Prucka Sandra, Clemens Michele, Craven Catherine, McPherson Elizabeth
Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, Pennsylvania, USA.
Genet Med. 2004 Jan-Feb;6(1):54-7. doi: 10.1097/01.gim.0000105743.91723.b0.
To ascertain the frequency of chromosomal and other anomalies in fetuses with single umbilical artery.
Placentas with single umbilical artery were identified from hospital pathology laboratory records. For each identified case, the next consecutive placenta with two umbilical arteries served as a control. Pathology records, maternal histories, and prenatal ultrasounds when available were reviewed for congenital anomalies, pregnancy complications, and maternal characteristics. When indicated, placental specimens, amniocytes, or neonatal bloods were karyotyped.
Single umbilical artery existed in 2.0% (97/4846) of pathological specimens. Fetuses with single umbilical artery had significantly more chromosomal (10.3% vs. 1.0%) and other congenital anomalies (27% vs. 8%).
The high incidence of major chromosomal and congenital anomalies justifies detailed fetal ultrasonography, echocardiography, and amniocentesis for karyotype when single umbilical artery is discovered during routine ultrasound.
确定单脐动脉胎儿中染色体及其他异常的发生率。
从医院病理实验室记录中识别出具有单脐动脉的胎盘。对于每一例识别出的病例，选取下一个连续的具有两条脐动脉的胎盘作为对照。回顾病理记录、母亲病史以及可获得的产前超声检查结果，以查找先天性异常、妊娠并发症和母亲特征。必要时，对胎盘标本、羊水细胞或新生儿血液进行核型分析。
病理标本中，单脐动脉的发生率为2.0%（97/4846）。单脐动脉胎儿的染色体异常（10.3% 对1.0%）和其他先天性异常（27% 对8%）明显更多。
主要染色体和先天性异常的高发生率表明，在常规超声检查中发现单脐动脉时，进行详细的胎儿超声检查、超声心动图检查以及羊水穿刺术进行核型分析是合理的。
