[Prenatal diagnosis of a fetus with 46,XX (SRY positive) male syndrome].

OBJECTIVE: To carry out genetic testing for a XXY fetus suggested by non-invasive prenatal testing (NIPT). METHODS: G-banding karyotyping, fluorescence in situ hybridization (FISH) and chromosomal microarray analysis (CMA) were performed on amniocytes from the fetus. The genitalia of the fetus was also examined by Doppler ultrasonography. The result was verified with peripheral blood samples from its parents and a brother. RESULTS: The fetus was found to have a 46,XX karyotype. CMA showed presence of sequences from Yp11.2 (2.635 Mb) and Yp11.31p11.2 (3.706 Mb). FISH assay suggested that the SRY fragment on Yp has translocated to Xpter. No karyotypic or pathogenic CNVs was detected in its parents and brother. The fetus was ultimately diagnosed with 46,XX (SRY positive) male syndrome. CONCLUSION: The combination of G-banding karyotyping, FISH, and CMA is of great significance for attaining accurate prenatal diagnosis for this fetus.

[The value of non-invasive prenatal testing for the identification of fetal chromosome aneuploidies].

OBJECTIVE: To assess the value of non-invasive prenatal testing (NIPT) for the identification of fetal chromosomal aneuploidies. METHODS: For 9470 pregnant women with a moderate-to-high risk by conventional serological screening or advanced maternal age, peripheral venous blood samples were collected and, following extraction of free fetal DNA, subjected to large-scale parallel sequencing on a Illumina Hiseq2000 platform. Those with a high risk by NIPT were validated by invasive prenatal diagnosis. RESULTS: Out of the 9470 samples, 194 cases (2.0%) were positive by NIPT testing. These included 50 trisomy 21, 11 trisomy 18, 17 trisomy 13, 44 other autosomal aneuploidies, 55 sex chromosomal aneuploidies, and 17 chromosomal copy number variations. As validated by amniotic fluid or umbilical blood chromosomal karyotyping analysis, NIPT has a false positive rate of 2.0%, 18.2%, 41.2%, 97.7%, 81.8%, 94.1%, respectively. The test has a sensitivity of 100% and a specificity of 98.79%. CONCLUSION: For common chromosomal aneuploidies such as trisomy 21 and trisomy 18, NIPT has a good sensitivity and specificity, therefore has good value for clinical application.

[Application of combined chromosomal karyotyping and BACs-on-Beads assay for the prenatal diagnosis of high-risk gravida from Ningbo].

OBJECTIVE: To assess the value of combined chromosomal karyotyping and BACs-on-Beads(BoBs) assay for the prenatal diagnosis of high risk gravida from Ningbo. METHODS: For 2779 women, results of conventional karyotyping analysis and BoBs assay were compared. RESULTS: For common aneuploidies involving chromosomes 13, 18, 21, X and Y, the two methods have yielded a concordance rate of 98.78%. Eight cases detected with microduplication by BoBs were missed by karyotyping analysis. On the other hand, 17 structural chromosomal abnormalities, 10 chimeras and 1 triploidy detected by karyotyping analysis were missed by BoBs. CONCLUSION: The BoBs technology has featured high throughput and rapidity, and can detect 9 microdeletion syndromes, which can improve the quality of prenatal diagnosis and provide an ideal complementary for conventional chromosomal karyotyping.

Insights into the interaction mechanism of acid phosphatase from Lateolabrax japonicus livers and rosmarinic acid using multispectroscopy and molecular docking.

Acid phosphatase (ACP) is a key enzyme that hydrolyzes inosinic acid. The mechanisms underlying the interaction between rosmarinic acid (RA) and ACP and the inhibition of the enzyme were investigated using inhibition kinetics, UV-visible and fluorescence spectroscopy, circular dichroism, and molecular docking. The results showed that RA was a reversible inhibitor of ACP and that the inhibition mechanism was uncompetitive. The ACP fluorescence was quenched by RA, and the quenching mode was static. The interaction of ACP with RA was driven by H bonds and van der Waals forces. The addition of RA increased the α-helix content and decreased the ß-sheet, ß-turn, and random coil contents in ACP, thereby altering the secondary structure of the enzyme. This study enriched our understanding of inhibitory and interaction mechanisms involving ACP and RA.

[Clinical research of HPV DNA detection and HPV RNA detection in single time].

OBJECTIVE: To research the application of the single time detection of HPV E6/E7 mRNA and HC2-HPV-DNA in cervical screening project. METHODS: We detected both HPV E6/E7 mRNA and HC2-HPV-DNA of each sample which collected from 130 cervical disease patients' cervix during Jan. 2008 and July. 2009. TCT results were taken as standard to evaluate the diagnostic accuracy of the above two test methods in detecting high-grade cervical disease. RESULTS: 82.3% (107/130)women were confirmed to infect HPV by HC2-HPV-DNA detection, and 40.0% (52/130) women were confirmed to infect HPV by HPV E6/E7 mRNA detection, there was no significant difference between the two results (chi2 = 24.5, P < 0.05). The sensitivity, specificity, positive predictive value, negative predictive value of HC2-HPV-DNA detection were 90.1%, 22.1%, 37.4% and 82.6%, respectively. The sensitivity, specificity, positive predictive value, negative predictive value of HPV E6/E7 mRNA detection were 65.9%, 73.3%, 55.8% and 80.8%, respectively. CONCLUSION: In clinical cervical screening project of single time, the combination of HC2-HPV-DNA detection and HPV E6/E7 mRNA detection wick take on more potential value than applying each of them alone. RNA;