Characteristics of chromosomal abnormalities diagnosed after spontaneous abortions in an infertile population

Abstract

Purpose To estimate the prevalence of chromosomally abnormal related miscarriages in an infertile population. Methods Retrospective analysis of cytogenetics obtained by chorionic villi harvesting of the first miscarriage cycle of infertile patients at our center from 2001-2010 were reviewed. Abnormal results were characterized as trisomy, monosomy X, structural, or other. Age, # of eggs, #2PN, # embryos transferred, day of transfer, and performance of intracytoplasmic sperm injection (ICSI) were recorded. Results In a study population of 299 patients with a mean age of 38.0±4.5 y, 276(92 %) patients had some form of assisted reproductive technologies (ART), and 244(82 %) had IVF. Of all results, 71.6 % had an abnormal karyotype. Patients with abnormal cytogenetics were older (38.6±4.1 vs. 36.3± 4.9, p<0.001), and more likely to have a day 3 transfer (age <38(20.7 %) vs. age 38 (46.3 %), p0<0.001) with more embryos transferred (3.0±1.2, vs. 2.3±0.9, p<0.001). The performance of ICSI did not affect the rate of cytogenetically abnormal products of conception (ICSI 68.3 % vs. no ICSI 70.7 %). In comparing patients, monosomy X was more common in <38 y. Rates of trisomy, although not statistically significant, were higher in older patients. Conclusions The classic associations between advancing age and chromosomal abnormalities, and younger age and monosomy X, are affirmed in our infertile population. There was no increase in chromosomal abnormalities in cycles where ICSI was performed. Older patients are more likely to have day 3 transfers and more embryos transferred. Our chromosomal abnormality rates are higher than classic estimates but comparable to recent studies. The limitation of this study was a lack in uniformity among practitioners in recommending all patients have a Dilation and Curettage (D&C) at time of diagnosis. Such information may serve to improve the counseling of patients after miscarriage.

In vitro fertilization with preimplantation genetic screening improves implantation and live birth in women age 40 through 43

“…Since the incidence of aneuploidy for products of conception is high, 50-80 % [4][5][6][7] it is expected that a reduction of aneuploid embryos might lead to a decreased incidence of pregnancy loss and an increased incidence of LDPS (Fig. 2).…”

“…For women over the age of 40 in the United States, roughly half of all clinical pregnancies established through IVF are lost, failing to result in live births (SART CORS Clinic Summary Report, 2012). It has been reported that approximately 50-80 % of all first trimester pregnancy losses result from chromosomal abnormalities in the developing fetus [4][5][6][7]. These abnormalities are a concern for couples seeking IVF treatment to conceive a healthy viable pregnancy.…”

Explaining the futility of the reproductive process in humans: past, present, and future

“…Central to the significance of this work was the fact that culturing products of conception (POC) and the methods used to perform cytogenetic testing were maintained throughout the five series of materials analyzed covering a time period of some 40 years and including a total of 8319 SABs. Excepting for the apparent increased incidence of trisomies over time, revealed to be due to increased maternal age in the later study groups, this body of work reaffirmed in the author's own words Bthat the primary determinants of chromosome abnormality are hard-wired into our species.Î nterestingly, the patterns of specific chromosomes implicated in SABs are not unlike that observed in trophectoderm biopsies of ART produced blastocysts [4] and are comparable to what is found in SABs of an infertile population of women [5]. Collectively, then, it seems that our genetics are at play in the everyday world of pregnancy failure, independent of whether conceptions are a byproduct of natural mating, or ART mediation for the subfertile-waiting-to-be-infertile seeking medical intervention.…”

Pregravid preparation for women with a history of miscarriage

“…Нарушение деления и повреждение хромосом происходит на этапах оогенеза, сперматогене-за и/или эмбриогенеза и приводит к анэуплоидии у плода. Наиболее распространены среди них трисомии (синдром Дауна, синдром Патау, синдром Эдвартса) и моносомии (синдром Шерешевского -Тернера) [15][16][17].…”