Association between chromosome abnormities and prenatal diagnosis indicators screening in the second trimester of pregnancy.

This study aimed to explore the prenatal indicators in the second trimester of pregnancy and their association with chromosome abnormities (CA) to guide decisions toward invasive diagnostic procedures. Pregnant women who underwent prenatal screening and underwent amniocentesis in the second trimester in our Hospital between June 2017 and February 2019 were included in this retrospective cohort study. The reason for amniocentesis in prenatal screening and diagnoses was extracted from the charts. Finally, 3449 pregnant women were included. Of them, 181 were with CA confirmed by amniocentesis (i.e., the CA group), while 3268 were without CA (i.e., the non-CA group). Compared with the women in the non-CA group, those in the CA group were more likely to be older (30 [27,32] vs 29 [26,31], P < .001), had higher gestational weeks (20 [19,23] vs 19 [18,23], P = .008), an increased risk of advanced maternal age (AMA) (9.4% vs 2.2%, P < .001), had an increased risk of NIPT (IRN) (5.1% vs 1.9%, P < .001), had higher rates of a parental chromosome abnormality (PCA) (1.8% vs 0.9%, P = .002), and had increased risk of trisomy 21 (IRT21) (63.0% vs 45.3%, P < .001). AMA (OR = 4.22, 95% CI: 2.35-7.58, P < .001; AUC = 0.536), IRN (OR = 10.62, 95% CI: 6.66-16.94, P < .001; AUC = 0.589), PCA (OR = 4.77, 95% CI: 2.01-11.32, P < .001; AUC = 0.584), and IRT21 (OR = 0.67, 95% CI: 0.47-0.89, P = .008; AUC = 0.515) were independently associated with CA. AMA, IRN, IRT21, and PCA during the second trimester were independently associated with CA, but their predictive values for CA were relatively low. Combining those indicators may improve the predictive value.

[Clinical phenotype and genetic analysis of a fetus with Glutaracidemia type II C].

OBJECTIVE: To explore the clinical phenotype and genetic variants of a fetus with Glutaracidemia type II C (GA II C). METHODS: Clinical data of a 32-year-old pregnant woman and her fetus with GA II C diagnosed at the Third Affiliated Hospital of Zhengzhou University in December 2021 due to the enlargement and enhanced echo of the kidneys and oligohydramnios fluid at 17 weeks were analyzed retrospectively. Amniotic fluid sample of the fetus and peripheral blood samples of the couple were collected for whole exome sequencing (WES). Candidate variants were verified by Sanger sequencing. Copy number variation (CNV) was detected by using low-coverage whole genome sequencing (CNV-seq). RESULTS: At 18 weeks' gestation, ultrasound revealed that the fetus had enlargement and enhanced echo of the kidneys along with no echo of renal parenchymal tubular fissure and oligohydramnios. MRI at 22 weeks' gestation confirmed that both kidneys were enlarged with uniformly increased abnormal T2 signal and decreased DWI signal. The volume of both lungs was small, with slightly higher T2 signal. No CNV was detected in the fetus. WES revealed that the fetus has harbored compound heterozygous variants of the ETFDH gene, namely c.1285+1G＞A and c.343_344delTC, which were inherited from its father and mother, respectively. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were classified as pathogenic (PVS1+PM2_Supporting+PS3_Supporting; PVS1+PM2_Supporting+PM3). CONCLUSION: The c.1285+1G＞A and c.343_344delTC compound heterozygous variants of the ETFDH gene probably underlay the disease in this fetus. Type II C glutaric acidemia may manifest as bilateral kidney enlargement with enhanced echo and oligohydramnios. Discovery of the c.343_344delTC has enriched the spectrum of ETFDH gene variants.

An intractable epilepsy phenotype of ASNS novel mutation in two patients with asparagine synthetase deficiency.

