Retrospective and Prospective Epidemiological Studies of 1500 Karyotyped Spontaneous Human Abortions

Abstract

Epidemiologic studies, retrospective and prospective, were done on 1500 abortions collected from 19661972. No secular or seasonal variations were observed. From the analysis of the relative frequencies of the different types of chromosome anomalies it is estimated that 1 out of every 2 conceptions has a chromosome anomaly. Maternal-age influence was found only for the autosomal trisomy group, mainly D and G trisomies. No effect of oral contraceptives was discovered. An increased frequency of chromosome anomalies occurred after ovulation-inducing therapy and after occupational exposure of the father to irradiation. No variations in the fertility rate and in the frequency of congenital malformations in births following abortions was noted. The incidence of recurring abortion was mainly influenced by the reproductive history of the couple before the karyotyped abortion. Retrospective studyAt the time of the abortion (before the karyotype of the abortus was known) a questionnaire was completed by the parents. This questionnaire contains numerous questions concerning the medical histories of each parent, the gynecologic and obstetric history of the mother, and if feasible the circumstances surrounding conception (temperature curves, date of ovulation, dates of intercourse). Prospective studyTwo prospective studies were carried out: one in May 1971, the results of which have been published (Boue et al., '73), and a second in October 1972, in which a

Maternal antimullerian hormone levels do not predict fetal aneuploidy

“…If such an association were true, then diminished ovarian reserve could impact a woman's risk for fetal aneuploidy. Maternal nondisjunction during oogenesis leads to chromosomal abnormalities in the conceptus and is a significant cause of embryonic and fetal loss [12,13]. The frequency of these oocyte-related chromosomal abnormalities increases with advancing maternal age [14][15][16][17][18][19].…”

Interagency Regulatory Liaison Group Workshop on Reproductive Toxicity Risk Assessment

“…Approximately 50% of aborted fetuses are karyotypically abnormal (116). In addition, Hook (117) has suggested that changes in the relative frequencies of aneuploidy and structural rearrangements may relate to the action of environmental factors.…”

Gestational prognostic factors in women with recurrent spontaneous abortion

“…1 Recurrent spontaneous abortion (RSA) is defi ned as three or more consecutive spontaneous pregnancy losses before the 20 th week of gestation, a situation that occurs in 1 to 2% of women of reproductive age. 2,3 Chromosomal abnormalities are mentioned as responsible for 50 to 60% of spontaneous abortions in the fi rst trimester, 4 including numerical aberrations, translocations and mosaicism. 5 Qualitative semen evaluation is currently suggested for investigations of the causes of RSA.…”