Birth of healthy neonate following preimplantation genetic diagnosis in a mother with mosaic Turner syndrome. Case report and review of the literature
DOI:
https://doi.org/10.18597/rcog.3331Keywords:
Síndrome de Turner, diagnóstico preimplantación, reserva ovárica, preservación de la fertilidadAbstract
Objectives: To report the case of a patient with mosaic Turner 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 Turner syndrome. Materials and methods: A case of a 27 year-old woman diagnosed with mosaic Turner syndrome and secondary altered ovarian reserve, seen in a referral center for infertility management in Medellín, Colombia. The patient underwent in vitro fertilization followed by pre-implantation genetic testing to prevent transmission of Turner 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 Turner 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 Turner 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. Conclusion: Patients with mosaic Turner syndrome could benefit from preimplantation biopsy and genetic analysis to prevent transmission of the genetic defect to their progeny.
Author Biographies
Walter Osorio-Ramírez, Instituto de Fertilidad Humana - InSer
Ginecólogo Especialista en Medicina Reproductiva
Médico especialista en Obstetricia y Ginecología egresado de la Universidad de Antioquia.
Realizó sus estudios de Medicina Reproductiva obteniendo el título de Especialista en Reproducción Humana en el Instituto de Fertilidad Humana InSer Medellín. Como parte de su preparación realizó entrenamientos en la Clínica Dexeus Mujer Barcelona y en el Instituto Valenciano de Infertilidad – IVI Barcelona.
En su trayectoria como especialista trabajó como Ginecobstetra en la Clínica El Rosario de Medellín y actualmente se desempeña como Médico Especialista en Reproducción Humana en la clinica InSer
Juan Luis Giraldo-Moreno, Instituto de Fertilidad Humana - InSer
Instituto de Fertilidad Humana - InSer, Medellín, Colombia.
Diana Patricia Gómez-Cortés, InSer - Instituto de Fertilidad Humana
Instituto de Fertilidad Humana - InSer, Medellín, Colombia.
David Olive, Wisconsin Fertility Institute
Wisconsin Fertility Institute, Middleton, Wisconsin, USA.
John Fidel Cano-Franco, Instituto de Fertilidad Humana - InSer
Instituto de Fertilidad Humana - InSer, Medellín, Colombia.
Sergio Tamayo-Hussein, Instituto de Fertilidad Humana - InSer
Instituto de Fertilidad Humana - InSer, Medellín, Colombia.
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