围产期死亡率中的染色体变异：500例病例的调查
Chromosome variation in perinatal mortality: a survey of 500 cases.
作者信息
Angell R R, Sandison A, Bain A D
出版信息
J Med Genet. 1984 Feb;21(1):39-44. doi: 10.1136/jmg.21.1.39.
Abstract
The results of chromosome analyses on 500 cases of perinatal deaths are reported. It was found that 4.8% were chromosomally abnormal, but 90% of the chromosomally abnormal were either clinically malformed or macerated fetuses. Of the macerated fetuses, 9% were chromosomally abnormal and of these 33% had trisomy 21. The data suggest that the high loss of trisomy 21 fetuses in later stages of pregnancy is of an order sufficient to explain the discrepancy between the higher numbers of trisomy 21 detected during amniotic fluid sampling than found at birth in women of 35 years and over.
摘要
报告了对500例围产期死亡病例进行染色体分析的结果。发现4.8%的病例存在染色体异常，但90%染色体异常的病例为临床畸形或浸软胎儿。在浸软胎儿中，9%存在染色体异常，其中33%患有21三体综合征。数据表明，妊娠后期21三体胎儿的高损失量足以解释35岁及以上女性羊水采样时检测到的21三体数量高于出生时的差异。
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