Increased efficiency of preimplantation genetic diagnosis for infertility using “no result rescue”

Colls, P.; Escudero, T.; Cekleniak, N.; Sadowy, Sasha; Cohen, Jacques; Munné, Santiago

doi:10.1016/j.fertnstert.2006.11.099

Cited by 121 publications

(119 citation statements)

References 23 publications

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“…22,[24][25][26] It is therefore particularly important that any diagnostic technique has low failure and high accuracy with as few false normal and abnormal results as practicable. In addition to the limitations of any genetic testing technology, mosaicism will also lead to inaccurate results although, as seen in our study and others, 23,27 the majority of mosaic embryos have only abnormal cells, which mitigates the extent of the error. 28 Our study also confirms that mosaicism resulting from mitotic anaphase lag is the predominant plausible mechanism.…”

Section: Discussionmentioning

confidence: 52%

Benefits and drawbacks of preimplantation genetic diagnosis (PGD) for reciprocal translocations: lessons from a prospective cohort study

et al. 2013

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Preimplantation genetic diagnosis (PGD) using fluorescence in situ hybridisation probes was carried out for 59 couples carrying reciprocal translocations. Before treatment, 85% of pregnancies had resulted in spontaneous miscarriage and five couples had achieved a healthy live-birth delivery. Following treatment, 33% of pregnancies failed and 21of 59 couples had a healthy live-born child. The accuracy of diagnosis was 92% (8% false abnormal and 0% false normal results). The overall incidence of 2:2 alternate segregation products was 44%; however, products consistent with 2:2 adjacent segregation were Btwice as likely from male heterozygotes, and those with 3:1 disjunction were three times more likely from female heterozygotes. Our results indicate that up to three stimulation cycles per couple would give an B50% chance of a successful live birth, with the risk of miscarriage reduced to the level found in the general population. In our study, 87% of all normal/balanced embryos available were identified as being suitable for transfer. We conclude that PGD provides benefit for couples with high-risk translocations by reducing the risk of miscarriage and avoiding a pregnancy with an unbalanced form of the translocation; however, for fertile carriers of translocations with a low risk of conceiving a chromosomally unbalanced offspring, natural conception may be a more viable option.

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Section: Discussionmentioning

confidence: 52%

Benefits and drawbacks of preimplantation genetic diagnosis (PGD) for reciprocal translocations: lessons from a prospective cohort study

et al. 2013

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“…However, the use of FISH with cleavage-stage embryos became more commonplace except in areas where policies prohibited such activity. The first clinical studies on cleavage-stage embryos showed increases in implantation and ongoing pregnancy rates as well as and decreases in spontaneous abortion rates [6,[20][21][22][23][24]. Even so, its use is still considered controversial as investigations to validate the use of PGS have yielded contradicting results.…”

Section: Chromosomal Abnormalitymentioning

confidence: 99%

Preimplantation genetic screening: does it help or hinder IVF treatment and what is the role of the embryo?

Agarwal

Nagy

2011

J Assist Reprod Genet

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Despite an ongoing debate over its efficacy, preimplantation genetic screening (PGS) is increasingly being used to detect numerical chromosomal abnormalities in embryos to improve implantation rates after IVF. The main indications for the use of PGS in IVF treatments include advanced maternal age, repeated implantation failure, and recurrent pregnancy loss. The success of PGS is highly dependent on technical competence, embryo culture quality, and the presence of mosaicism in preimplantation embryos. Today, cleavage stage biopsy is the most commonly used method for screening preimplantation embryos for aneuploidy. However, blastocyst biopsy is rapidly becoming the more preferred method due to a decreased likelihood of mosaicism and an increase in the amount of DNA available for testing. Instead of using 9 to 12 chromosome FISH, a 24 chromosome detection by aCGH or SNP microarray will be used. Thus, it is advised that before attempting to perform PGS and expecting any benefit, extended embryo culture towards day 5/6 should be established and proven and the clinical staff should demonstrate competence with routine competency assessments. A properly designed randomized control trial is needed to test the potential benefits of these new developments.

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“…The methodology used in some of these clinical trials has been severely criticized, and their conclusions questioned [7,8,20,21] thus giving rise to considerable controversy as to the true clinical validity of PGS-FISH. However, different authors have demonstrated the diagnostic validity of PGS-FISH, using as a gold standard the results obtained by subsequent rounds of FISH [22,23] or otherwise by analysing the embryo at more advanced stages of development, using FISH [17,[24][25][26][27][28]. The good results thus obtained contradict those of the above-mentioned clinical trials.…”

Section: Introductionmentioning

confidence: 97%

PGS-FISH in reproductive medicine and perspective directions for improvement: a systematic review

Zamora

Clavero

Gonzálvo

et al. 2011

J Assist Reprod Genet

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Increased efficiency of preimplantation genetic diagnosis for infertility using “no result rescue”

Cited by 121 publications

References 23 publications

Benefits and drawbacks of preimplantation genetic diagnosis (PGD) for reciprocal translocations: lessons from a prospective cohort study

Benefits and drawbacks of preimplantation genetic diagnosis (PGD) for reciprocal translocations: lessons from a prospective cohort study

Preimplantation genetic screening: does it help or hinder IVF treatment and what is the role of the embryo?

PGS-FISH in reproductive medicine and perspective directions for improvement: a systematic review

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