Successful pregnancy with preimplantation genetic diagnosis in a woman with mosaic Turner syndrome.

Objective: To determine the efficacy of the preimplantation cytogenetic analysis of the embryos obtained from patient with mosaic Turner syndrome before an IVF program.

Design: Prospective cytogenetic analysis.

Setting: University-based tertiary medical center.

Patient(s): A 29 year-old female, a partner in a couple with male factor infertility, was diagnosed with mosaic Turner syndrome with a 45,X [17]/46,XX [13] karyotype.

Intervention(s): Preimplantation genetic diagnosis was performed on four blastomeres obtained from four different embryos by fluorescence in situ hybridization probes specific to chromosomes X, Y, 13, 18, 21 in an intracytoplasmic sperm injection cycle.

Main Outcome Measure(s): Blastomeres with normal signals.

Result(s): Two blastomeres detected as normal were transferred and pregnancy was achieved.

Conclusion(s): Preimplantation Genetic Diagnose should be considered in the infertility treatment of the patient with mosaic Turner Syndrome.