Mapping allele with resolved carrier status of Robertsonian and reciprocal translocation in human preimplantation embryos.
نویسندگان
چکیده
Reciprocal translocations (RecT) and Robertsonian translocations (RobT) are among the most common chromosomal abnormalities that cause infertility and birth defects. Preimplantation genetic testing for aneuploidy using comprehensive chromosome screening for in vitro fertilization enables embryo selection with balanced chromosomal ploidy; however, it is normally unable to determine whether an embryo is a translocation carrier. Here we report a method named "Mapping Allele with Resolved Carrier Status" (MaReCs), which enables chromosomal ploidy screening and resolution of the translocation carrier status of the same embryo. We performed MaReCs on 108 embryos, of which 96 were from 13 RecT carriers and 12 were from three RobT carriers. Thirteen of the sixteen patients had at least one diploid embryo. We have confirmed the accuracy of our carrier status determination in amniotic fluid karyotyping of seven cases as well as in the live birth we have thus far. Therefore, MaReCs accurately enables the selection of translocation-free embryos from patients carrying chromosomal translocations. We expect MaReCs will help reduce the propagation of RecT/RobT in the human population.
منابع مشابه
Possible interchromosomal effect in embryos generated by gametes from translocation carriers.
BACKGROUND The incidence of abnormal pregnancies in carriers of balanced translocations depends strictly on the chromosomes involved in the translocations. The aim of this study was to verify whether conventional aneuploidy screening could be advantageously combined with preimplantation genetic diagnosis (PGD) for translocations. METHODS Twenty-eight carriers of Robertsonian and reciprocal tr...
متن کاملThe Survey of Double Robertsonian Translocation 13q; 14q in the Pedigree of 44; XX Woman: A Case Report
Robertsonian translocations (RBT) are associated with an increased risk of aneuploidy. Single RBT carriers are the most common balanced rearrangement among the carrier couples with the history of spontaneous abortion. However, double Robertsonian translocations (DRBT), in which two balanced RBT occur simultaneously, are an extremely rare condition. A 9-year-old mentally normal girl with mu...
متن کاملجابهجایی دو طرفه متعادل کروموزوم‌های 5 و 18: گزارش موردی
Background: A balanced reciprocal translocation is a structural abnormality, which at least consist of breakage of two non-homologous chromosomes along with pieces exchange and form quadrivalant structure that can produce unbalanced chromosomes during meiosis I and result in a fetus abortion. The aim of the present study is to offer using preimplantation genetic diagnosis (PGD) 24sure array, wh...
متن کاملChromosome Segregation Analysis in Human Embryos Obtained from Couples Involving Male Carriers of Reciprocal or Robertsonian Translocation
The objective of this study was to investigate the frequency and type of chromosome segregation patterns in cleavage stage embryos obtained from male carriers of Robertsonian (ROB) and reciprocal (REC) translocations undergoing preimplantation genetic diagnosis (PGD) at our reproductive center. We used FISH to analyze chromosome segregation in 308 day 3 cleavage stage embryos obtained from 26 p...
متن کاملOutcome of preimplantation genetic diagnosis of translocations.
OBJECTIVE To review 35 cases of preimplantation genetic diagnosis (PGD) of translocations with several methods, including telomeric probes. DESIGN Retrospective study. SETTING Clinical IVF laboratory. PATIENT(S) Thirty-five couples with one partner carrying a chromosomal translocation. INTERVENTION(S) PGD of translocation after polar-body or embryo biopsy. MAIN OUTCOME MEASURE(S) Preg...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Proceedings of the National Academy of Sciences of the United States of America
دوره 114 41 شماره
صفحات -
تاریخ انتشار 2017