Sex chromosome mosaicism in couples undergoing intracytoplasmic sperm injection

Morel, Frédéric; Gallon, F.; Amice, V.; Bris, M.-J. Le; Martelot, M.T. Le; Roche, Sylvie; Valéri, Antoine; Derrien, V.; Herry, Angèle; Amice, J.; Braekeleer, Marc De

doi:10.1093/humrep/17.10.2552

Cited by 22 publications

(26 citation statements)

References 25 publications

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“…The analyses of the couples undergoing ICSI strongly support this suggestion. The increased rate of low-level sex chromosome mosaicism was also observed in females with repeated abortions of naturally conceived pregnancies [24][25][26]. A recent study showed that low-level sex chromosome mosaicism in females had no major effect on the course and outcome of ICSI [27].…”

Section: Discussionmentioning

confidence: 96%

The Results of Cytogenetic Analysis with Regard to Intracytoplasmic Sperm Injection in Males, Females and Fetuses

Başaran

Engür²,

Aytan³

et al. 2004

Fetal Diagn Ther

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Objectives: To determine the incidence of chromosome abnormalities among couples for whom intracytoplasmic sperm injection (ICSI) treatment was indicated and fetuses conceived through the ICSI procedure. Methods: All cytogenetic results were evaluated retrospectively. Patients undergoing ICSI (n = 508) were classified according to the referring indications as: (1) males with severe infertility (87 azoospermia and 34 oligoasthenoteratozoospermia, OAT), (2) prior to ICSI (56 males and 61 females), and (3) following an unsuccessful ICSI procedure (132 males and 138 females). Fetuses conceived through ICSI (n = 475) were also classified into 4 groups according to the additional risk factors for chromosome abnormalities: ICSI (n = 185), ICSI + advanced maternal age (AMA, n = 215), ICSI + positive triple test result (TT, n = 50), and ICSI + abnormal ultrasound findings (USG, n = 25). Results: An abnormal karyotype was found in 31.03% of males with azoospermia and 14.71% of males with OAT, in 3.57% of males and 1.64% of females in the group prior to ICSI, and in 5.30 and 5.07%, respectively, in the group following unsuccessful ICSI treatment. Gonosomal aneuploidies were predominant in males with azoospermia and autosomal rearrangements in males with OAT, while low-level sex chromosome mosaicism was found in females. The overall frequency of chromosome abnormalities in fetuses was 4.42% and varied in the different groups from 1.62% in ICSI, 2.79% in ICSI + AMA, 10.0% in ICSI + TT to 28.0% in ICSI + USG. The frequencies of the different types of chromosome abnormalities were as follows: balanced 1.05%, unbalanced 3.37%, familial 0.84%, de novo 3.37%, autosomal 3.58%, gonosomal 0.84%, numerical 1.89%, structural abnormalities 2.53%, and mosaicism 1.26%. Conclusion: Our results indicate that cytogenetic investigations of the ICSI parents and fetuses are essential for the families, genetic counselors and also reproductive centers. In fetal karyotyping, de novo structural chromosome abnormalities and mosaicism should be taken into consideration.

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Section: Discussionmentioning

confidence: 96%

The Results of Cytogenetic Analysis with Regard to Intracytoplasmic Sperm Injection in Males, Females and Fetuses

Başaran

Engür²,

Aytan³

et al. 2004

Fetal Diagn Ther

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“…However, if at least one of these 16 cells showed a loss or a gain of a gonosome, the number of analyzed metaphases was increased to 25. If a second abnormal cell was observed, the analysis was considered to be completed; if not, the number of metaphases was increased to 50 (13).…”

Section: Laboratory Analysismentioning

confidence: 99%

45,X/46,XX mosaicism below 30% of aneuploidy: clinical implications in adult women from a reproductive medicine unit

Homer

Martelot

Morel

et al. 2010

European Journal of Endocrinology

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Objective: Turner's syndrome (TS) is well known, but prognosis for 45,X/46,XX mosaicism below 30% of aneuploidy has not been established. We evaluated differences in clinical features and biological parameters between patients with numerical sex chromosome mosaicism diagnosed incidentally and control women. Design: Retrospective observational study of clinical features and biological parameters. Methods: Standard endocrinological and gynecological examination was done and early-follicularphase blood values were collected from the medical records of women aged 21-43, who were referred to our ward from 1996 to 2006 because of infertility and were karyotyped. Seventy-one women with sex chromosome mosaicism (45,X/46,XX) ranging from 4 to 28% were assigned a chromosomally normal woman (46,XX) matched according to age (nZ71). Results: In group 45,X/46,XX, 8% or more of aneuploidy accounted for a smaller height compared to controls (PZ0.01). Body mass index was increased from 6% of aneuploidy (PZ0.02) and was positively correlated to the percentage of 45,X cells (PZ0.0001); menarche occurred earlier from 10% of aneuploidy (PZ0.01) and was inversely correlated to the percentage of 45,X cells (PZ0.045). No difference was found between the groups for FSH, LH, estradiol, inhibin B, and TSH values. Spontaneous abortions were more frequent in case of mosaicism (PZ0.01), and recurrence was positively correlated to the percentage of aneuploidy (PZ0.008). Conclusion: Sex chromosome mosaicism is responsible for clinical changes from 6% of aneuploidy, corresponding to the main phenotypical features of TS.

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“…Based on our present and previous results [23], we presume that at least two different subgroups of patients with X chromosome mosaicism exist. The mean age of women with true X mosaicism and low-level X mosaicism was significantly different in both studies; in our recent study, the values were In couples with recurrent spontaneous abortion, X chromosome mosaicism was identified in 3-16% [33,[35][36][37][38][39]. In 50 cells counted, Düzcan et al showed mosaicism of either structural rearrangements or aneuploidies of sex chromosomes in 7 cases out of 354 with reproductive failure [38].…”

Section: Discussionmentioning

confidence: 62%

Chromosomal Abnormalities and Menstrual Cycle Disorders

Geršak¹,

Gersak²

2017

Chromosomal Abnormalities - A Hallmark Manifestation of Genomic Instability

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Chromosomal abnormalities have long been recognized as a cause of menstrual cycle disorders, premature ovarian insufficiency, and recurrent pregnancy loss. In women with X chromosome abnormalities, premature ovarian insufficiency is mainly a consequence of ovarian follicle depletion, due to insufficient initial follicle number and/or spontaneous accelerated follicle loss. The level of X chromosome mosaicism and its reproductive significance is still under debate. In our study, we evaluated the contribution of X chromosome abnormalities in women with sporadic idiopathic premature ovarian insufficiency (POI) and in women with a history of recurrent pregnancy loss. The results show that X aneuploidy and low-level mosaicism have reproductive significance in the phenotypically normal women with recurrent pregnancy loss and/or fertility problems. These results have practical implications for genetic counseling and fertility treatment.

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Sex chromosome mosaicism in couples undergoing intracytoplasmic sperm injection

Abstract: Our results support previously published studies indicating that the loss of an X chromosome in a single cell in females undergoing ICSI is probably an artefact. However, they suggest that a woman could have true sex chromosome mosaicism when two 45,X0 cells are found.

Cited by 22 publications

References 25 publications

The Results of Cytogenetic Analysis with Regard to Intracytoplasmic Sperm Injection in Males, Females and Fetuses

The Results of Cytogenetic Analysis with Regard to Intracytoplasmic Sperm Injection in Males, Females and Fetuses

45,X/46,XX mosaicism below 30% of aneuploidy: clinical implications in adult women from a reproductive medicine unit

Chromosomal Abnormalities and Menstrual Cycle Disorders

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