Chromosomal aberrations in couples undergoing intracytoplasmic sperm injection: influence on implantation and ongoing pregnancy rates

Scholtes, Michael; Behrend, Claudia; Dietzel-Dahmen, Jutta; Hoogstraten, Dagmar G van; Marx, K Paul; Wohlers, Suzanne; Verhoeven, Hugo C.; Zeilmaker, G. H.

doi:10.1016/s0015-0282(98)00310-0

Cited by 73 publications

(55 citation statements)

References 30 publications

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“…One difficulty comes from the fact that there is no consensus on the definition of low level mosaicism, which has been considered by some authors as the presence of !10% of abnormal cells (7)(8)(9)(10) and by others as the presence of !6% of abnormal cells (3).…”

Section: Introductionmentioning

confidence: 92%

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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Section: Introductionmentioning

confidence: 92%

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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“…Moreover it has been shown that LLM in females has no effect on the course and outcome of assisted reproductive treatment (Sontag et al, 2001). The above definition of LLM, which is frequently encountered in the literature (Meshede et al, 1998;Scholtes et al, 1998;Gekas et al, 2001;Sontag et al, 2001), was also used in the current study and therefore these cases were not considered abnormal. For the purpose of this study we considered as secondary infertility only infertility after spontaneous conceptions.…”

Section: Cytogenetic Analysismentioning

confidence: 99%

Is chromosome analysis mandatory in the initial investigation of normovulatory women seeking infertility treatment?

Papanikolaou¹,

Vernaeve²,

Kolibianakis³

et al. 2005

Human Reproduction

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BACKGROUND: There is no agreement about the frequency of chromosomal abnormalities (CAs) in the female partner of an infertile couple and therefore there is no evidence base for determining whether karyotype analysis is mandatory before the initiation of infertility treatment. The aim of this prospective study was to estimate the prevalence of karyotype abnormalities in normovulatory women attending an infertility clinic and compare it to that known to be present in the newborn female population. METHODS: Cytogenetic testing was performed in 1206 women with normal ovulatory cycle seeking infertility treatment. At least 15 GTG-banded metaphases were analysed in each case. In the case of a structural abnormality, fluorescent in situ hybridization (FISH) analysis and high resolution banding (HRB) were performed on a new blood sample to elucidate the aberration. When mosaicism was suspected, the number of analysed metaphases was increased to a total of 115 and an additional analysis of 200 metaphases was done on a second blood sample. RESULTS: A chromosomal abnormality was demonstrated in 0.58% (95% CI: 0.28-1.19) of cases which did not differ significantly from that reported in female newborns (0.79%; 95% CI: 0.68-0.94). Balanced reciprocal translocation was observed in 0.4% of patients (n = 5), paracentric inversion of chromosome X in 0.08% (n = 1) and gonosomal mosaicism in 0.08% (n = 1). However, chromosomal aberrations were less common among females with primary infertility compared to those with secondary infertility (0.25 versus 1.25%, P = 0.04). CONCLUSIONS: The present study suggests that routine cytogenetic analysis cannot be advocated in normovulatory infertile women. Nevertheless, the relatively higher frequency of abnormal karyotypes in women with secondary infertility indicates that this subgroup of patients might benefit from a routine karyotype analysis.

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“…Altogether, chromosome abnormalities seem to be 10 times more frequent in men with decreased sperm counts compared to a fertile control population . This results in a risk of about 4-5% Scholtes et al, 1998]. …”

Section: Chromosome Abnormalitiesmentioning

confidence: 99%

“…Interestingly, some authors have also described an increased risk of chromosome abnormalities in female partners among couples who undergo ICSI treatment [Meschede et al, 1998a;Scholtes et al, 1998]. Scholtes et al [1998] published data from 1,164 women, partners of men with severe semen impairment, who planned to undergo ICSI treatment.…”

Section: Chromosome Abnormalitiesmentioning

confidence: 99%

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Is Intracytoplasmic Sperm Injection Itself an Indication to Perform Preimplantation Genetic Diagnosis (PGD)?

Ludwig¹,

Geipel²,

Berg³

et al. 2001

Fetal Diagn Ther

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Intracytoplasmic sperm injection (ICSI) provides the only sufficient treatment to overcome severe forms of male infertility. However, male infertility is linked to several genetic problems as an increased number of chromosomal aberrations, cystic fibrosis transmembrane conductance regulator gene mutations, Y-chromosome microdeletions, and androgen receptor mutations. Therefore, these couples are at a higher risk of transmitting genetic problems to their offspring compared to the general population. A proposed increased number of gonosomal aberrations in the offspring possibly results from the ICSI technique itself. This led in general to a worldwide agreement to counsel those couples to undergo invasive prenatal diagnosis in order to exclude chromosome abnormalities, especially gonosomal aberrations. In this paper the genetic risks of these couples and the possible implications of ICSI itself are discussed. Preimplantation genetic diagnosis may be considered a procedure of choice in these cases, but substantial ethical problems arise when such a screening is sought. An alternative procedure of prenatal diagnosis in these couples seems to be ‘genetic sonography’, i.e. high-resolution ultrasound with measurement of nuchal translucency at the end of the first trimester, and detailed fetal evaluation at 18–22 weeks of gestation.

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Chromosomal aberrations in couples undergoing intracytoplasmic sperm injection: influence on implantation and ongoing pregnancy rates

Cited by 73 publications

References 30 publications

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

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

Is chromosome analysis mandatory in the initial investigation of normovulatory women seeking infertility treatment?

Is Intracytoplasmic Sperm Injection Itself an Indication to Perform Preimplantation Genetic Diagnosis (PGD)?

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