Blastocyst preimplantation genetic diagnosis (PGD) of a mitochondrial DNA disorder
Objective To evaluate the utility of trophectoderm biopsy for preimplantation genetic diagnosis (PGD) of mitochondrial (mt) DNA mutation load. Design A PGD case and analysis of blastocyst mosaicism. Setting Academic center for reproductive medicine. Patient(s) A 30-year-old carrier of 35% 3243A>G...
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Published in | Fertility and sterility Vol. 98; no. 5; pp. 1236 - 1240 |
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Main Authors | , , , , , |
Format | Journal Article |
Language | English |
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Elsevier Inc
01.11.2012
Elsevier |
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Abstract | Objective To evaluate the utility of trophectoderm biopsy for preimplantation genetic diagnosis (PGD) of mitochondrial (mt) DNA mutation load. Design A PGD case and analysis of blastocyst mosaicism. Setting Academic center for reproductive medicine. Patient(s) A 30-year-old carrier of 35% 3243A>G mtDNA mutation load with a daughter affected by mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome. Intervention(s) Blastocyst biopsy for PGD of mutation load and gender. Main Outcome Measure(s) Variation in mutation load within and among embryos, and newborn mutation load after PGD-based selection. Result(s) Oocytes and embryos were found to possess a variety of 3243A>G mutation loads from 9% to 90% in oocytes and 7% to 91% in embryos, demonstrating that PGD would be a relevant procedure. Highly consistent results were obtained within multiple biopsies of both cleavage- and blastocyst-stage embryos. Importantly, mutation loads observed in trophectoderm were predictive of the inner cell mass ( r2 = 0.97). Transfer of a male embryo, predicted to possess 12% mutation load by analysis of a trophectoderm biopsy, resulted in the delivery of a boy with tissue-specific mutation loads ranging from undetectable to 15%. Conclusion(s) This study represents the first successful clinical application of PGD to reduce the transgenerational risk of transmitting an mtDNA disorder and supports the applicability of blastocyst trophectoderm PGD for carriers of mtDNA mutations attempting reproduction. |
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AbstractList | To evaluate the utility of trophectoderm biopsy for preimplantation genetic diagnosis (PGD) of mitochondrial (mt) DNA mutation load.
A PGD case and analysis of blastocyst mosaicism.
Academic center for reproductive medicine.
A 30-year-old carrier of 35% 3243A>G mtDNA mutation load with a daughter affected by mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome.
Blastocyst biopsy for PGD of mutation load and gender.
Variation in mutation load within and among embryos, and newborn mutation load after PGD-based selection.
Oocytes and embryos were found to possess a variety of 3243A>G mutation loads from 9% to 90% in oocytes and 7% to 91% in embryos, demonstrating that PGD would be a relevant procedure. Highly consistent results were obtained within multiple biopsies of both cleavage- and blastocyst-stage embryos. Importantly, mutation loads observed in trophectoderm were predictive of the inner cell mass (r(2) = 0.97). Transfer of a male embryo, predicted to possess 12% mutation load by analysis of a trophectoderm biopsy, resulted in the delivery of a boy with tissue-specific mutation loads ranging from undetectable to 15%.
This study represents the first successful clinical application of PGD to reduce the transgenerational risk of transmitting an mtDNA disorder and supports the applicability of blastocyst trophectoderm PGD for carriers of mtDNA mutations attempting reproduction. OBJECTIVETo evaluate the utility of trophectoderm biopsy for preimplantation genetic diagnosis (PGD) of mitochondrial (mt) DNA mutation load.DESIGNA PGD case and analysis of blastocyst mosaicism.SETTINGAcademic center for reproductive medicine.PATIENT(S)A 30-year-old carrier of 35% 3243A>G mtDNA mutation load with a daughter affected by mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome.INTERVENTION(S)Blastocyst biopsy for PGD of mutation load and gender.MAIN OUTCOME MEASURE(S)Variation in mutation load within and among embryos, and newborn mutation load after PGD-based selection.RESULT(S)Oocytes and embryos were found to possess a variety of 3243A>G mutation loads from 9% to 90% in oocytes and 7% to 91% in embryos, demonstrating that PGD would be a relevant procedure. Highly consistent results were obtained within multiple biopsies of both cleavage- and blastocyst-stage embryos. Importantly, mutation loads observed in trophectoderm were predictive of the inner cell mass (r(2) = 0.97). Transfer of a male embryo, predicted to possess 12% mutation load by analysis of a trophectoderm biopsy, resulted in the delivery of a boy with tissue-specific mutation loads ranging from undetectable to 15%.CONCLUSION(S)This study represents the first successful clinical application of PGD to reduce the transgenerational risk of transmitting an mtDNA disorder and supports the applicability of blastocyst trophectoderm PGD for carriers of mtDNA mutations attempting reproduction. Objective To evaluate the utility of trophectoderm biopsy for preimplantation genetic diagnosis (PGD) of mitochondrial (mt) DNA mutation load. Design A PGD case and analysis of blastocyst mosaicism. Setting Academic center for reproductive medicine. Patient(s) A 30-year-old carrier of 35% 3243A>G mtDNA mutation load with a daughter affected by mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome. Intervention(s) Blastocyst biopsy for PGD of mutation load and gender. Main Outcome Measure(s) Variation in mutation load within and among embryos, and newborn mutation load after PGD-based selection. Result(s) Oocytes and embryos were found to