BACKGROUND AND OBJECTIVE: Asparagine synthetase deficiency (ASNSD) is a rare neurometabolic disease caused by variations of the ASNS gene. It manifests as microcephaly, severe developmental delay, and spastic quadriplegia. 71% of ASNSD patients died during early infancy. We aim to investigate mutations related to intractable epilepsy in one Chinese genealogy. MATERIAL AND METHODS: Head Magnetic Resonance Imaging (MRI), whole exome sequencing (WES), and Liquid Chromatography-Mass Spectrometry (LC-MS) to help 2 patients with intractable epilepsy find the underlying mechanisms of disease. RESULTS: These two patients had a compound heterozygous mutation (c.224A > G, p.N75S and c.1612A > G, p.M538V) in the ASNS gene, of which c.1612A > G was a novel mutation. The asparagine levels in patients' plasmas were normal. In addition, they had a later onset, longer survival, and were milder than previously reported ASNSD patients. CONCLUSIONS: Two patients were diagnosed with a milder form of ASNSD. Clinically, the asparagine level in the patient's plasma cannot be used as the only basis to diagnose this disease. This study has expanded the disease phenotype spectrum of ASNSD and broadened the variation profile of the ASNS gene, which can assist in the clinical diagnosis and treatment of ASNSD patients.

Genetic diagnosis of common fetal renal abnormalities detected on prenatal ultrasound.

OBJECTIVES: This retrospective study aimed to investigate the correlations between phenotypes of fetal renal abnormalities on prenatal ultrasound and genetic aetiologies detected using chromosomal microarray analysis (CMA) and whole-exome sequencing (WES). METHODS: Fetuses with renal abnormalities were subjected to CMA and were further analysed by WES when CMA-negative. The detection rates for chromosomal abnormalities and monogenic variants among different types of isolated renal abnormalities and those with extrarenal abnormalities (non-isolated cases) were determined and compared. RESULTS: CMA detected chromosomal abnormalities in 78 of 577 fetuses (13.52%). WES detected monogenic variants in 31 of 160 fetuses (19.38%) that had non-diagnostic CMA results. In cases of isolated hyperechogenic kidney, polycystic kidney disease, and multicystic dysplastic kidney, the detection rates of copy number variants (CNVs) by CMA and monogenic variants by WES were not significantly different (p > 0.05). However, monogenic variants were more frequently detected than CNVs when kidney abnormalities were accompanied by reduced amniotic fluid (p < 0.05). Other renal abnormalities identified on prenatal ultrasound had different detection rates. CONCLUSIONS: Our findings contribute to the overall knowledge of genetic variants associated with prenatally identified renal anomalies and may aid in decision making regarding prenatal genetic testing options for affected pregnancies.

Maternal exposure to air pollution and congenital heart diseases in Henan, China: A register-based case-control study.

BACKGROUND: Association between ambient air pollution and congenital heart diseases (CHDs) remains inconclusive, and the critical exposure windows has not been well studied. OBJECTIVES: This case-control study aimed to assess the effect of ambient air pollution exposure on the risk of CHDs and the subtypes in Henan, China, and further to explore potential susceptible windows. METHODS: Daily average particulate matter with an aerodynamic diameter of ≤2.5 µm (PM2.5) and ≤10 µm (PM10), nitrogen dioxide (NO2), sulfur dioxide (SO2), carbon monoxide (CO) and ozone (O3) were collected by Chinese Air Quality Reanalysis datasets. Binary logistic regression was used to examine trimester-specific associations between per 10 µg/m3 increase in air pollutants and CHDs as well as the major subtypes. Distributed lag models incorporating logistic regression were applied to explore weekly-specific associations. RESULTS: A total of 196,069 singleton live births were included during 2013-2018, 643 CHDs were identified (3.3‰). We found that first and second trimester CO exposure increased overall CHDs risk, the adjusted odds ratio (aOR) and 95% confidence interval (CI) were 1.066 (1.010-1.125) and 1.065 (1.012-1.122). For CHDs subtypes, we observed that NO2 and CO in first trimester, PM2.5 and PM10 in the second trimester exposure were associated with the risk of atrial septal defect (ASD), the susceptible windows of air pollutants and ASD mainly occurred in the 1st- 6th gestational weeks. No positive association was observed for air pollution and tetralogy of Fallot. CONCLUSION: Our findings suggest that ambient air pollution exposure is associated with the risk of CHDs especially for ASD, and the susceptible windows generally occurred in first trimester. Further well-designed longitudinal studies are warranted to confirm our findings.

