Malova J, Bohmer D, Luha J, Pastorakova A, Cierna Z, Braxatorisova T
Bratisl Lek Listy. 2018;119(6):330-334. doi: 10.4149/BLL_2018_062.
The purpose of this study was to monitor the association between single umbilical artery (SUA), chromosomal abnormalities and associated anomalies during the routine examination of spontaneous or induced miscarriages and premature births.
During 1992-2015 we morphologically and cytogenetically examined a series of 4098 samples. For 1330 cases the number of umbilical cord vessels could be reported.
The presence of single umbilical artery was identified in 67 fetuses of 1330 pregnancies (5.04 %); 36 of the 67 fetuses (53.7 %) had additional congenital malformations. The cultures were unsuccessful in 29 of 67 cases (43.3 %). 38 cases (56.7 %) were successfully karyotyped; 20 out of them had a normal karyotype and 18 had chromosomal anomalies including trisomy 18 (n = 4), trisomy 13 (n = 3), trisomy 21 (n = 2), trisomy 11 (n = 1), triploidy (n = 3), monosomy X (n = 3) and structural chromosomal aberrations (n = 2).
Isolated SUA is not at increased risk of chromosomal abnormalities and generally does not endanger pregnancy. All chromosomally abnormal embryos and fetuses had associated congenital anomalies. The most frequently associated congenital anomalies were in the musculoskeletal system, central nervous system and genitourinary tract (Tab. 4, Ref. 44).
本研究的目的是在自然流产或人工流产及早产的常规检查过程中，监测单脐动脉（SUA）、染色体异常及相关畸形之间的关联。
在1992年至2015年期间，我们对一系列4098份样本进行了形态学和细胞遗传学检查。对于1330例病例，可以报告脐带血管的数量。
在1330例妊娠中的67例胎儿（5.04%）中发现了单脐动脉；67例胎儿中有36例（53.7%）还伴有其他先天性畸形。67例中有29例（43.3%）培养失败。38例（56.7%）成功进行了核型分析；其中20例核型正常，18例有染色体异常，包括18三体（n = 4）、13三体（n = 3）、21三体（n = 2）、11三体（n = 1）、三倍体（n = 3）、X单体（n = 3）和染色体结构畸变（n = 2）。
孤立性SUA发生染色体异常的风险并未增加，一般不会危及妊娠。所有染色体异常的胚胎和胎儿均伴有先天性畸形。最常伴发的先天性畸形发生在肌肉骨骼系统、中枢神经系统和泌尿生殖道（表4，参考文献44）。
