1. Prenatal Diagnosis and Genetic Counselling in Turner Syndrome: Case Report and Literature Review.
- Author
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Tudor, Viorica, Velicu, Octavia, Mitran, Mihai, Bratila, Elvira, and Severin, Emilia
- Subjects
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TURNER'S syndrome , *MOSAICISM , *DOWN syndrome - Abstract
Introduction: Turner Syndrome is the most frequent sexual aneuploidy which affects feminine fetuses, and is represented by a total or partial X monosomy, with or without cellular mosaicism. The wide range of differences between mortality and morbidity corresponding to different Turner karyotypes, sustain the high need for a prenatal diagnosis and an adequate genetic counselling. Material and method: We present the case of a IIG IP, 23 years old, with a combined test presenting high risk for Down Syndrome (1:45), Panorama NIPT with a result of high risk for an aneuploidy, with no pathology seen on first trimester fetal ultrasound. The certainty diagnosis came after the analysis of the amniotic liquid, Turner syndrome karyotype (mos 45,X/46,X,i(X)(q10). The article also presents a review of the latest international literature on the subject. Conclusions: The main method for diagnosing Turner syndrome antenatally is represented by characteristic fetal ultrasound findings. Nonetheless, modern screening and diagnosis methods should not be neglected. An adequate and informed genetic counselling, based on the karyotype can help lower the abortion rates and raise the life quality for Turner syndrome patients. [ABSTRACT FROM AUTHOR]
- Published
- 2018