Aberrant Methylation of the SOX21-AS1 Promoter Region Promotes Gene Expression and Its Clinical Value in Cervical Cancer.

Cervical cancer is the fourth most common female cancer worldwide. Long non-coding RNAs (lncRNAs), such as SOX21-AS1, play pivotal roles in the progression and metastasis of cancer. We previously described that SOX21-AS1 was hypomethylated in cervical cancer (CC) and aimed to further explore the relationship between methylation of the SOX21-AS1 promoter and CC using clinical cervical samples. Pyrosequencing was performed to detect the methylation status of the SOX21-AS1 promoter in 33 cervical specimens. Additionally, expression levels of related genes in 43 clinical cervical specimens were measured using quantitative real-time PCR (qRT-PCR). The SOX21-AS1 promoter was significantly hypomethylated in CC (P < 0.01). SOX21-AS1 hypomethylation was also significantly associated with an advanced Federation of Gynecology and Obstetrics (FIGO) stage (P < 0.01). The expression levels of SOX21-AS1 and SOX21 were noted to be higher in cancer vs. normal cervix (all P < 0.001). Moreover, the expression of SOX21-AS1 was positively correlated with SOX21 in all samples (r = 0.891, P < 0.001). Methylation statue of the SOX21-AS1 promoter region was negatively correlated with the expression levels of SOX21-AS1 and SOX21 (SOX21-AS1, r = - 0.628; SOX21, r = - 0.648; both P < 0.001). The methylation status of SOX21-AS1 displayed promising diagnostic potential for CC, exhibiting good sensitivity (100.0%) and specificity (69.2%), with an area under the curve of 0.846. In addition, bioinformatic analyses identified a potential link between SOX21-AS1 and the Wnt signaling pathway. Furthermore, methylation status of SOX21-AS1 was negatively correlated with ß-catenin/c-myc/cyclin D1 mRNA levels (rs = - 0.529, - 0.462 ,and - 0.383, respectively, P < 0.05). Our findings illuminated that lncRNA SOX21-AS1 showed hypomethylation in cervical cancer and SOX21-AS1 could serve as a novel biomarker for CC diagnosis or a potential therapeutic target.

Gene Signatures and Prognostic Values of m6A RNA Methylation Regulators in Ovarian Cancer.

BACKGROUND: N6-methyladenosine (m6A) is the most common form of mRNA modification under the field of "RNA epigenetics." However, its role in ovarian cancer (OC) development is poorly understood. In the current study, we aimed to identify gene signatures and prognostic values of m6A RNA methylation regulators. METHOD: Specifically, we downloaded Mutations and Copy number variant (CNV) data from the TCGA database for 579 OC patients, then analyzed gene expression and prognosis value using integrative bioinformatics. Thereafter, we verified the related biological processes of Wilms' tumor 1-associating protein (WTAP) gene using Gene set enrichment analysis (GSEA). RESULTS: Results showed that almost all ovarian cancer patients (99.31%) have CNVs with at least 1 m6A regulatory gene, whereas 83.76% of cases exhibited concurrence of CNVs in more than 4 m6A regulatory genes. Additionally, alteration of m6A regulators was associated with historical grade, whereas integrative bioinformatics and Cox multivariate model analysis revealed a significant correlation between high WTAP expression and worse ovarian cancer outcomes. Moreover, GSEA revealed that high WTAP expression was associated with cell cycle regulation and MYC targets. CONCLUSION: Overall, our findings demonstrate the significance of high-frequency genetic alterations of m6A RNA methylation regulators and WTAP's poor prognosis value in OC. These findings provide valuable insights into the role of m6A methylation in OC, and will be vital in guiding development of novel treatment therapies.

Hypomethylation of the lncRNA SOX21-AS1 has clinical prognostic value in cervical cancer.

