烈相关，提示存在共同的发育机制。SUA 复发风险增加表明遗传和/或持续存在的环境因素影响风险。我们发现 SUA 与 13 号和 18 号三体的相关性同样强烈。© 2019 作者。超声在妇产科由约翰威立父子公司出版代表国际超声在妇产科协会。
