Kälién B, Robert E, Harris J
Tornblad Institute, University of Lund, Sweden.
Teratology. 1998 Feb;57(2):56-63. doi: 10.1002/(SICI)1096-9926(199802)57:2<56::AID-TERA3>3.0.CO;2-4.
The paper describes associated malformations in infants born with neural tube defects (N = 3,809) from three large malformation registers and in fetuses aborted because of a diagnosed neural tube defect (N = 748) from two of the registers. In infants, upper spina bifida and encephalocele are more often associated with non-neural malformations than anencephaly or lower spina bifida. Aborted fetuses with spina bifida or encephalocele have associated malformations registered more often than infants with those neural tube defects, but the opposite is true for anencephaly. The degree of detail of the investigation of an aborted specimen or a perinatally dead infant will contribute to such differences but they can also depend on the fact that prenatal detection may be facilitated by the simultaneous presence of other malformations like body wall defects. Also, fetuses with many malformations may be more prone to abort spontaneously late in pregnancy. Variable prenatal diagnosis may, therefore, explain population differences in the pattern of associated malformations. The type of associated malformation differs with the level of the neural tube defect: this could be due to different causal mechanisms or be a question of cranio-caudal level and/or timing. For limb reduction defects, however, we did not find any association between upper limb and upper neural tube defects or lower limb and lower neural tube defects. These findings together with other epidemiological data support the idea that upper and lower neural tube defects may have different significance in epidemiological studies and should be treated separately.
该论文描述了来自三个大型畸形登记处的患有神经管缺陷的婴儿（N = 3809）以及来自其中两个登记处的因诊断出神经管缺陷而流产的胎儿（N = 748）的相关畸形情况。在婴儿中，与无脑儿或低位脊柱裂相比，高位脊柱裂和脑膨出更常与非神经畸形相关。患有脊柱裂或脑膨出的流产胎儿比患有这些神经管缺陷的婴儿更常登记有相关畸形，但无脑儿的情况则相反。对流产标本或围产期死亡婴儿的调查详细程度会导致这种差异，但它们也可能取决于这样一个事实，即其他畸形如体壁缺陷的同时存在可能有助于产前检测。此外，患有多种畸形的胎儿在妊娠晚期可能更易自发流产。因此，可变的产前诊断可能解释了相关畸形模式中的人群差异。相关畸形的类型因神经管缺陷的水平而异：这可能是由于不同的因果机制，或者是颅尾水平和/或时间的问题。然而，对于肢体短小缺陷，我们未发现上肢与上位神经管缺陷或下肢与下位神经管缺陷之间存在任何关联。这些发现与其他流行病学数据共同支持了这样一种观点，即上位和下位神经管缺陷在流行病学研究中可能具有不同的意义，应分别进行处理。