AIMS: Cervical cancer seriously affects women's health. The function of methylated alterations in the long non-coding RNAs (lncRNAs) promote the progression and metastasis of cancer. Our study aims to identify the functional effects of lncRNA methylation in cervical carcinogenesis. MAIN METHODS: Genome-wide DNA methylation of 6 samples was assessed using the Illumina Infinium MethylationEPIC BeadChip. RNA sequencing (RNA-seq) data and survival follow-up time of 307 samples from The Cancer Genome Atlas (TCGA) dataset were enrolled in this study. The statistical analysis and graphical work were mainly realized by R language. KEY FINDINGS: Methylation map identified 3962 hypermethylated CpG sites and 4484 hypomethylated CpG sites in cervical cancer (|Δß| ≥ 0.20). Bioinformatic analysis of the lncRNA expression identified 363 upregulated and 664 downregulated lncRNAs with log2 (fold change) ≥ 1.00 in squamous cervical carcinoma (SCC) samples. Weighted gene co-expression network analysis (WGCNA) and Venn diagram revealed that lncRNA MAGI2 antisense RNA 3 (lncRNA MAGI2-AS3), lncRNA WT1 antisense RNA (lncRNA WT1-AS) and lncRNA SOX21 antisense divergent transcript 1 (lncRNA SOX21-AS1) were important methylation changed lncRNAs. Kaplan-Meier survival curves showed only lncRNA SOX21-AS1 had clinical prognostic value in cervical cancer. Gene set enrichment analysis (GSEA) suggest that lncRNA SOX21-AS1 involve in the multiple cellular processes and might significantly suppress cervical tumorigenesis. SIGNIFICANCE: These insights into the functional role of lncRNA SOX21-AS1 DNA methylome alterations in cervical cancer might promote clinically new applicable in diagnosis and prognosis.

Study on the relationship between methylation status of HPV 16 E2 binding sites and cervical lesions.

BACKGROUND: The aim of this study was to investigate the methylation status of E2BSs in the HPV 16 long control region (LCR) in clinical cervical samples. METHODS: Methylation status of the four E2BSs in 43 clinical cervical samples with HPV 16 infection was quantitatively detected using pyrosequencing. Meanwhile, Quantivirus® HPV E6/E7 RNA 3.0 assay (bDNA) was used to detect E6/E7 mRNA levels in the corresponding specimens. RESULTS: Our results showed that methylation status of E2BS1, 2 and 4 sites in high-grade squamous intraepithelial lesions (HSIL) and cervical cancer were significantly higher than that of asymptomatic HPV 16 infection and low-grade squamous intraepithelial lesions (LSIL) (all P < .05). Furthermore, methylation status of HPV 16 E2BS1 and 2 was positively correlated with E6/E7 mRNA levels (rs = 0.529 and 0.512 respectively, P < .01). Receiver operating characteristic curve analysis was used to compare the diagnostic performance of E2BSs methylation. When the Youden index was the maximum value, the methylation level of E2BS1 and E2BS2 all demonstrated optimum diagnostic sensitivity of 77.8%, and specificity of 80% and 92%, respectively. CONCLUSIONS: The methylation status of E2BS1 and 2 may have utility as diagnostic markers for the severity of cervical lesions in the future.

Effects of shRNA-mediated silencing of PSMA7 on cell proliferation and vascular endothelial growth factor expression via the ubiquitin-proteasome pathway in cervical cancer.

This study aims to evaluate the effects of PSMA7 silencing on cervical cancer (CC) cell proliferation and vascular endothelial growth factor (VEGF) expression through the ubiquitin-proteasome pathway. CC tissues (n = 43) and normal tissues (n = 27) were first collected from patients. Human CC cell line (SiHa) and human normal cervical epithelial cells (H8) were obtained and classified into the normal, blank, negative control (NC), PSMA7-shRNA1, and PSMA7-shRNA2 groups, respectively. In situ hybridization was used to detect the expressions of wild-type and mutant p53 proteins. Immunofluorescence assay was carried out to test the activity of 20S proteasomes. Reverse transcription quantitative polymerase chain reaction and Western blot analysis were both performed to determine the expressions of PSMA7, ubiquitin, P27, P53, and VEGF in sample tissues and cells. 3-(4, 5-dimethylthiazol-2-yl)-2, 5-diphenyltetrazolium bromide (MTT) assay was used to analyze cell proliferation rates, and flow cytometry was used to analyze the cell cycle and the apoptotic rate. Compared with normal tissues, CC tissues showed increased expression levels of PSMA7, ubiquitin, p53, VEGF as well as increased activity of 20S proteasomes but exhibited a decrease in p27 expression. Compared with the blank and NC groups, the PSMA7-shRNA1 and PSMA7-shRNA2 groups all had decreased expression levels of PSMA7, ubiquitin, p53, and VEGF as well as decreased cell proliferation, 20S proteasomes activity, and cell number in the S phase, increased p27 expression, cell apoptosis and cell number in the G0/G1 phase. Our study demonstrated that PSMA7 silencing can suppress CC cell proliferation and VEGF expression in addition to promoting cell apoptosis through inhibiting the UPP signaling pathway.

