First pregnancies after preconception diagnosis of translocations of maternal origin

Fertility and Sterility
S MunnéJ Cohen

Abstract

To develop an approach to preimplantation diagnosis of translocations that would not require the use of specific DNA probes for each translocation type. Retrospective analysis. Clinic. Two patients with 45XX,der(13;14)(q10;q10) karyotypes and one patient with a 46XX,t(4;14)(p15;q24) karyotype. Based on the observation that first polar body chromosomes remain at the metaphase stage for a few hours after oocyte retrieval, fluorescence in situ hybridization with chromosome-painting probes was used to perform preconception genetic diagnosis of translocation of maternal origin. Oocyte FISH analysis. A total of 31 mature oocytes were produced, and results were obtained in 23 first polar bodies. After IVF-ET, all three patients became pregnant, preconception diagnoses being confirmed by prenatal diagnosis or birth. Preconception diagnosis of translocations may reduce significantly the risk of chromosomally unbalanced offspring and pregnancy loss. This method is simpler than previous approaches because the need to develop specific DNA probes for each translocation type is avoided.

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Citations

Feb 8, 2000·Prenatal Diagnosis·J C Harper, D Wells
Nov 15, 2011·Journal of Assisted Reproduction and Genetics·Eun Mi ChangSung Han Shim
Feb 18, 2004·Fertility and Sterility·Mayumi Sugiura-OgasawaraKaoru Suzumori
Jun 17, 2000·Fertility and Sterility·S MunnéJ Cohen
Jan 14, 2003·Fertility and Sterility·Susan PickeringUNKNOWN Preimplantation Genetic Diagnosis Study Group
Jun 14, 2002·Journal of Reproductive Immunology·Josep EgozcueF Vidal
Jun 1, 2001·European Journal of Obstetrics, Gynecology, and Reproductive Biology·Y MénézoA Veiga
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