Bundey S, Alam H, Kaur A, Mir S, Lancashire R
Clinical Genetics Unit, University of Birmingham, England.
Paediatr Perinat Epidemiol. 1991 Jan;5(1):101-14. doi: 10.1111/j.1365-3016.1991.tb00689.x.
A prospective study of 4934 babies of different ethnic groups has confirmed the high perinatal mortality rate for Pakistanis and has shown that this was not due to a reluctance to terminate a fetus who is known to be seriously malformed. The major cause of early mortality was a high rate of lethal malformations, which occurred in about 1 in 100 Pakistani babies and which accounted for about half of their perinatal mortality. Many of these were autosomal recessive and occurred only in the offspring of consanguineous parents. However, there was also an excess of lethal cardiac malformations which were not associated with parental consanguinity. The remainder of the excess perinatal mortality was probably due to socio-economic factors. These causes are partly amenable to preventive measures, such as the referral of Pakistani women for expert ultrasonography at 18 to 20 weeks of pregnancy.
一项针对4934名不同种族婴儿的前瞻性研究证实，巴基斯坦人的围产期死亡率很高，且表明这并非由于不愿终止已知严重畸形的胎儿。早期死亡的主要原因是致死性畸形发生率很高，约每100名巴基斯坦婴儿中就有1例出现致死性畸形，这约占其围产期死亡人数的一半。其中许多是常染色体隐性遗传，仅发生在近亲结婚父母的后代中。然而，也有过多与父母近亲结婚无关的致死性心脏畸形。围产期死亡人数过多的其余部分可能归因于社会经济因素。这些原因部分可通过预防措施加以解决，比如在怀孕18至20周时将巴基斯坦妇女转诊至专家处进行超声检查。