Ambient air pollution, H19/DMR methylation in cord blood and newborn size: A pilot study in Zhengzhou City, China.

Prenatal exposure to air pollutants is believed to be associated with adverse birth outcomes. However, the potential mechanisms, especially the epigenetic modified effects, still remain unclear. This study was designed to explore the association of air pollution, H19/DMR methylation levels, and birth weight and length. A total of 527 mother-infant pairs were recruited from Houzhai Center Hospital, Zhengzhou. Air pollution data during the study period was collected. The methylation at H19 promoter region and H19 DMR in maternal and cord bloods were determined using real-time PCR analysis. Ridge regression was used to analyze the association of air pollutants exposure during gestation with H19/DMR methylation and birth weight and length respectively. Results showed that prenatal exposure to NO2 was associated with higher H19 methylation in cord blood. Whereas SO2 and PM10 exposure were associated with lower H19 and H19 DMR methylation respectively. After stratification by pregnancy trimesters, the association of H19 methylation in cord blood with PM10 exposure also was found. Furthermore, prenatal exposures to air pollutants also were associated with birth weight and length. Specifically, with the increase of maternal SO2 exposure during the entire pregnancy, birth weight and length significantly decreased. While birth weight and birth length were significantly increased with NO2 exposure. The stratified analysis also found the associations between PM10 exposure and birth sizes in different trimesters. In conclusion, the gene methylation level in cord blood might be associated with prenatal environmental exposures. Birth weight and length were associated with both prenatal environmental exposures and genetic factors.

An improved method for primary culture of normal cervical epithelial cells and establishment of cell model in vitro with HPV-16 E6 gene by lentivirus.

Normal human cervical epitheliums infected with HPVs gene in vitro are underlying molecular models to investigate physiological mechanisms of cervical epithelia and cervical disease. The current study aimed to establish a modified culture method for cervical epithelium and explore the feasibility of transfection with HPV-16 E6 gene mediated by lentivirus in primary cervical cells. The cells were dissociated enzymatically using Dispase II combined with 0.25% Trypsin-0.01% ethylenediamine tetracetic acid (EDTA) or Collagenase I. The detached effectiveness of Dispase II at different times was compared. Isolated cells were cultured and subcultured in modified keratinocyte serum-free medium (K-SFM) supplemented with 5% fetal bovine serum (FBS) or K-SFM alone. Cytokeratin was used as the identification of cervical epitheliums. Proliferative capacity and growth curve of cervical epitheliums were evaluated by cell counting kit-8 (CCK-8). The cells at passages 3 were used to infect with HPV-16 E6 gene by lentivirus. The expression of green fluorescent protein (GFP) presented in the infected cells was observed via fluorescence microscopy and the levels of E6 mRNA were detected by quantitative real-time PCR (qRT-PCR). The results indicate that cervical epithelial cells can be isolated successfully by Dispase II combined with 0.25% Trypsin-0.01% EDTA method for 20 hr and maintained for five or six passages in K-SFM medium with 5% FBS. The present study proposed a brief and high-yield protocol for isolation and culture of human cervical epitheliums. Moreover, an infected cell model with HPV-16 E6 gene mediated by lentivirus was established which can do duty for studies in vitro on the carcinogenic mechanism of HR-HPVs.

Leptin siRNA promotes ovarian granulosa cell apoptosis and affects steroidogenesis by increasing NPY2 receptor expression.

