Cytogenetic analysis of 1000 spontaneous abortions showed 463 to have an abnormal chromosome constitution. The proportion of chromosome abnormalities varied with the gestational age of the abortus and the type of tissue cultured but was not significantly different among the five racial groups represented in the study population. It was suggested that differences in the rate of chromosome abnormalities among cytogenetic studies of spontaneous abortions were the result of methodological differences in sample selection rather than real biological variation among study populations. The only factor found to be unequivocally associated with the aetiology of chromosome abnormalities in spontaneous abortions was increasing maternal age in trisomies.

A cytogenetic study of 1000 spontaneous abortions

Data on sex differences in mortality, morbidity, growth under conditions of environmental stress, and growth responses to environmental improvement are reviewed to test the hypothesis that males are less buffered than females against the environment during growth and development. The hypothesis predicts that males should be more affected by environmental stress, and the strongest support for this is found in studies of the prenatal period. Under stressful conditions, males have higher late fetal mortality than females, and their fetal growth generally has been found to be more retarded. Investigations of postnatal responses to environmental stress have yielded much less consistent results, in large part because of the fact that male children are given preferential treatment in many societies.



Results of studies of differences between the sexes in their response to environmental improvement are contradictory. During the prenatal peroid males seem to show a greater response to nutritional supplementation, while postnatal catch-up growth is usually greater in females. Similarly, some investigations report larger secular trends in males, while others have found larger increases in females. These contradictory findings can be reconciled with the hypothesis of greater male environmental sensitivity, but they illustrate the need to obtain more specific information on the environment to which males and females are subject before the hypothesis can be tested adequately.

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajpa.1330280507

Sex differences in environmental sensitivity during growth and development

The effect of maternal age on the incidence of chromosomally normal spontaneous abortion and different categories of chromosome abnormality among all clinically recognized human pregnancies was evaluated. The results provide no evidence for a significant association of age with sex chromosome monosomy or polyploidy, but clearly demonstrate an effect of age on the frequency of trisomy and chromosomally normal spontaneous abortions. Estimated maternal age-specific rates of trisomy among all recognized pregnancies were calculated and suggest that a majority of oocytes of women aged 40 years and older may be aneuploid.

Maternal age-specific rates of numerical chromosome abnormalities with special reference to trisomy.

Altogether, 750 cases of spontaneous abortion between the fifth and 25th week of gestation were analyzed cytogenetically by the direct-preparation method using chorionic villi. The majority of cases (68%) were derived from early abortions before the 12th week of gestation. The frequency of abnormal karyotypes was 50.1%; trisomy was predominant (62.1%), followed by triploidy (12.4%), monosomy X (10.5%), tetraploidy (9.2%), and structural chromosome anomalies (4.7%). Among trisomies, chromosomes 16 (21.8%), 22 (17.9%), and 21 (10.0%) were prevalent. The frequency of chromosomally abnormal abortions increased with maternal age but only because of an increase of trisomy. Polyploidy and monosomy X, however, decreased. Mean maternal age was significantly increased for trisomies 16, 21, and 22 and was highest for trisomies 18 and 20. The results obtained are within the range of variability reported earlier from tissue culture-type studies. A consistent feature during our study is the excess of females in chromosomally normal abortions (male:female sex ratio 0.71). According to the methodology applied, maternal cell contamination and undetected 46,XX molar samples cannot have influenced the sex ratio. However, a bias introduced by social status or maternal age cannot be excluded. With the more rapid and convenient direct preparation of chorionic villi, reliable cytogenetic data on causes of spontaneous abortions can be obtained.

Cytogenetic analysis of 750 spontaneous abortions with the direct-preparation method of chorionic villi and its implications for studying genetic causes of pregnancy wastage

Incidence and spectrum of chromosome abnormalities in spontaneous abortions: new insights from a 12-year study.

A total of 639 spontaneous abortuses collected in a maternity hospital were set up in culture This sample included 565 unselected consecutive abortuses and 74 selected abortuses ascertained by morphology and/or clinical history Among these, 339 were incomplete specimens with no recovered embryo or fetus, 110 were anatomically apparently normal and 190 were grossly abnormal In the unselected series, 565 specimens were cultured and 402 were karyotyped; 215 (535%) were chromosomally abnormal In the selected series, 74 specimens were set up in culture and 45 were karyotyped; 26 (577%) had an abnormal karyotype In all, successful karyotyping was done on 447 abortuses (70%), of which 339 were studied with banding One or more major chromosome abnormalities were detected in 241 (54%) of the karyotyped cases, 230 of which were numerical anomalies and 11 structural anomalies Numerical anomalies included primary autosomal trisomies (31% of the total karyotyped), 45,X (10%), triploidy (65%), and tetraploidy (18%) Of the 22 types of autosomal trisomies possible, all except those for 1, 5, 17, and 19 were identified An abortus with a 49,XX,+2,+5,+8 karyotype was detected The excess autosomal material present in the triple trisomic abortus corresponded to 10% of the haploid autosomal complement Of the 11 abortuses with structural abnormalities, seven were inherited while the other four were sporadic The survival rate of 45,X conceptuses was estimated to be one in 300

Anatomic and chromosomal anomalies in 639 spontaneous abortuses

Cytogenetics of aborters and abortuses

Chromosome analysis of the amnion from a spontaneous abortus revealed a 47,XX,D+karyotype. Giemsa banding pattern technique identified the extra chromosome as a No. 14.

Trisomy 14 in spontaneous abortus.

Trisomy in abortion material

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Anatomic and chromosomal anomalies in 639 spontaneous abortuses

Cytogenetics of aborters and abortuses

Trisomy 14 in spontaneous abortus.

Trisomy in abortion material