Craver R D, Kalousek D K
Department of Pathology, Louisiana State University Medical School, New Orleans 70112.
Am J Med Genet Suppl. 1987;3:113-9. doi: 10.1002/ajmg.1320280513.
We have reviewed spontaneously aborted fetuses of 9 to 20 developmental weeks. All fetuses with either external or internal developmental defects and those with maternal history of repeated spontaneous abortion were studied cytogenetically. Among 723 fetuses the cytogenetically proven prevalence of chromosome abnormalities was 5.8%. Inclusion of suspected chromosome abnormality based on morphologic findings resulted in an overall prevalence of only 7.1%. This prevalence and restricted spectrum of chromosome abnormalities, which included monosomy X, triploidy, gonosomal aneuploidy, trisomies 13, 18, and 21, resembled the prevalence and spectrum found among perinatal deaths and differed both in prevalence and type from those chromosome abnormalities found in spontaneous abortions occurring during the embryonic period. Monosomy X was the most common chromosome abnormality among previable fetuses. Both monosomy X and triploidy were more frequently detected in the early fetal period than in perinatal deaths. The combined prevalence of autosomal trisomies was equal to that which has been reported in the perinatal deaths. Chromosomal structural abnormalities, seen in perinatal deaths, were not found in our study.
我们对9至20孕周的自然流产胎儿进行了回顾性研究。对所有存在外部或内部发育缺陷的胎儿以及有反复自然流产母体病史的胎儿进行了细胞遗传学研究。在723例胎儿中，经细胞遗传学证实的染色体异常患病率为5.8%。纳入基于形态学发现怀疑存在染色体异常的胎儿后，总体患病率仅为7.1%。这种染色体异常的患病率和受限谱，包括X单体、三倍体、性染色体非整倍体、13、18和21三体，与围产期死亡中发现的患病率和谱相似，在患病率和类型上均与胚胎期自然流产中发现的染色体异常不同。X单体是可存活胎儿中最常见的染色体异常。X单体和三倍体在孕早期比在围产期死亡中更常被检测到。常染色体三体的合并患病率与围产期死亡中报告的患病率相当。我们的研究中未发现围产期死亡中所见的染色体结构异常。