Leptin has been found to be involved in the ovarian granulosa cell apoptosis and steroidogenesis. Loss of neuropeptide Y (NPY) can correct the obesity syndrome of mutant mice lacking of leptin (ob/ob). However, the association of NPY and leptin in ovarian granulosa cells and ovarian steroidogenesis has not been investigated. Here, C57BL/6J ob/ob mice and C57BL/6J (control) mice were intraperitoneally injected with PBS, leptin (0.4µg/g bodyweight) or BIIE0246 (NPY2 receptor [NPY2R] antagonist, 30µg/kg bodyweight) every day for 15days. We found that NPY2R mRNA expression in mouse ovary was suppressed by leptin treatment, but increased by leptin deficiency. Leptin or BIIE0246 treatment significantly increased E2, but notably decreased progesterone in both mice. A lower level of E2 and a higher level of progesterone was observed in ob/ob mice than in control mice. Further, we then knocked down leptin expression in human ovarian granulosa cells by siRNA transfection and treated the cells with DMSO or BIIE0246. In vitro experiments confirmed the findings in mice. siLeptin treatment decreased the secretion of E2, anti-Mullerian hormone (AMH), insulin-like growth factor (IGF)-1 and transforming growth factor (TGF)-ß, and the cell proliferation, but increased the secretion of progesterone and cell apoptosis. Western blotting analysis of PCNA, Bcl-2 and Bax confirmed the results of cell proliferation and apoptosis. Activation of JAK2 and STAT3 was also suppressed by knocking down leptin. All the effects of siLeptin on ovarian granulosa cells were partially reversed by BIIE0246. In conclusion, knockdown of leptin significantly affected ovarian steroidogenesis and ovarian function through NPY. siLeptin transfection impaired the activation of JAK2/STAT3 and contributed to ovarian granulosa cell apoptosis partially through up-regulating NPY2R expression.

Retrospective analysis of placenta previa with abnormal placentation with and without prophylactic use of abdominal aorta balloon occlusion.

OBJECTIVE: To evaluate the effectiveness of prophylactic abdominal aorta balloon occlusion in cases of placenta previa with abnormal placentation. METHODS: In a retrospective study, data were analyzed for patients who had placenta previa with placenta accreta and underwent elective cesarean delivery (>34 weeks) with or without temporary aortic balloon occlusion at a center in Zhengzhou, China, between October 2015 and September 2016. The primary clinical outcomes were operative time, estimated blood loss, intraoperative blood transfusion volume, hemoglobin, hysterectomy, and hospitalization. RESULTS: Among 69 eligible women, 38 had temporary balloon occlusion, and 31 had no balloon occlusion. Operative time, blood transfusion volume, change in hemoglobin, hysterectomy, and length of hospitalization did not differ. Although mean blood loss did not differ, fewer patients in the balloon group than the non-balloon group had an estimated blood loss of more than 1000 mL (24 [63%] vs 28 [90%]; P=0.009). In terms of different placental types, the estimated blood loss among women with placenta accreta and placenta increta was lower in the balloon group than in the non-balloon group (P<0.001 and P=0.01, respectively). CONCLUSION: Prophylactic balloon occlusion of the abdominal aorta reduced bleeding after cesarean delivery for women with abnormal placentation.

Changes in the Incidence of Congenital Anomalies in Henan Province, China, from 1997 to 2011.

AIM: To investigate changes in incidence and characteristics of congenital anomalies in infants in Henan Province of China over a period of 15 years. METHODS: Population-based surveillance in Henan Province was conducted from 1997 to 2011 in 75 hospitals (40 urban districts and 35 rural counties, comprising about 20% of the total births). Basic population information was obtained from the healthcare network. All live births, intrauterine deaths after 28 weeks, and stillbirths were included. Congenital anomalies were diagnosed and reported to Henan Provincial Maternal and Pediatric Healthcare Hospital. RESULTS: Of 1,815,920 births from 1997 to 2011, 15,660 cases of congenital anomalies were identified, resulting in an average incidence of 86.2 cases per 10,000 births. The incidence of congenital anomalies showed a significant downward trend (p < 0.0001) in rural areas and the whole province (p < 0.0001), but an increase in urban areas (p = 0.003). The incidence was much higher in rural than in urban areas in 1997, but this discrepancy decreased rapidly and no difference was seen between rural and urban areas in 2003. The incidence in females was higher than in males in 1997-1999 but decreased to a similar level as that in males in 2000. Maternal age exceeding 35 years was associated with a higher incidence of congenital anomalies. Among the 23 types of congenital anomalies recorded, neural tube defects were the most common; the incidence declined from 39.3 cases per 10,000 births in 1997 to 6.1 cases per 10,000 births in 2011. CONCLUSION: The incidence of congenital anomalies has decreased in Henan Province over the past 15 years due to significant reductions in rural areas and among girls. This decrease was partly related to a reduction in neural tube defects that was likely the result of a folic acid intervention in the province.

