Hamilton R A, Dornan J C
Royal Maternity Hospital, Belfast.
Ulster Med J. 1992 Oct;61(2):127-33.
Neural tube defects rank second to congenital heart disease as a major cause of congenital malformation. Recent developments in ultrasound have improved prenatal diagnosis. Due to anomaly scans at 18 weeks gestation and the availability of a genetic clinic, prenatal diagnosis of neural tube defects at the Royal Maternity Hospital was 91.2% during 1987-1989. However, only 50% of parents accept termination of pregnancy and it is questionable if prenatal diagnosis is of benefit to those who wish to continue with the pregnancy. Parents may accept the situation better at birth, having had time to come to terms with it, helped with support from the obstetrician, clinical geneticist, paediatrician, genetic nurse and social worker. For some affected fetuses who have better muscle function and leg movement at term it appears from the literature that the outcome may be improved by caesarean section delivery. In Ireland fetuses with neural tube defects will continue to be delivered, as termination is unacceptable to many, but despite this there may be a positive benefit from prenatal diagnosis of neural tube defects. Prospective randomised controlled trials are needed to confirm benefit from delivery by caesarean section for fetuses with a good prognosis. As a result of prenatal diagnosis of a neural tube lesion the fetus should enjoy benefit in terms of physical morbidity, and the parents should benefit in terms of psychological morbidity.
神经管缺陷是先天性畸形的主要原因之一，仅次于先天性心脏病。超声技术的最新进展改善了产前诊断。由于在妊娠18周时进行异常扫描以及设有遗传门诊，1987年至1989年期间，皇家妇产医院对神经管缺陷的产前诊断率为91.2%。然而，只有50%的父母接受终止妊娠，对于那些希望继续妊娠的人来说，产前诊断是否有益尚存在疑问。如果有产科医生、临床遗传学家、儿科医生、遗传护士和社会工作者的支持，父母在孩子出生时可能会更好地接受这种情况，因为他们有时间去适应。从文献来看，对于一些足月时肌肉功能和腿部活动较好的受影响胎儿，剖宫产分娩可能会改善其结局。在爱尔兰，神经管缺陷胎儿将继续分娩，因为许多人无法接受终止妊娠，但尽管如此，神经管缺陷的产前诊断可能仍有积极益处。需要进行前瞻性随机对照试验来证实剖宫产分娩对预后良好的胎儿有益。由于对神经管病变进行了产前诊断，胎儿在身体发病率方面应会受益，父母在心理发病率方面也应会受益。
