Article

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: 1.63). 04/2012; 163(1):47-51. DOI: 10.1016/j.ejogrb.2012.03.029
Source: PubMed

ABSTRACT 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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    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.
    Journal of Assisted Reproduction and Genetics 01/2013; 30(3). DOI:10.1007/s10815-012-9927-3 · 1.77 Impact Factor