Forrester Mathias B, Merz Ruth D
Hawaii Birth Defects Program, Honolulu, Hawaii, USA.
Congenit Anom (Kyoto). 2008 Jun;48(2):87-91. doi: 10.1111/j.1741-4520.2008.00184.x.
There is limited information on the specific structural birth defects associated with the abdominal wall defects (AWD) omphalocele and gastroschisis, particularly which defects occur with the AWD at greater than expected rates (rates among all infants and fetuses with birth defects other than the AWD). Using data from a population-based birth defects registry in Hawaii, this study calculated the rates for 48 specific structural birth defects among the AWD and compared these rates to the expected rates. There were 60 cases of omphalocele, 96 cases of gastroschisis, and 12,161 infants and fetuses with structural birth defects excluding the AWD among deliveries during 1986-2001. For omphalocele, higher than expected rates were found for 23 (47.9%) of the defects. These involved defects of a variety of organ systems. For gastroschisis, higher than expected rates were found for 8 (16.7%) of the defects, mainly neural tube defects (NTD) and specific defects of the orofacial and gastrointestinal system and the genital and urinary system. Both omphalocele and gastroschisis had elevated rates for NTD, intestinal atresia/stenosis, malrotation of intestines, obstructive genitourinary defects and limb reduction deformities. Certain specific structural birth defects occurred more often than expected with the AWD. The associated birth defects tended to vary between omphalocele and gastroschisis, although there were a few similarities. Due to the small number of cases, further research involving larger amounts of data are warranted.
关于与腹壁缺陷(AWD)脐膨出和腹裂相关的特定结构出生缺陷的信息有限,特别是哪些缺陷在AWD中出现的发生率高于预期(在所有有出生缺陷但非AWD的婴儿和胎儿中的发生率)。利用夏威夷一个基于人群的出生缺陷登记处的数据,本研究计算了AWD中48种特定结构出生缺陷的发生率,并将这些发生率与预期发生率进行了比较。在1986 - 2001年期间的分娩中,有60例脐膨出、96例腹裂,以及12161例有结构出生缺陷但不包括AWD的婴儿和胎儿。对于脐膨出,在23种(47.9%)缺陷中发现发生率高于预期。这些涉及多种器官系统的缺陷。对于腹裂,在8种(16.7%)缺陷中发现发生率高于预期,主要是神经管缺陷(NTD)以及口面部和胃肠道系统以及生殖和泌尿系统的特定缺陷。脐膨出和腹裂的NTD、肠道闭锁/狭窄、肠旋转不良、梗阻性泌尿生殖系统缺陷和肢体减少畸形的发生率均有所升高。某些特定结构出生缺陷在AWD中出现的频率高于预期。尽管有一些相似之处,但相关的出生缺陷在脐膨出和腹裂之间往往有所不同。由于病例数量较少,有必要进行涉及更多数据的进一步研究。