Maternal cardiac remodeling and dysfunction in preeclampsia: a three-dimensional speckle-tracking echocardiography study.

Aims preeclampsia (PE) is a pregnancy complication that remains a main cause of maternal morbidity and mortality. The aims of this study were to investigate left ventricle (LV) performance in PE and to compare maternal cardiac function between early-onset preeclampsia (EP) and late-onset preeclampsia (LP) by novel threedimensional (3D) speckle-tracking echocardiography (STE) parameters while considering LV loading and shape. Methods and Results Two-dimensional echocardiography and 3D STE were performed in 43 women with EP, 41 women with LP, and 81 normal pregnancies. Global longitudinal strain (GLS), global circumferential strain (GCS), global area strain (GAS), and global radial strain (GRS) were measured using 3D speckle-tracking software. There was eccentric hypertrophy and reduced LV ejection fraction (EF) in PE; meanwhile, GLS in EP and LP, GCS in LP, as well as GAS and GRS in EP significantly decreased in PE versus controls. All 3D strain indices were correlated with gestation age. Increased left atrial (LA) volume index was detected in PE. Higher LV mass index and lower 3D-derived strain value were present in women with EP compared to that in women with LP. Conclusion PE cases exhibited significant eccentric hypertrophy, ventricular dysfunction, and LA remodeling. Furthermore, myocardial deformation abnormalities preceded chamber dysfunction in this hypertensive disorder complicated pregnancy. Compared with LP, women with EP demonstrated more remarkable cardiac damage.

Structural and functional changes in maternal left ventricle during pregnancy: a three-dimensional speckle-tracking echocardiography study.

BACKGROUND: Pregnancy represents a physiological adaptation to the transient load changes of maternal heart. This study aimed to investigate maternal left ventricle (LV) performance during normal pregnancy by three-dimensional speckle-tracking echocardiography (3D STE) parameters considering LV loading and shape. METHODS: Sequential two-dimensional echocardiography (2DE) and 3D STE were performed on 68 women during each pregnancy trimester and 6 to 9 weeks after delivery, while thirty age-matched, healthy, nonpregnant women served as controls. Global longitudinal strain (GLS), global circumferential strain (GCS), global area strain (GAS) and global radial strain (GRS) were measured. RESULTS: Increased cardiac index and progressive eccentric hypertrophy was detected, which subsequently recovered postpartum. In late pregnancy, GLS, GCS, GAS and GRS significantly decreased (P < 0.05) accompanied by a slight reduction of LV ejection fraction (EF) (P < 0.05), and these values returned postpartum to baseline level. All 3D strain indices correlated well with gestation age (P < 0.01), while compared to other components, GAS exhibited the strongest association with 3D EF (r = 0.549) and sphericity index (r = 0.328), and was the only parameter that correlated well with LV mass index (r = 0.22). CONCLUSIONS: This study gives normal ranges of 3D STE indices in pregnancy. 3D STE demonstrated modified myocardial deformation and changes in maternal LV structure and function during the gestation period.

Epidemiology and genotype distribution of human papillomavirus (HPV) in women of Henan Province, China.

