NHẬN XÉT KẾT QUẢ CHẨN ĐOÁN TRƯỚC SINH HỘI CHỨNG TURNER TẠI BỆNH VIỆN PHỤ SẢN HÀ NỘI

Abstract

Background & Objective: Turner syndrome  is the most common sex chromosome abnormality in female (1 in 2500 female live births) and is caused by a complete or partial X monosomy in some or all cells. Turner syndrome  is characterized by short stature, web neck anomaly, and gonadal dysgenesis. The study aims to illustrate the chromosomal abnormalities in fetuses diagnosed with Turner syndrome and assess the correlations between karyotyping results and prenatal ultrasound findings. Methods: A retrospective descriptive study was conducted on 36 fetuses with Turner syndrome by collecting the karyotype (the G-banding) from amniotic fluid, and analyzed the correlation between these karyotyping results and the respective prenatal ultrasound findings of the fetuses in the first and second trimesters of pregnancy. Results: Among the 36 Turner syndrome fetuses, 38.9% of the cases were non-mosaic 45,X, 27.8% were mosaic 45,X with 46,XX or 47,XXX cell lines; 16.7% were mosaic 45,X with 46,XY cell lines; 13.9% had structural abnormalities of the X chromosome; and 2.7% had unbalanced translocations between the X chromosome and an autosome The non-mosaic 45,X cases showed more abnormal ultrasound findings and more severe phenotypic abnormalities compared to mosaic Turner Syndrome or those with structural chromosomal abberations. Conclusions: The current data suggests the increased pre- and post-natal prognostics accuracy for fetuses with Turner syndrome through the combined use of obstetric ultrasonography and cytogenetic analyses