Young I D, Clarke M
Br Med J (Clin Res Ed). 1987 Jul 11;295(6590):89-91. doi: 10.1136/bmj.295.6590.89.
During 1976 to 1985 perinatal mortality in Leicestershire decreased from 21 to 9.5 per 1000 births. Throughout this period the incidence of lethal malformations, excluding neural tube defects, remained relatively constant at around 1.8 per 1000 births. Analysis of the malformations present in 201 lethally malformed babies showed that 147 (73%) had a disorder carrying a recurrence risk of 1% or greater. Only 7% of these malformations might have been predicted from the family history or advanced maternal age. The incidence of lethal malformations was significantly increased in the Asian population, largely because of an excess of autosomal recessive disorders. The contribution of lethal malformations to perinatal mortality has almost doubled over the past 10 years and is likely to increase despite prenatal diagnosis and improvements in obstetric and paediatric services.
1976年至1985年间,莱斯特郡的围产期死亡率从每1000例出生21例降至9.5例。在此期间,除神经管缺陷外,致死性畸形的发生率相对稳定,约为每1000例出生1.8例。对201例致死性畸形婴儿的畸形情况分析显示,147例(73%)患有复发风险为1%或更高的疾病。这些畸形中只有7%可根据家族史或产妇高龄预测。亚洲人群中致死性畸形的发生率显著增加,主要是因为常染色体隐性疾病过多。在过去10年中,致死性畸形对围产期死亡率的影响几乎翻了一番,尽管有产前诊断以及产科和儿科服务的改善,但仍可能增加。