Preimplantation genetic screening reveals a high incidence of aneuploidy and mosaicism in embryos from young women undergoing IVF

Baart, Esther B.; Martini, Elena; Berg, I. van den; Macklon, Nick S.; Galjaard, R. J. H.; Fauser, Bart C.J.M.; Opstal, Diane Van

doi:10.1093/humrep/dei291

Cited by 280 publications

(192 citation statements)

References 44 publications

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“…An increased frequency of aneuploid embryos has been observed in a subgroup of women with recurrent implantation failure regardless of their reproductive age undergoing assisted reproductive technologies [1,2,4]. The incorporation of preimplantation genetic diagnosis into assisted reproductive technologies has afforded these women the chance to select and transfer only chromosomally normal embryos, as conventional methods to identify the best euploid embryo for transfer by morphological criteria alone are suboptimal [8][9][10][11][12][13][14].…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Predictive value of preimplantation genetic diagnosis for aneuploidy screening in repeated IVF-ET cycles among women with recurrent implantation failure

Pagidas

Ying

Keefe

2008

J Assist Reprod Genet

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Objective To determine the predictive value of euploid embryos in women with recurrent implantation failure undergoing repeated IVF-ET cycles with PGD (PGD). Design Cohort of IVF-PGD cycles in a tertiary care ART facility. Materials and method(s) Fifty-five consecutive patients with repeated implantation failure (more than three failed IVF-ET cycles) underwent two or more PGD cycles for aneuploidy testing. Mean maternal age was 37.6±5.3 years. Biopsies were performed on day 3. One blastomere was removed from each pre-embryo, fixed and analyzed by multicolor and multi-probe FISH for chromosomes X and Y, 13, 15, 16, 17, 18, 21, and 22. Result(s) Forty-three of 55 patients (78%) undergoing PGD had at least one euploid embryo for transfer. Of these 31 patients (72%) also had at least one euploid embryo available for transfer with the second cycle. Of the 12 (28%) patients with no euploid embryos available for transfer with the second IVF/PGD cycle, five had a third cycle of PGD and two of these had euploid embryos available for transfer. Seventeen of the 31 patients (55%) who had euploid embryos on the second PGD cycle conceived. The ongoing pregnancy and implantation rates in patients with at least one euploid embryo were 40% and 18%, respectively. Twelve of the 55 patients (22%) had no euploid embryos available for transfer on the first PGD cycle, but on the second PGD cycle, six (50%) of these had euploid embryos for transfer. Only two pregnancies were achieved among this group of women, yielding a pregnancy rate of 17%, but both conceptions resulted in miscarriage. Of the six patients with no euploid embryos available after the second PGD cycle, four patients had a third IVF/PGD cycle, but none had euploid embryos available for transfer. Also, among women with euploid embryos available only in either the first or second PGD cycle, but not both, no ongoing pregnancy was achieved. No woman who had a PGD cycle productive of no euploid embryos had an ongoing pregnancy. Significant differences were found in terms of ongoing pregnancy (40%, P<0.05) and implantation rates (18%, P<0.05) in women with euploid embryos available for transfer with the first and second IVF/PGD cycles, compared to women with no euploid embryos available for transfer with either the first or second cycle. The positive predictive value of the first euploid cycle predicting a second euploid cycle was 72%, 95% CI 0.66-0.78. The negative predictive value of an aneuploid cycle was 50%, 95% CI 0.27-0.72. The sensitivity and specificity of the first PGD cycle predicting the second was 84%, 95% CI 0.77-0.91 and 33%, 95% CI 0.18-0.48, respectively. Conclusion(s) Even with a history of recurrent implantation failure, the availability of euploid embryos, especially on two, consecutive PGD cycles is associated with high ongoing pregnancy and implantation rates. Conversely, the absence of euploid embryos for transfer predicts poor reproductive outcome, even if subsequent cycles do yield euploid embryos.

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Section: Discussionmentioning

confidence: 99%

“…Chromosomal aberrations in embryos contribute not only to spontaneous abortions, but also recurrent failed implantation among women with unexplained infertility, regardless of maternal age [1,2]. Aneuploidy is the leading cause of spontaneous abortions and mental retardation among women of advancing age [3,4].…”

Section: Introductionmentioning

confidence: 99%

Predictive value of preimplantation genetic diagnosis for aneuploidy screening in repeated IVF-ET cycles among women with recurrent implantation failure

Pagidas

Ying

Keefe

2008

J Assist Reprod Genet

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“…Most criticism of the procedure had been directed at technical limitations of PGS#1 and different technical performance levels at different laboratories [24]: Single (and at times 2-cell) blastomere embryo biopsy on day-3 after fertilization (6-to 8-cell stage embryos) was criticized since embryos at this developmental stage often are mosaic, resulting in false-positive and false-negative results, depending on which blastomeres of an embryos are assessed [25] and which embryos "self-correct" by segregating abnormal cell lines [24,25].…”

Section: Search Strategymentioning

confidence: 99%

“…Aneuploid embryos often demonstrate multiple chromosomal defects. Linkages between different chromosomes, therefore, were believed to detect most chromosomally abnormal embryos, even when assessing only limited chromosome numbers [25,26].…”

Section: Search Strategymentioning

confidence: 99%

A review of, and commentary on, the ongoing second clinical introduction of preimplantation genetic screening (PGS) to routine IVF practice

Gleicher

Barad

2012

J Assist Reprod Genet

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“…The probability for a child with DS is not correlated with paternal age. However, in a small cohort of families an age independent high risk for pregnancies with different trisomies has been observed (Munné et al, 2004;Baart et al, 2006). Molecular investigations made it probable that in these cases the increased aneuploidy rate is caused by an autosomal recessive mutation.…”

Section: Parents With Normal Karyotype Having a Child With Dsmentioning

confidence: 99%

Genetics of Down Syndrome

Eggermann¹,

Schwanitz²

2011

Genetics and Etiology of Down Syndrome

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Preimplantation genetic screening reveals a high incidence of aneuploidy and mosaicism in embryos from young women undergoing IVF

Cited by 280 publications

References 44 publications

Predictive value of preimplantation genetic diagnosis for aneuploidy screening in repeated IVF-ET cycles among women with recurrent implantation failure

Predictive value of preimplantation genetic diagnosis for aneuploidy screening in repeated IVF-ET cycles among women with recurrent implantation failure

A review of, and commentary on, the ongoing second clinical introduction of preimplantation genetic screening (PGS) to routine IVF practice

Genetics of Down Syndrome

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