Prenatal diagnosis and genetic analysis of a female fetus with 46, XX and positive SRY gene / 中华围产医学杂志

We report a case of a pregnant woman with 46,XX karyotype and positive sex-determining region on the Y chromosome ( SRY) gene and her female fetus. Ultrasound examination at 12 +6 gestational weeks indicated a thickened fetal nuchal translucency, and 46, XX with a positive SRY gene was detected in the fetus through quantitative fluorescent-polymerase chain reaction and amniotic fluid karyotype. However, the ultrasound showed that the gender of the fetus was female, which was inconsistent with the phenotype of male syndrome with 46, XX combining positive SRY gene. The fluorescent in situ hybridization (FISH) revealed that the short arm of the Y chromosome translocated to the long arm of one of the X chromosomes, namely Yp11.3-Xq28. In addition, a copy number variation at Yp11.31p11.2 copy (about 1 MB) was found by chromosomal microarray analysis, which validated the result of FISH and was consistent with the mother. After genetic counseling, the parents chose to continue the pregnancy to full term, and no abnormalities were found in the infant during the follow-up.

The Identification of Differentially Expressed Proteins in Maternal Serum of Fetuses with Congenital Heart Defects by Using the iTRAQ Technology / 中国医科大学学报

Objective To screen for serum protein differentially expressed between women whose fetuses had congenital heart defects(CHD) and women who had normal fetuses. Methods Serum samples were collected from pregnant women whose fetuses had CHD and those whose fe?tuses had no CHD,including a CHD group of 40 women and a control group of 10 women. The CHD group included 4 subgroups as follows:tetralo?gy of Fallot,ventricular septal defects,persistent truncus arteriosus,and a mixture of relatively rare types of CHD(n=10 each). Samples in the same group were pooled to obtain equal amounts of proteins ,and the iTRAQ proteomic approach was used to identify and quantify the proteins dif?ferentially expressed among these groups. Results We successfully identified 606 proteins,among which 47 showed at least a 1.5?fold difference between the CHD and control groups. Among the 47 proteins,23 and 24 were upregulated and downregulated,respectively. Conclusion Several proteins associated with CHD could be identified by using the iTRAQ proteomic approach ,and various proteins were involved in the pathogenesis of CHD in this study.