possess a variety of 3243A>G mutation loads from 9% to 90% in oocytes and 7% to 91% in embryos, demonstrating that PGD would be a relevant procedure. Highly consistent results were obtained within multiple biopsies of both cleavage- and blastocyst-stage embryos. Importantly, mutation loads observed in trophectoderm were predictive of the inner cell mass ( r2 = 0.97). Transfer of a male embryo, predicted to possess 12% mutation load by analysis of a trophectoderm biopsy, resulted in the delivery of a boy with tissue-specific mutation loads ranging from undetectable to 15%. Conclusion(s) This study represents the first successful clinical application of PGD to reduce the transgenerational risk of transmitting an mtDNA disorder and supports the applicability of blastocyst trophectoderm PGD for carriers of mtDNA mutations attempting reproduction. OBJECTIVE: To evaluate the utility of trophectoderm biopsy for preimplantation genetic diagnosis (PGD) of mitochondrial (mt) DNA mutation load. DESIGN: A PGD case and analysis of blastocyst mosaicism. SETTING: Academic center for reproductive medicine. PATIENT(S): A 30-year-old carrier of 35% 3243A>G mtDNA mutation load with a daughter affected by mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome. INTERVENTION(S): Blastocyst biopsy for PGD of mutation load and gender. MAIN OUTCOME MEASURE(S): Variation in mutation load within and among embryos, and newborn mutation load after PGD-based selection. RESULT(S): Oocytes and embryos were found to possess a variety of 3243A>G mutation loads from 9% to 90% in oocytes and 7% to 91% in embryos, demonstrating that PGD would be a relevant procedure. Highly consistent results were obtained within multiple biopsies of both cleavage- and blastocyst-stage embryos. Importantly, mutation loads observed in trophectoderm were predictive of the inner cell mass (r² = 0.97). Transfer of a male embryo, predicted to possess 12% mutation load by analysis of a trophectoderm biopsy, resulted in the delivery of a boy with tissue-specific mutation loads ranging from undetectable to 15%. CONCLUSION(S): This study represents the first successful clinical application of PGD to reduce the transgenerational risk of transmitting an mtDNA disorder and supports the applicability of blastocyst trophectoderm PGD for carriers of mtDNA mutations attempting reproduction. To evaluate the utility of trophectoderm biopsy for preimplantation genetic diagnosis (PGD) of mitochondrial (mt) DNA mutation load. A PGD case and analysis of blastocyst mosaicism. Academic center for reproductive medicine. A 30-year-old carrier of 35% 3243A>G mtDNA mutation load with a daughter affected by mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome. Blastocyst biopsy for PGD of mutation load and gender. Variation in mutation load within and among embryos, and newborn mutation load after PGD-based selection. Oocytes and embryos were found to possess a variety of 3243A>G mutation loads from 9% to 90% in oocytes and 7% to 91% in embryos, demonstrating that PGD would be a relevant procedure. Highly consistent results were obtained within multiple biopsies of both cleavage- and blastocyst-stage embryos. Importantly, mutation loads observed in trophectoderm were predictive of the inner cell mass (r2 = 0.97). Transfer of a male embryo, predicted to possess 12% mutation load by analysis of a trophectoderm biopsy, resulted in the delivery of a boy with tissue-specific mutation loads ranging from undetectable to 15%. This study represents the first successful clinical application of PGD to reduce the transgenerational risk of transmitting an mtDNA disorder and supports the applicability of blastocyst trophectoderm PGD for carriers of mtDNA mutations attempting reproduction. |
Author | Levy, Brynn, Ph.D Ferry, Kathleen M., B.S Campos, Jessyca, M.S Tao, Xin, M.S Scott, Richard T., M.D Treff, Nathan R., Ph.D |
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Keywords | Mitochondrial DNA MELAS preimplantation genetic diagnosis mutation load Gynecology Blastocyst Metabolic diseases Enzymopathy Obstetrics Mitochondrial disorder Genetic disease Preimplantation diagnosis Genetics Mutation |
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Snippet | Objective To evaluate the utility of trophectoderm biopsy for preimplantation genetic diagnosis (PGD) of mitochondrial (mt) DNA mutation load. Design A PGD... To evaluate the utility of trophectoderm biopsy for preimplantation genetic diagnosis (PGD) of mitochondrial (mt) DNA mutation load. A PGD case and analysis of... OBJECTIVE: To evaluate the utility of trophectoderm biopsy for preimplantation genetic diagnosis (PGD) of mitochondrial (mt) DNA mutation load. DESIGN: A PGD... OBJECTIVETo evaluate the utility of trophectoderm biopsy for preimplantation genetic diagnosis (PGD) of mitochondrial (mt) DNA mutation load.DESIGNA PGD case... |
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SubjectTerms | acidosis Adult Biological and medical sciences Biopsy blastocyst Blastocyst - chemistry boys Child, Preschool DNA, Mitochondrial - analysis Embryo Transfer Errors of metabolism Female Fertilization in Vitro gender Genetic Predisposition to Disease Genetic Testing Gynecology. Andrology. Obstetrics Heredity Humans Infant, Newborn Internal Medicine Lymphocytes - chemistry Male Medical sciences medicine MELAS MELAS Syndrome - diagnosis MELAS Syndrome - genetics Metabolic diseases Miscellaneous hereditary metabolic disorders Mitochondrial DNA Mosaicism Mutation mutation load neonates Obstetrics and Gynecology oocytes Oocytes - chemistry patients Predictive Value of Tests Pregnancy Preimplantation Diagnosis - methods preimplantation genetic diagnosis reproduction risk Sex Determination Analysis |
Title | Blastocyst preimplantation genetic diagnosis (PGD) of a mitochondrial DNA disorder |
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