Variant haplophasing by long-read sequencing: a new approach to preimplantation genetic testing workups
نویسندگان
چکیده
ObjectiveTo apply long-read, third-generation sequencing as a part of general workup strategy for performing structural rearrangement (PGT-SR) and monogenic disease (PGT-M) embryo testing.DesignProspective study.SettingIn vitro fertilization unit.Patient(s)Couples presenting PGT-SR (n = 15) PGT-M 2).Intervention(s)Blastocyst biopsy with molecular testing translocation breakpoints or mutations (targets).Main Outcome Measure(s)Detailed, parental-phased, single-nucleotide polymorphism (SNP) profiles around targets selection informative polymorphic markers to simplify facilitate clinical preimplantation genetic (PGT) designs that enable discrimination between carrier noncarrier embryos.Result(s)High definition chromosome together closely phased was achieved all 15 couples PGT-SR. Similarly, the two PGT-M, tightly linked were also simply identified. Three translocations t(1;17)(q21;p13), t(3;13)(p25;q21.2), t(12;13)(q23;q22) proceeded PGT-SR, requesting preferential identification embryos transfer. Following set SNPs breakpoints, we successfully performed tests, resulting in ongoing pregnancies fetus couples. use tests based on parental mutations, one couple maple syrup urine disease, an pregnancy disease-free fetus.Conclusion(s)For contemplating PGT, variant haplophasing target reduces process by enabling rapid patient-specific test design. To testing. Prospective study. In unit. Couples 2). Blastocyst (targets). Detailed, embryos. High fetus. For
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15 صفحه اولPreimplantation Genetic Testing
PLEASE NOTE: Contracts exclude from coverage, among other things, services or procedures that are considered investigational or cosmetic. Providers may bill members for services or procedures that are considered investigational or cosmetic. Providers are encouraged to inform members before rendering such services that the members are likely to be financially responsible for the cost of these se...
متن کاملPreimplantation Genetic Testing
Preimplantation genetic testing (PGT) involves analysis of biopsied cells as part of an assisted reproductive procedure. It is generally considered to be divided into 2 categories. Preimplantation genetic diagnosis (PGD) is used to detect a specific inherited disorder and aims to prevent the birth of affected children in couples at high risk of transmitting a disorder. Preimplantation genetic s...
متن کاملPreimplantation Genetic Testing
PLEASE NOTE: Contracts exclude from coverage, among other things, services or procedures that are considered investigational or cosmetic. Providers may bill members for services or procedures that are considered investigational or cosmetic. Providers are encouraged to inform members before rendering such services that the members are likely to be financially responsible for the cost of these se...
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ژورنال
عنوان ژورنال: Fertility and Sterility
سال: 2021
ISSN: ['0015-0282', '1556-5653']
DOI: https://doi.org/10.1016/j.fertnstert.2021.04.012