Agopian A, Marengo L, Mitchell L E
Institute of Biosciences and Technology, Texas A&M University System Health Science Center, Houston, Texas 77030, USA.
Am J Med Genet A. 2009 Oct;149A(10):2129-33. doi: 10.1002/ajmg.a.33000.
Omphalocele is a congenital malformation that involves protrusion of abdominal contents into the umbilicus. Though omphalocele may present as a manifestation of several chromosomal and Mendelian syndromes, the etiology for nonsyndromic omphalocele is unknown. The present study sought to estimate the birth prevalence of nonsyndromic omphalocele in offspring of women residing in Texas from 1999 to 2004, and to describe prevalence as a function of parental and infant demographic characteristics. Data on 325 cases with nonsyndromic omphalocele and 2,208,758 live births delivered during 1999-2004 were obtained from the Texas Birth Defects Registry. These data were used to estimate omphalocele birth prevalence and obtain both crude and adjusted prevalence ratios for the association of nonsyndromic omphalocele with parental and infant demographic characteristics. Nonsyndromic omphaloceles were significantly more common among the offspring of women without previous live births (adjusted prevalence ratio: 1.80, 95% CI: 1.41-2.30), compared to the offspring of women with previous live births. The prevalence of nonsyndromic omphalocele was also increased among women aged 25-29 (adjusted prevalence ratio: 1.68, 95% CI: 1.12-2.50) and women aged 40 and older (adjusted prevalence ratio: 4.83, 95% CI: 2.63-8.86) compared to the offspring of women age <20, and in infants of multiple gestation pregnancies compared to singleton infants (adjusted prevalence ratio: 2.03, 95% CI: 1.22-3.37). In addition, among Hispanic women, the prevalence of nonsyndromic omphalocele was higher in the offspring of those born in the U.S. as compared to those born elsewhere (adjusted prevalence ratio: 1.50, 95% CI: 1.12-2.00). These findings augment the existing omphalocele literature.
脐膨出是一种先天性畸形，表现为腹腔内容物突出至脐部。尽管脐膨出可能是几种染色体和孟德尔综合征的一种表现，但非综合征性脐膨出的病因尚不清楚。本研究旨在估计1999年至2004年居住在德克萨斯州的女性后代中非综合征性脐膨出的出生患病率，并将患病率描述为父母和婴儿人口统计学特征的函数。从德克萨斯州出生缺陷登记处获得了1999年至2004年期间325例非综合征性脐膨出病例和2,208,758例活产的数据。这些数据用于估计脐膨出的出生患病率，并获得非综合征性脐膨出与父母和婴儿人口统计学特征关联的粗患病率和调整患病率比值。与有过活产的女性后代相比，非综合征性脐膨出在没有过活产的女性后代中明显更常见（调整患病率比值：1.80，95%可信区间：1.41 - 2.30）。与年龄<20岁的女性后代相比，25 - 29岁的女性（调整患病率比值：1.68，95%可信区间：1.12 - 2.50）和40岁及以上的女性（调整患病率比值：4.83，95%可信区间：2.63 - 8.86）的非综合征性脐膨出患病率也有所增加，并且与单胎婴儿相比，多胎妊娠婴儿的非综合征性脐膨出患病率更高（调整患病率比值：2.03，95%可信区间：1.22 - 3.37）。此外，在西班牙裔女性中，在美国出生的女性后代中非综合征性脐膨出的患病率高于在其他地方出生的女性后代（调整患病率比值：1.50，95%可信区间：1.12 - 2.00）。这些发现丰富了现有的脐膨出文献。
