Pre-implantation genetic screening and diagnosis: what doctors should know

Maia, Sammya Bezerra; Moura, Holanda; Kane, Stefan C.

doi:10.1590/so100-720320140004963

Cited by 3 publications

(2 citation statements)

References 25 publications

(44 reference statements)

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“…Women of advanced reproductive age have augmented rates of aneuploidy, genetic defects, and miscarriages [28, 29], all of which can be detected with Preimplantation Genetic Testing [30]. Alone, these factors limit 30% of all natural fertilization cycles to reach clinical pregnancy and even less for IVF cycles [31, 32].…”

Section: Discussionmentioning

confidence: 99%

A simple, less invasive stripper micropipetter-based technique for day 3 embryo biopsy

Cedillo¹,

Ocampo-Bárcenas²,

Maldonado³

et al. 2016

Fertil Res and Pract

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BackgroundPreimplantation genetic screening (PGS) is an important procedure for in vitro fertilization (IVF). A key step of PGS, blastomere removal, is abundant with many technical issues. The aim of this study was to compare a more simple procedure based on the Stipper Micropipetter, named S-biopsy, to the conventional aspiration method.MethodsOn Day 3, 368 high-quality embryos (>7 cells on Day3 with <10% fragmentation) were collected from 38 women. For each patient, their embryos were equally separated between the conventional method (n = 188) and S-biopsy method (n = 180). The conventional method was performed using a standardized protocol. For the S-biopsy method, a laser was used to remove a significantly smaller portion of the zona pellucida. Afterwards, the complete embryo was aspirated with a Stripper Micropipetter, forcing the removal of the blastomere. Selected blastomeres went to PGS using CGH microarrays. Embryo integrity and blastocyst formation were assessed on Day 5. Differences between groups were assessed by either the Mann-Whitney test or Fisher Exact test.ResultsBoth methods resulted in the removal of only one blastomere. The S-biopsy and the conventional method did not differ in terms of affecting embryo integrity (95.0% vs. 95.7%) or blastocyst formation (72.7% vs. 70.7%). PGS analysis indicated that aneuploidy rate were similar between the two methods (63.1% vs. 65.2%). However, the time required to perform the S-biopsy method (179.2 ± 17.5 s) was significantly shorter (5-fold) than the conventional method.ConclusionThe S-biopsy method is comparable to the conventional method that is used to remove a blastomere for PGS, but requires less time. Furthermore, due to the simplicity of the S-biopsy technique, this method is more ideal for IVF laboratories.Electronic supplementary materialThe online version of this article (doi:10.1186/s40738-016-0027-4) contains supplementary material, which is available to authorized users.

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Section: Discussionmentioning

confidence: 99%

A simple, less invasive stripper micropipetter-based technique for day 3 embryo biopsy

Cedillo¹,

Ocampo-Bárcenas²,

Maldonado³

et al. 2016

Fertil Res and Pract

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“…The selection of embryos for in vitro fertilization (IVF) based on 3‐ or 5‐day morphologic criteria does not guarantee that embryos have normal karyotypes and high implantation potential . Pre‐implantation genetic screening (PGS) is a diagnostic technique for the pre‐implantation screening of embryos; the goal of this technique is to transfer only healthy embryos into the uterus, and to reduce repeated spontaneous abortion or induced abortion following the identification of anomalous karyotypes …”

Section: Introductionmentioning

confidence: 99%

Pre‐implantation genetic screening among women experiencing recurrent failure of in vitro fertilization

Hatırnaz¹,

Özer

Hatırnaz³

et al. 2017

Intl J Gynecology & Obste

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Reproductive outcome following pre-implantation genetic diagnosis (PGD) in the UK

2017

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In 2013, the National Health Service Commissioning board centralized the funding in England for up to three cycles of pre-implantation genetic diagnosis (PGD) for couples who have, or are carriers of, a specific genetic disorder. This study presents the historical data of PGD cycles and their clinical outcomes in UK as extrapolated from the national data registry. Retrospective analysis of outcome of cycles undergoing pre-implantation genetic diagnosis in the UK over the past 20 years was performed from the Human Fertilisation and Embryology Authority database (n = 2974). Binary logistic regression was used to determine trends over time and adjusted for maternal age. Briefly, the number of PGD cycles has risen 127-fold from 1991 to 2012 with 3.6-fold increase (360% rise) from 2004 to 2012. A total of one in four embryos following pre-implantation genetic diagnosis did not reach embryo transfer and 92% of these were due to a failure to survive. The live birth rate has risen over 20 years and there has been a steady decline in reported incidence of congenital abnormalities (p< 0.07). PGD has thus emerged as a safe and effective alternative to prenatal diagnosis but with ever evolving technological advances, a robust system of data collection that incorporates techniques used and reporting of mutation-specific clinical outcomes is suggested.

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Pre-implantation genetic screening and diagnosis: what doctors should know

Abstract: Pre-implantation genetic screening Commonly quoted indications for PGS include advanced maternal age, repeated implantation failure, recurrent miscarriage, severe male factor infertility, or subfertility

Cited by 3 publications

References 25 publications

A simple, less invasive stripper micropipetter-based technique for day 3 embryo biopsy

A simple, less invasive stripper micropipetter-based technique for day 3 embryo biopsy

Pre‐implantation genetic screening among women experiencing recurrent failure of in vitro fertilization

Reproductive outcome following pre-implantation genetic diagnosis (PGD) in the UK

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