Rapid and powerful decaplex and dodecaplex PGD protocols for Duchenne muscular dystrophy

Girardet, Anne; Fernández, C. Mata; Claustres, Mireille

doi:10.1016/j.rbmo.2009.09.023

Cited by 7 publications

(5 citation statements)

References 28 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Although multinucleation has long been considered as a nuclear abnormality (Sathananthan et al, 1990) and transfer of MN embryos has generally been avoided (Girardet et al, 2009;Scott et al, 2007), some authors transferred MN embryos diagnosed solely based on light microscopy (Balakier and Cadesky, 1997). Transfer of MN embryos diagnosed based on fixation and staining of nuclei has also been reported (Ambroggio et al, 2011;Xanthopoulou et al, 2011) although no pregnancy was established in those studies.…”

Section: Discussionmentioning

confidence: 99%

Chromosomal complement and clinical relevance of multinucleated embryos in PGD and PGS cycles

Yılmaz

Zhang

et al. 2014

Reproductive BioMedicine Online

View full text Add to dashboard Cite

The objective of this retrospective study was to investigate the incidence and clinical implications of multinucleation in blastomeres biopsied from cleavage-stage embryos obtained from patients undergoing preimplantation genetic screening (PGS) for aneuploidies or preimplantation genetic diagnosis (PGD) for translocations or single-gene defects (SGD). A total of 3515 embryos were obtained from 306 couples in 380 PGD or PGS cycles. Incidence of multinucleation, chromosomal complement in multinucleated (MN) and sibling embryos and the characteristics of MN embryos resulting in healthy births were investigated. Of all cycles, 41.3% involved at least one MN embryo. There were more uniformly diploid than uniformly haploid nuclei (22.0% versus 7.9%, P<0.01). The most common form of abnormality was chaotic chromosomal complement (39.9%, 147/368). Transfer of embryos that had MN blastomeres free of the genetic abnormalities tested resulted in three healthy deliveries. It is concluded that, although the majority of MN blastomeres are chromosomally abnormal, healthy births are possible after transfer of embryos containing these blastomeres subjected to genetic analysis. As far as is known, this is the first report of healthy births after transfer of embryos with MN blastomeres tested for translocations or SGD in PGD cycles. Preimplantation genetic diagnosis (PGD) is an established method for selecting genetically healthy embryos for transfer. A blastomere sampled from the developing embryo is subjected to genetic analysis. Some of these blastomeres may contain multiple nuclei, complicating the genetic diagnosis. We investigated clinical implications of multinucleation in PGD cycles. Our results indicate that majority of the multinucleated blastomeres, and consequently embryos, are genetically abnormal. However, healthy births are possible after transfer of multinucleated embryos that are free of the genetic abnormalities screened.

show abstract

Section: Discussionmentioning

confidence: 99%

Chromosomal complement and clinical relevance of multinucleated embryos in PGD and PGS cycles

Yılmaz

Zhang

et al. 2014

Reproductive BioMedicine Online

View full text Add to dashboard Cite

show abstract

“…Single-cell mutation testing was performed using different methods according to the disease and/or evolution of techniques throughout the years, mainly primer-extension mini-sequencing for point mutations (Fiorentino et al, 2003) and fragment size analysis for small deletions and insertions, or limited trinucleotide repeat expansions. Our protocols specifically designed for the most common disorders have been previously published (Girardet et al, 2003b(Girardet et al, , 2008(Girardet et al, , 2009(Girardet et al, , 2015. Generally, they were versatile enough to make it possible to simultaneously amplify several combinations of STR depending on the couple informativity.…”

Section: Single-cell Testing Work-upmentioning

confidence: 99%

Thirteen years' experience of 893 PGD cycles for monogenic disorders in a publicly funded, nationally regulated regional hospital service

Girardet¹,

Ishmukhametova²,

Viart³

et al. 2018

Reproductive BioMedicine Online

View full text Add to dashboard Cite

This study provides an overview of preimplantation genetic diagnosis (PGD) for single gene diseases and the management of expanding indications in the context of a fully financially covered service at Montpellier's regional hospital centre. Within the framework of a restrictive law ruling PGD in France, only the parental genetic risk can be studied in embryos (concurrent aneuploidy screening is not allowed). PCR-based techniques were developed combining mutation detection and closely linked short tandem repeat markers within or flanking the affected genes, and set up more than 100 different robust fluorescent multiplex assays for 61 monogenic disorders. This strategy was used to analyse blastomeres from cleavage-stage embryos. Overall, 893 cycles were initiated in 384 couples; 727 cycles proceeded to oocyte retrieval and 608 cycles to embryo transfer, resulting in 184 deliveries. Clinical pregnancy rate per transfer, implantation and miscarriage rates were 33.6%, 25.1% and 8.8%, respectively. Our PGD programme resulted in the birth of 214 healthy babies for 162 out of 358 couples (45.3%), constituting a relevant achievement within an organizational framework that does not allow aneuploidy screening but provides equal access to PGD, both geographically and socioeconomically. This is a rare example of a fully free-of-charge PGD service.

show abstract

“…Chorionic villus sampling (CVS) and amniocentesis (AC) are commonly used invasive prenatal testing (IPTs) for the prenatal diagnosis of DMD. Preimplantation Genetic Diagnosis (PGD) may be another alternative [ 8 ]. Besides, cell-free fetal DNA (cffDNA) has been in practice during the recent years, but it is not a routine part of the prenatal screening owing to various limitations [ 9 ].…”

Section: Introductionmentioning

confidence: 99%

Gestational Outcomes of Pregnant Women Who Have Had Invasive Prenatal Testing for the Prenatal Diagnosis of Duchenne Muscular Dystrophy

Beksaç

Hakli

Örgül

et al. 2018

Journal of Pregnancy

View full text Add to dashboard Cite

Aim To show the importance of prenatal diagnosis of Duchenne Muscular Dystrophy (DMD) and to demonstrate the effect of DMD gene mutations on gestational outcomes. Materials and Methods We retrospectively evaluated 89 pregnancies in 81 individuals who were referred to Hacettepe University for prenatal diagnosis of DMD between January 2000 and December 2015. Prenatal diagnostic methods (chorionic villus sampling (CVS): 66, amniocentesis (AC): 23) were compared for test results, demographic features, and obstetric outcomes of pregnancies. The female fetuses were divided into two groups according to the DMD status (healthy or carrier) to understand the effect of DMD gene mutations on obstetric outcomes. Results Eight prenatally diagnosed disease-positive fetuses were terminated. There was no statistically significant difference between the CVS and AC groups in terms of study variables. There were 46 male fetuses (51.6%) and 43 female fetuses (48.4%). Fifteen of the female fetuses were carriers (34.8%). Median birthweight values were statistically insignificantly lower in the carrier group. Conclusion Pregnancies at risk for DMD should be prenatally tested to prevent the effect of disease on families and DMD carrier fetuses had obstetric outcomes similar to DMD negative female fetuses.

show abstract

Rapid and powerful decaplex and dodecaplex PGD protocols for Duchenne muscular dystrophy

Cited by 7 publications

References 28 publications

Chromosomal complement and clinical relevance of multinucleated embryos in PGD and PGS cycles

Chromosomal complement and clinical relevance of multinucleated embryos in PGD and PGS cycles

Thirteen years' experience of 893 PGD cycles for monogenic disorders in a publicly funded, nationally regulated regional hospital service

Gestational Outcomes of Pregnant Women Who Have Had Invasive Prenatal Testing for the Prenatal Diagnosis of Duchenne Muscular Dystrophy

Contact Info

Product

Resources

About