The application of modified multiple displacement amplification combined with short tandem repeats polymorphism in 23 preimplantation genetic diagnosis cycles

Shen, Xiaoting; Xu, Yan; Zhou, Chunyun; Zhong, Yinhuan; Zeng, Yi-Xin; Ding, Chenyang

doi:10.1016/j.fertnstert.2012.07.494

Cited by 3 publications

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“…Based on the outcomes of MDA amplifi cation with subsequent PCR assay, we recorded a 16% ADO rate in accordance with other studies (26)(27)(28)(29), presenting a 5-31 % range of ADO rate using the same PGD procedure.…”

Section: Discussionsupporting

confidence: 73%

Preimplantation genetic diagnosis of X-linked diseases examined by indirect linkage analysis

Borgulová¹,

Putzová²,

Soldatova³

et al. 2015

BLL

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BACKGROUND: Many centers of assisted reproduction in the Czech Republic offer preimplantation genetic diagnosis with fl uorescent in situ hybridization (FISH) to couples requiring preimplantation genetic diagnosis (PGD) of X-linked diseases. However, this process results in discarding all male embryos and is not able to distinguish a carrier or healthy female embryo in X-linked recessive disorders. OBJECTIVES: The main aim of this study was to summarize a six-year period of PGD of X-linked monogenic diseases using indirect linkage analysis. METHODS AND RESULTS: We wanted to accentuate the advantage indirect analysis of PGD using multiple displacement amplifi cation (MDA) followed by short tandem repeat (STR) analysis. We present forty-six PGD cycles, including pre-case haplotyping (PGH) panel, for fi fteen X-linked diseases. Embryo transfer was made thirty-eight times and gravidity was confi rmed in thirteen female probands with a success rate of pregnancy calculated at 42 %. CONCLUSIONS: PGD procedure using MDA amplifi cation followed by STR analysis provides help in identifying genetic defects within embryos prior to implantation. The reliability of the method was also supported by high pregnancy rate compared to other publications, which commonly achieved a 30-35 % success rate (Tab. 2, Fig. 1, Ref. 33).

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Section: Discussionsupporting

confidence: 73%

Preimplantation genetic diagnosis of X-linked diseases examined by indirect linkage analysis

Borgulová¹,

Putzová²,

Soldatova³

et al. 2015

BLL

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“…In the current study, ADO rate was estimated from the re-analysis of blastomeres from discarded heterozygous embryos[ 15 ] or lymphocytes isolated from peripheral blood of heterozygous carriers[ 13 ]. The ADO rates of PGD for monogenic diseases have been calculated in preclinical work-up and clinical PGD cycles in our center and the ADO rates remained at a low level in our clinical practice reported by our group [ 13 , 15 , 16 , 20 , 21 ]. During a 3-year period (January 2009 to December 2012), we analyzed and detected mutations immediately after single blastomere was lysed without MDA for preimplantation genetic diagnosis of α- and β-thalassemia in our Reproductive Medicine Center.…”

Section: Discussionmentioning

confidence: 99%

Clinical Considerations of Preimplantation Genetic Diagnosis for Monogenic Diseases

Wang

et al. 2015

PLoS ONE

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PurposeThe aim of this study was to explore factors contribute to the success of PGD cycles for monogenic diseases.MethodsDuring a 3-year period (January 2009 to December 2012), 184 consecutive ICSI-PGD cycles for monogenic diseases reaching the ovum pick-up and fresh embryo-transfer stage performed at the Reproductive Medicine Center of The First Affiliated Hospital Of Sun Yat-sen University were evaluated.ResultsICSI was performed on 2206 metaphase II oocytes, and normal fertilization and cleavage rates were 83.4% (1840/2206) and 96.2% (1770/1840), respectively. In the present study, 60.5% (181/299) of day 3 good-quality embryos developed into good-quality embryos on day 4 after biopsy. Collectively, 42.9% clinical pregnancy rate (79/184) and 28.5% implantation rate (111/389) were presented. In the adjusted linear regression model, the only two significant factors affecting the number of genetically unaffected embryos were the number of biopsied embryos (coefficient: 0.390, 95%CI 0.317–0.463, P = 0.000) and basal FSH level (coefficient: 0.198, 95%CI 0.031–0.365, P = 0.021). In the adjusted binary logistic regression model, the only two significant factors affecting pregnancy outcome were the number of genetically available transferable embryos after PGD (adjusted OR 1.345, 95% CI 1.148–1.575, P = 0.000) and number of oocyte retrieved (adjusted OR 0.934, 95% CI 0.877–0.994, P = 0.031).ConclusionThere should be at least four biopsied embryos to obtain at least one unaffected embryos in a PGD system for patients with single gene disorder and under the condition of basal FSH level smaller than 8.0mmol/L. Moreover, if only a low number (< 4) of biopsied embryos are available on day 3, the chance of unaffected embryos for transfer was small, with poor outcome.

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“…Since 1998, an increasing number of couples have delivered thalassemia-free babies through PGT-M [ 6 , 7 ]. Several approaches have been successfully used to test for thalassemia in PGT-M, including polymerase chain reaction (PCR)-based detection [ 8 – 10 ] and short tandem repeat (STR) haplotyping [ 11 , 12 ]. However, these approaches are labor intensive and are restricted by the adverse influence of allele dropouts (ADOs) and limited STR loci.…”

Section: Introductionmentioning

confidence: 99%

Development of preimplantation genetic testing for monogenic reference materials using next-generation sequencing

Zhao,

Song,

Huang

et al. 2024

BMC Med Genomics

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Objective Preimplantation genetic testing for monogenic disorders (PGT-M) has been used for over 20 years to detect many serious genetic conditions. However, there is still a lack of reference materials (RMs) to validate the test performance during the development and quality control of PGT-M. Method Sixteen thalassemia cell lines from four thalassemia families were selected to establish the RMs. Each family consisted of parents with heterozygous mutations for α- and/or β-thalassemia and two children, at least one of whom carried a homozygous thalassemia mutation (proband). The RM panel consisted of 12 DNA samples (parents and probands in 4 families) and 4 simulated embryos (cell lines constructed from blood samples from the four nonproband children). Four accredited genetics laboratories that offer verification of thalassemia samples were invited to evaluate the performance of the RM panel. Furthermore, the stability of the RMs was determined by testing after freeze‒thaw cycles and long-term storage. Results PGT-M reference materials containing 12 genome DNA (gDNA) reference materials and 4 simulated embryo reference materials for thalassemia testing were successfully established. Next-generation sequencing was performed on the samples. The genotypes and haplotypes of all 16 PGT-M reference materials were concordant across the four labs, which used various testing workflows. These well-characterized PGT-M reference materials retained their stability even after 3 years of storage. Conclusion The establishment of PGT-M reference materials for thalassemia will help with the standardization and accuracy of PGT-M in clinical use.

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The application of modified multiple displacement amplification combined with short tandem repeats polymorphism in 23 preimplantation genetic diagnosis cycles

Cited by 3 publications

References 0 publications

Preimplantation genetic diagnosis of X-linked diseases examined by indirect linkage analysis

Preimplantation genetic diagnosis of X-linked diseases examined by indirect linkage analysis

Clinical Considerations of Preimplantation Genetic Diagnosis for Monogenic Diseases

Development of preimplantation genetic testing for monogenic reference materials using next-generation sequencing

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