Recién nacido sano después de diagnóstico genético preimplantatorio en una madre con síndrome de turner mosaico. reporte de caso y revisión de la literatura

Objective To report the case of a patient with mosaic syndrome who underwent assisted reproduction treatment with preimplantation genetic testing for aneuploidy and gave birth to a healthy baby girl with normal karyotype; and to conduct a review of the literature on the usefulness of preimplantation genetic diagnosis in women with syndrome. Methods A case of a 27 year-old woman diagnosed with mosaic syndrome and secondary altered ovarian reserve, seen in a referral center for infertility management in Medellin, Colombia. The patient underwent in vitro fertilization followed by pre-implantation genetic testing to prevent transmission of syndrome to her progeny. A literature search was conducted in the Medline via PubMed, Clinical Key, OVID, Embase, Lilacs, SciELO and Oxford Journals databases using the following terms: Turner Syndrome, Mosaic Turner, Preimplantation Genetic Screening, Preimplantation Genetic Testing, Preimplantation Genetic Diagnosis, Pregnancy, Successful pregnancy. Inclusion criteria were case series and case reports, cohort studies and review articles published between January 1980 and June 2017 that included women with syndrome achieving pregnancy by means of in vitro fertilization techniques with their own oocytes and who had undergone embryo biopsy for preimplantation genetic diagnosis. The search was limited to articles in Spanish and English. Results one study met the inclusion criteria. Both in this report and in our case, patients with mosaic syndrome underwent several cycles of intracytoplasmic sperm injection (ICSI) with their own eggs, then performed embryonic biopsy for preimplantation genetic analysis using different techniques. In both cases, euploid embryos were transferred to the uterus with the subsequent birth of healthy girls with normal karyotype. Conclusions Patients with mosaic syndrome could benefit from preimplantation biopsy and genetic analysis to prevent transmission of the genetic defect to their progeny.