मानव आनुवंशिकी एवं भ्रूणविज्ञान

Introduction: Pregnancy in mosaic Turner Syndrome (TS) occurs relatively rarely. Phenotypes of mosaic TS and fertility outcomes may vary according to the degree of mosaicism.

Objective: Our study aimed to report the occurrence of spontaneous pregnancy in a case of mosaic TS and report recent recommendations in the matter of genetic counselling in that entity.

Results: A 31-year-old patient was referred for cytogenetic testing after three an embryonic pregnancies. She was measured at 155 cm and weighed 57 kg. Her menarche occurred at the age of 14 and her menstrual cycles were regular. She presented high-level anti-thyroperoxydase antibodies (600 IU/ml) and normal cardiologic evaluation (echocardiography and electrocardiogram). The karyotype revealed a mosaic turner syndrome, mos 45, X /46, XX. She presented after that evaluation with a spontaneous pregnancy with a negative blood screening for fetal aneuploidy at 14 weeks of pregnancy. Genetic counselling was performed and included options for future fertility, such as IVF, oocyte cryopreservation and Preimplantation Genetic Diagnosis (PGD). A healthy male infant was born at 39 weeks of gestation after caesarean surgery and precautious cardiac monitoring was performed during pregnancy.

Conclusion: Recurrent miscarriages and subtle short stature were the specific features of our clinical case. Genetic and fertility counselling were crucial for an adapted follow-up during the pregnancy and the establishment of strategies concerning future conceptions.

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