Morphology of early fetal deaths and their chromosomal characteristics

The morphologic features of a consecutive series of 3,472 singleton spontaneous abortions are described. Of the total, 21% consisted of well-formed fetuses (over 30 mm long), 27.9% had no identifiable fetal tissues, 34.2% consisted of fetal membranes only, and the remainder, 16.8%, consisted of a variety of embryonic types. The rate of focal malformations among embryos over 10 mm in length and among fetuses was 16.4%. The overall rate of chromosome anomalies in the 1,356 karyotyped specimens was 39.8%. The vast majority, 94%, occurred in embryos less than 30 mm, and in specimens whose development had not proceeded beyond differentiation of fetal membranes. The rate of chromosome anomalies among nonmalformed fetuses (greater than 30 mm) was only 1.7%. However, the presence of limited embryonic development was not a good predictor of the presence of a chromosome anomaly. Slightly over half (56%) of all specimens less than 30 mm long had chromosome anomalies; for individual classes of such specimens the rate ranged from 45% to 81%. The morphologic category with the highest rate of karyotypic anomalies had an excess of monosomy X abortuses. A gradient of developmental level could be associated with the degree of intrauterine mortality of each chromosome anomaly; i.e., conceptuses with karyotypes that occur at term had a greater degree of embryonic development than karyotypes that are never seen among term births. Thus, trisomies 13, 18, and 21 were more often associated with fetuses, and less often with tissue fragments than other trisomies. Focal malformations were multiple and severe in abortuses with triploidy, trisomies 13 and 18, and monosomy X and mild in trisomy 21. With the exception of monosomy X the malformations were similar to, and not more severe than those reported from, term births with the same anomaly. The high rate of intrauterine mortality in conceptuses with chromosome anomalies could be ascribed to their failure to develop past the embryonic stages. However, the presence of an equally large fraction of chromosomally normal abortions with the same degree of rudimentary development suggests the existence of early and profound developmental problems that are not associated with anomalies of the chromosome complement.