Does 45,X/46,XX mosaicism with 6-28% of aneuploidy affect the outcomes of IVF or ICSI?

CHU Brest, Service de Gynécologie Obstétrique et Médecine de Reproduction, Brest, France.
European journal of obstetrics, gynecology, and reproductive biology (Impact Factor: 1.7). 04/2012; 163(1):47-51. DOI: 10.1016/j.ejogrb.2012.03.029
Source: PubMed


Several studies have shown an increased frequency of chromosomal aberrations in female partners of couples examined prior to intracytoplasmic sperm injection (ICSI). A retrospective cohort study was performed to determine whether 45,X/46,XX mosaicism affects the outcomes of in vitro fertilization (IVF) or ICSI.
Forty-six women with a 45,X/46,XX karyotype with 6-28% of aneuploidy were compared with 59 control women (46,XX), matched for age, from the female population who underwent IVF or ICSI between 1 January 1996 and 31 December 2006 at the Reproductive Medicine Unit at Brest University Hospital. The outcomes of 254 treatment cycles were compared according to patient karyotype.
No difference was found in the number of retrieved oocytes (8.9 ± 5.5 vs 8.5 ± 4.7; p=0.56) or the number of mature oocytes (7.4 ± 4.7 vs 6.9 ± 4.2; p=0.49) between the 45,X/46,XX group and the 46,XX group, respectively. Fertilization rates did not differ between the groups for either IVF or ICSI. In addition, no difference was found in the pregnancy rate by cycle (17.4% vs 18.7%, respectively; p=0.87). The percentage of first-trimester miscarriages was similar in both groups (13.6% vs 12.5%, respectively; p=0.51).
45,X/46,XX mosaicism with 6-28% of aneuploidy has no adverse effect on the outcomes of IVF or ICSI among women referred to assisted reproductive technologies.

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Available from: Lionel Homer, Feb 28, 2014
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    • "Fewer than 15 % of TS patients appear to have mosaicism with a 46,XY cell population or a Y chromosome rearrangement, 30–50 % are mosaic with a second X or a structurally abnormal X [5], while X/XX and X/XY individuals make up 15.5 % and 9.0 %, respectively, of TS patients [6]. Homer et al. [7] reported the frequency of 45,X/46,XX mosaicism to be 9.6 %, compared with an estimated 3.5 % of 45,X/46,XX in the overall female population by Peschka et al. [8]. "
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    ABSTRACT: Purpose To explore the prevalence and clinical features, especially the reproductive function, of 45,X mosaicism patients in northeast China. Methods GTG-banding was performed on a series of 2,250 patients from our genetic counseling clinic. Each of these patients underwent a physical examination and was interviewed about their medical history and reproductive problems. Literature on 45,X mosaicism was accessed using PubMed and reviewed. Results The prevalence of 45,X mosaicism in northeast China is 0.36 % (8/2250), and the mosaic karyotype of our study accounted for 61.54 % (8/13) of Turner syndrome cases. This is comparable with studies from Asia, Europe, South America and other regions. The affected patients showed genital abnormalities, abnormal pregnancy or infertility. Conclusion 45,X mosaicism is commonly seen in the genetic counseling clinic. Extensive cytogenetic assessment may improve the detection rate in patients with congenital dysplasia, or history of abnormal pregnancy or infertility. Karyotyping plays a key role in prognosis and assisted reproduction or early surgical treatment.
    Preview · Article · Jan 2013 · Journal of Assisted Reproduction and Genetics
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    ABSTRACT: Turner's syndrome (TS) is depicted as a total or partial absence of one X chromosome that results in ovarian dysgenesis. Chances of spontaneous pregnancy in TS are rare and the outcome of the pregnancies is known to be poor with an increased risk of miscarriage and stillbirths. Our aim is to evaluate reproductive and obstetric outcomes of natural conception and in-vitro fertilization (IVF) cycles in mosaic TS patients. A total of 22 mosaic TS cases (seventeen 45,X/46,XX and five 45,X/46,XX/47,XXX karyotypes) were evaluated. Live birth and abortion rates were found as 32.7 % and 67.3 %, respectively in 52 pregnancies. Implantation, clinical pregnancy and take home baby rates were detected as 3.7 %, 8.6 % and 5.7 %, respectively per IVF cycle as a result of 35 cycles. Fecundability analysis revealed that 5 % of the cases experienced first pregnancy within 6 months and 8 % within the first 2 years. Mosaicism ratio did not have an effect on the time to the first pregnancy (p = .149). Only a small proportion of the mosaic TS patients conceive in the first 2 years of the marriage. Age of menarche and age of marriage appear not to have any impact on the chance of conceiving. Mosaic TS cases should counseled about the low odds of pregnancy and high miscarriage rates.
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    ABSTRACT: The results of cytogenetic studies of 3414 patients with infertility (1741 women and 1673 men) were analyzed retrospectively to estimate the frequency and types of chromosomal abnormalities in infertile patients. Chromosomal abnormalities were detected in 2.37% of cases (81/3414), corresponding to an abnormality frequency of 2.79% among men and 1.95% among women. Balanced structural chromosomal rear-rangements were predominant in the studied group, constituting 80.2% of all chromosomal abnormalities. Gonosomal abnormalities comprised 23.5% of the detected chromosomal pathology (19/81) and were presented by gonosomal aneuploidies in 84% of cases (16/19) and structural rearrangements of chromosome Y in 16% of cases (3/19). The frequency of sex chromosome low level mosaicism was 0.55%. Our results highlight the importance of cytogenetic studies in patients with infertility before the start of infertility treatment programs with assisted reproduction techniques, since the detection of chromosomal abnormalities makes it possible to identify infertility etiology as well as change the treatment approaches.
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