BACKGROUND: Human papillomavirus (HPV) infection is the commonest sexually transmitted infection, which is associated with various clinical conditions. This study aimed to determine the distribution of HPV genotypes in the women of Henan Province, China. METHODS: Cervical samples were collected by liquid-based method and consecutively evaluated cervical cytology and the presence of HPV DNA. Cytological classification was made according to the Bethesda 2001 criteria. HPV DNA was tested with xMAP technology by Luminex200™. RESULTS: In cervical abnormalities, the infection rate of HPV was 84.0%, single type was 71.0%, multiple type was 13.0%, high risk HPV was 78.0% and low risk HPV was 8.0%. The most common genotypes found were HPV16, 52, 58, 33, 18, 6 and 39. The most common HPV genotypes were HPV16, 52, 6, 58 and 33 in NILM, HPV16, 52, 18, 58 and 6 in ASCUS, HPV52, 16, 58, 6 and 39 in LSIL, HPV16, 33, 58, 18 and 51 in HSIL, and HPV16, 18, 33, 58 and 52 in ICC, respectively. The prevalence of single HPV and multiple HPV was 64.8% and 13.3%, respectively. Age-specific prevalence of multiple HPV exhibited a "U" shaped curve. CONCLUSIONS: Single HPV genotype infection was predominantly detected in different groups of cervical lesions in Henan Province, and HPV16, 52, 58, 33, 18 and 6 were the priority HPV types.

Quantivirus® HPV E6/E7 RNA 3.0 assay (bDNA) is as sensitive, but less specific than Hybrid Capture 2 test.

Human papillomavirus (HPV) infection is the primary cause of cervical cancer. The Quantivirus(®) HPV E6/E7 RNA 3.0 assay (DiaCarta, CA, USA) detects E6/E7 mRNA of 13 high risk subtypes and 6 low risk subtypes. Cervical specimens collected in PreservCyt were processed for HPV detection. Cervical biopsies were taken only from those women with abnormal colposcopy. 200 out of 272 (73.5%) cases were mRNA positive. The percentage of HPV E6/E7 mRNA positive samples increases with the severity of the cytological diagnosis, but not in histological diagnosis. In 146 patients with both tests, the E6/E7 mRNA assay had significant higher positivity rate than the Hybrid Capture 2 assay (75.3% versus 62.3%). The HPV mRNA assay and the HC2 assay had the same sensitivity of high grade cervical intraepithelial neoplasia (CIN 2+), 82.4% (14/17) (95% confidence interval [CI], 64.3, 100). However, the specificity of CIN 2+ for the HPV mRNA assay was significantly lower than HC2 assay. Receiver operating characteristic curve analysis was used to compare the diagnostic performance of the E6/E7 mRNA and HC2. E6/E7 mRNA achieved 58.8% sensitivity with 74.1% specificity, HC2, achieved 47.1% sensitivity with 70.7% specificity. The overall performance of HPV E6/E7 mRNA assay for detecting CIN 2+ was lower than HC2. This study does not support the use of this assay in screening for cervical cancer prevention alone.

Maternal mortality in Henan Province, China: changes between 1996 and 2009.

BACKGROUND: Maternal deaths occur mostly in developing countries and the majority of them are preventable. This study analyzes changes in maternal mortality and related causes in Henan Province, China, between 1996 and 2009, in an attempt to provide a reliable basis for introducing effective interventions to reduce the maternal mortality ratio (MMR), part of the fifth Millennium Development Goal. METHODS AND FINDINGS: This population-based maternal mortality survey in Henan Province was carried out from 1996 to 2009. Basic information was obtained from the health care network for women and children and the vital statistics system, from specially trained monitoring personnel in 25 selected monitoring sites and by household survey in each case of maternal death. This data was subsequently reported to the Henan Provincial Maternal and Child Healthcare Hospital. The total MMR in Henan Province declined by 78.4%, from 80.1 per 100 000 live births in 1996 to 17.3 per 100 000 live births in 2009. The decline was more pronounced in rural than in urban areas. The most common causes of maternal death during this period were obstetric hemorrhage (43.8%), pregnancy-induced hypertension (15.8%), amniotic fluid embolism (13.9%) and heart disease (8.0%). The MMR was higher in rural areas with lower income, less education and poorer health care. CONCLUSION: There was a remarkable decrease in the MMR in Henan Province between 1996 and 2009 mainly in the rural areas and MMR due to direct obstetric causes such as obstetric hemorrhage. This study indicates that improving the health care network for women, training of obstetric staff at basic-level units, promoting maternal education, and increasing household income are important interventional strategies to reduce the MMR further.