Simpson J L, Mills J, Rhoads G G, Cunningham G C, Conley M R, Hoffman H J
Department of Obstetrics Gynecology, University of Tennessee, Memphis.
Ann Genet. 1991;34(3-4):279-86.
In 1985-1987, the authors attempted to ascertain all cases of confirmed neural tube defects (NTD) in California and Illinois, not only among live-born infants (postnatal) but also cases ascertained during pregnancy (prenatal). Mothers of both prenatal and postnatal NTD cases were interviewed within 5 months. Among postnatal NTD cases, 14.9% (45/303) had anomalies not ordinarily associated with NTD. The frequency of non-NTD related anomalies was 9.4% (5/53) in anencephaly, 0/3 in craniorachischisis, 22.9% (8/35) in encephalocele, 14.5% (27/186) in spina bifida, 20% (1/5) in multiple NTD cases and 19% (4/21) in other NTDs. However, relatively few postnatal NTD cases had known multiple malformation patterns; Meckel-Gruber syndrome was the most common, with 2 postnatal cases, and 3 additional prenatal cases. Maternal age, paternal age and birth order in postnatal cases were 26.7 +/- 5.4 SD, 28.9 +/- 5.8 and 2.8 +/- 1.8, respectively. These characteristics were similar in prenatal NTD cases (27.9 +/- 6.0, 30.1 +/- 6.3, 2.5 +/- 1.5, respectively). We also found no differences in parental ages among different types of NTD. Frequency of prior spontaneous abortion differed neither between postnatal NTD (9.3%) and postnatal controls (8.1%), nor between prenatal NTD (10.7%) and prenatal control (8.7%). Loss rates in the pregnancy immediately prior to the index NTD cases were not significantly higher than in control subjects. The high frequency of non-NTD associated malformations (14.9%) indicates the caution must be exercised before assuming that a given NTD case is polygenic-multifactorial in etiology, especially cases of encephalocele.
1985年至1987年期间，作者试图确定加利福尼亚州和伊利诺伊州所有确诊的神经管缺陷（NTD）病例，不仅包括活产婴儿（产后）的病例，还包括孕期确诊的病例（产前）。产前和产后NTD病例的母亲均在5个月内接受了访谈。在产后NTD病例中，14.9%（45/303）伴有通常与NTD无关的异常。无脑儿中与非NTD相关异常的发生率为9.4%（5/53），颅脊柱裂中为0/3，脑膨出中为22.9%（8/35），脊柱裂中为14.5%（27/186），多发性NTD病例中为20%（1/5），其他NTD中为19%（4/21）。然而，产后NTD病例中已知有多种畸形模式的相对较少；梅克尔-格鲁伯综合征最为常见，有2例产后病例和3例产前病例。产后病例的母亲年龄、父亲年龄和出生顺序分别为26.7±5.4标准差、28.9±5.8和2.8±1.8。产前NTD病例的这些特征与之相似（分别为27.9±6.0、30.1±6.3、2.5±1.5）。我们还发现不同类型的NTD在父母年龄方面没有差异。既往自然流产的发生率在产后NTD（9.3%）和产后对照（8.1%）之间、产前NTD（10.7%）和产前对照（8.7%）之间均无差异。在索引NTD病例之前的那次妊娠中的流产率并不显著高于对照对象。非NTD相关畸形的高发生率（14.9%）表明，在假设某一特定NTD病例在病因上是多基因-多因素的之前必须谨慎，尤其是脑膨出病例。
