Preimplantation genetic diagnosis: State of the art

Basille, C.; Frydman, René; Aly, Abdelwahab El; Hesters, Laëtitia; Fanchin, Rénato; Tachdjian, Gérard; Steffann, Julie; Lelorc’h, Marc; Achour-Frydman, Nelly

doi:10.1016/j.ejogrb.2009.04.004

Cited by 102 publications

(71 citation statements)

References 40 publications

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“…Previous studies looking at the perspectives of specific patient populations towards PGD have failed to show a statistically significant difference in attitudes between male and female respondents but were limited by small sample sizes [2,20].>Lammens et al looked at 119 families in the Netherlands at high risk for a familial cancer syndrome and found no difference in support of PGD between male and female respondents [20]. Van Lier et al interviewed 61 Dutch patients at high risk for Peutz-Jeghers syndrome and again found no difference in support of PGD by gender.…”

Section: Discussionmentioning

confidence: 94%

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Public perspectives on the use of preimplantation genetic diagnosis

Winkelman

Missmer

Myers

et al. 2015

J Assist Reprod Genet

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Purpose To study the perspectives of the United States population towards the use of preimplantation genetic diagnosis (PGD) in various clinical scenarios. Methods Online cross-sectional population based questionnaire of a nationally representative sample according to age, gender, race/ethnicity, income, education and religion. Results A total of 1006 completed the questionnaire with an overall response rate of 94 %. A majority supported PGD for diseases fatal early in life or those causing lifelong disability (72.9 and 66.7 %, respectively); only 48.0 % supported PGD for diseases that manifest late in life. Respondents were more supportive of PGD for genetic diseases if they were aware of PGD prior to the survey (OR=1.64; CI=1.13-2.39). However, a small proportion were in favor of genetically-based trait selection: 21.1 % supported PGD for sex selection, 14.6 % for physical traits and 18.9 % for personality traits. Compared to women, men were nearly two-to three-fold more supportive of PGD for sex selection (OR=1.65; CI=1.20-2.78), physical traits (OR=2.38; CI=1.60-3.48) and personality traits (OR= 2.31; CI=1.64-3.26). Compared to Caucasians, Asians (OR= 3.87; CI=1.71-8.78) and African Americans (OR=1.61; CI= 1.04-2.74) were more supportive of PGD for sex selection. Conclusions In a nationally representative sample, a majority supported PGD to identify early onset diseases. We noted significant variation in opinions by sex, race, and education. There was more support among those with prior knowledge of PGD suggesting that education about PGD may foster favorable opinions. This study identifies public knowledge and attitudes that may be used to shape future research hypotheses and clinical policies.

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Section: Discussionmentioning

confidence: 94%

“…The use of PGD to screen for genetic disorders has led to ongoing medical and ethical debates among healthcare providers both within the United States and internationally [2][3][4].…”

Section: Introductionmentioning

confidence: 99%

Public perspectives on the use of preimplantation genetic diagnosis

Winkelman

Missmer

Myers

et al. 2015

J Assist Reprod Genet

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“…Subsequently, mutation free embryos are selected and transferred into the uterus. 178 Conclusively, based on the fact that HCM does not significantly affect longevity, genetic engineering is not a priority nowadays. Gene therapy is mostly suitable for recessively inherited defects induced by mutations which partially or completely alter enzyme function.…”

Section: Gene Therapy For Hcmmentioning

confidence: 99%

The mechanisms, diagnosis and management of mitral regurgitation in mitral valve prolapse and hypertrophic cardiomyopathy

Popa

Irimia

Papagheorghe

et al. 2016

Discoveries (Craiova)

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“…Most of them are fertile, but have been diagnosed with a specific genetic disease and this technique offers them the possibility to know the health status of their embryos before undertaking the pregnancy [1]. In many cases, they have a previous history of recurrent miscarriages of genetic origin or affected pregnancy terminations following invasive prenatal diagnosis procedure such as amniocentesis or chorionic villus sampling [2]. However, patients are usually advised to further perform prenatal diagnosis to confirm the status of the baby.…”

Section: Introductionmentioning

confidence: 99%

“…PGD diagnoses three main groups of inheritable disease: 1) monogenic disorders, which can affect autosomes or sex chromosomes with autosomal dominant, autosomal recessive, X-linked inheritance; 2) triplet repeat disorders, caused by an expansion of a triplet repeat of bases on a chromosome; 3) chromosome abnormalities, which can be numerical (aneuploidies) or structural (translocations or inversions) [1,2]. Additionally, PGD can be used to perform sex selection for non-medical reasons, [3,4] to detect mutations that can predispose to specific diseases (such as BRCA1 mutation which predispose to breast cancer) [5], to detect late-onset neurodegenerative disorders such as Huntington's disease [5,6] and for HLA typing [7].…”

Section: Introductionmentioning

confidence: 99%

Preimplantation genetic diagnosis and the biopsy technique: Important considerations

Greco¹,

Fabozzi²,

Ruberti³

et al. 2013

ARSci

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Preimplantation genetic diagnosis allows to test the genetic status of embryos prior to implantation. In order to obtain genetic material, on which carry out a genetic diagnosis, a procedure named embryo biopsy is required. In the last two decades, embryo biopsy at the cleavage stage has been the mostly performed procedure. However, recently, alternative methods allowing the retrieval of a larger number of cells (blastocyst stage biopsy), or representing a valid alternative to overcome ethical issues (polar body biopsy) have obtained increasing consensus. This article reviews different methods of embryo biopsy and points out their positive and negative aspects.

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Preimplantation genetic diagnosis: State of the art

Cited by 102 publications

References 40 publications

Public perspectives on the use of preimplantation genetic diagnosis

Public perspectives on the use of preimplantation genetic diagnosis

The mechanisms, diagnosis and management of mitral regurgitation in mitral valve prolapse and hypertrophic cardiomyopathy

Preimplantation genetic diagnosis and the biopsy technique: Important considerations

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