Abstract:
Objective To identify fetal sex chromosome abnormality in a fetus with mosaic Turner syndrome by using various prenatal diagnosis techniques.
Methods In May 2018, a 28 year-old pregnant woman was referred to the first medical center of Chinese PLA General Hospital because of a high risk of trisomy 13 suggested by Oscar test in another hospital. Multiplatform techniques including noninvasive prenatal gene detection, G-banding and fluorescence in situ hybridization (FISH) were performed to detect the abnormalities in this case.
Results Sex chromosome mosaicism (mos 45, X/46, XX) was confirmed by FISH, and G banding technique further identified the existence of two abnormal karyotypes in the fetus.
Conclusion In the prenatal diagnosis of sex chromosome abnormality, combination of multiple techniques can avoid missed detection and identify all kinds of chromosome abnormality.
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