Preimplantation diagnosis of the aneuploidies most commonly found in spontaneous abortions and live births: XY, 13, 14, 15, 16, 18, 21, 22

Munné, Santiago; Magli, M. Cristina; Bahçe, Muhterem; Fung, Jennifer C.; Legator, Mona S.; Morrison, Larry E.; Cohert, Jacques; Gianaroli, Luca

doi:10.1002/(sici)1097-0223(199812)18:13<1459::aid-pd514>3.0.co;2-v

Cited by 215 publications

(108 citation statements)

References 28 publications

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“…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]. Though increasingly being applied clinically the reproducibility of PGD for aneuploidy screening in women with repeated implantation failure remains unclear.…”

Section: Discussionmentioning

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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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%

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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confidence: 99%

Analysis of nine chromosome probes in first polar bodies and metaphase II oocytes for the detection of aneuploidies

et al. 2003

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We used fluorescent in situ hybridisation (FISH) to detect nine chromosomes (1,13,15,16,17,18,21,22 and X) in 89 first Polar Bodies (1PBs), from in vitro matured oocytes discarded from IVF cycles. In 54 1PBs, we also analysed the corresponding oocyte in metaphase II (MII) to confirm the results; the other 35 1PBs were analysed alone as when preimplantation genetic diagnosis using 1PB (PGD-1PB) is performed. The frequency of aneuploid oocytes found was 47.5%; if the risk of aneuploidy for 23 chromosomes is estimated, the percentage rises to 57.2%. Missing chromosomes or chromatids found in 1PBs of 1PB/MII doublets were confirmed by MII results in 74.2%, indicating that only 25.8% of them were artefactual. Abnormalities observed in 1PBs were 55.8% whole-chromosome alterations and 44.2% chromatid anomalies. We observed a balanced predivision of chromatids for all chromosomes analysed. Differences between balanced predivision in 1PB and MII were statistically significant (Po0.0001, v 2 test); the 1PB was most affected. The mean abnormal segregation frequency for each chromosome was 0.89% (range 0.52-1.70%); so, each of the 23 chromosomes of an oocyte has a risk of 0.89% to be involved in aneuploidy. No significant differences were observed regarding age, type of abnormality (chromosome or chromatid alterations) or frequency of aneuploidy. Nine of the 35 patients (25.7%) whose 1PB and MII were studied presented abnormalities (extra chromosomes) that probably originated in early oogenesis. Analysis of 1PBs to select euploid oocytes could help patients of advanced age undergoing in vitro fertilization (IVF) treatment.

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“…Advanced maternal age is well known to increase the risk of aneuploid pregnancy (8). This may be more noticeable in Robertsonian translocation carriers because the most commonly found aneuploidies in embryos include the same chromosomes that are also involved in Robertsonian translocations, such as chromosomes 13, 14, 15, 21, and 22 (9)(10)(11)(12). In the present study, the majority of embryos in Robertsonian translocation carriers involved chromosomes 13, 14, and 21.…”

Section: Discussionmentioning

confidence: 99%

PGD management scheme for older females with balanced translocations: Do older females have less chance of balanced embryo transfer?

Tulay

Gültomruk²,

Fındıklı³

et al. 2016

J Turkish German Gynecol Assoc

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Patient informationTranslocation carriers were subdivided according to maternal age (<35 years and advanced maternal age of ≥35 years) and translocation type, i.e., reciprocal and Robertsonian. A total of 20 couples with maternal ages of <35 years with 37 PGD cycles were analyzed within the reciprocal translocation carrier group. The advanced maternal age group of reciproObjective: Carriers of reciprocal and Robertsonian translocations have a higher risk of experiencing infertility and repeated miscarriages. It is well established that with advancing maternal age, the risk of aneuploidies in embryos increases. In this study, the chance of developing balanced embryos in translocation carriers with advanced maternal age was analyzed to establish a management scheme for couples seeking fertility treatment and preimplantation genetic diagnosis (PGD). Material and Methods:Biopsy was performed on cleavage-stage embryos. Multicolor fluorescence in situ hybridization was used for PGD.The translocation carriers underwent a total of 55 cycles of PGD. Genetics diagnosis and cycle outcomes of PGD cases were examined.Results: This study showed that the chance of obtaining a balanced embryo from the Robertsonian translocation carriers was significantly less when the maternal age is advanced. Similar rates for balanced embryos were obtained from the reciprocal translocation carriers. Conclusion:The results of this study show that maternal age plays an important role and that genetic counselling and planning for a PGD cycle in translocation carriers, particularly for Robertsonian carriers, must be accordingly adapted. (J Turk Ger Gynecol Assoc 2016; 17: 91-5) Keywords: PGD, maternal

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Preimplantation diagnosis of the aneuploidies most commonly found in spontaneous abortions and live births: XY, 13, 14, 15, 16, 18, 21, 22

Cited by 215 publications

References 28 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

Analysis of nine chromosome probes in first polar bodies and metaphase II oocytes for the detection of aneuploidies

PGD management scheme for older females with balanced translocations: Do older females have less chance of balanced embryo transfer?

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