Fetal malformations and abnormalities.
Fetal malformations and abnormalities.
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胎儿畸形和异常。
DOI：
10.1016/s0140-6736(74)91142-8
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发表时间：
1974
期刊：
影响因子：
168.9
通讯作者：
K. Laurence
中科院分区：
文献类型：
--
作者：
K. Laurence
长期以来，预防胎儿畸形和异常一直是产科医生、儿科医生和遗传学家的希望，但由于大多数人类畸形以及自发基因和染色体突变的原因尚不清楚，这在目前仍是一个梦想。然而，随着中期妊娠子宫穿刺术的引入，现在有可能及早发现某些异常，以便对异常胎儿进行选择性流产，尽管这应该被认为只是一种暂时的权宜之计。适用于这种方法的异常是染色体畸变如唐氏综合征，神经管畸形包括囊性脊柱裂，以及一些遗传性和X连锁代谢紊乱。
THE prevention of fetal malformations and abnormalities has long been the hope of obstetricians, paediatricians, and geneticists, but since the cause of most human malformations and of spontaneous gene and chromosome mutations is unknown, this must remain a dream for the present. However, with the introduction of mid-trimester amniocentesis it is now possible to detect some abnormalities early enough for selective abortion of abnormal fetuses, though this should be considered a temporary expedient only. The abnormalities which are amenable to this approach are the chromosome aberrations such as Down’s syn-drome, the neural-tube malformations including spina bifida cystica, and some recessively inherited and X-linked metabolic disorders.