Analysis of the results of non-invasive prenatal testing (NIPT) in 545 pregnant women in advanced maternal age.

OBJECTIVE: This research aimed to explore the value of non-invasive prenatal testing (NIPT) as a prenatal screening method for common aneuploidy in pregnant women in advanced maternal age. PATIENTS AND METHODS: A retrospective analysis was conducted on a cohort of 545 mothers with singleton pregnancy who were of advanced age and underwent NIPT testing voluntarily at the Second Affiliated Hospital of Guangxi Medical University between November 2020 and February 2023. In cases where NIPT testing suggested chromosomal abnormalities, amniocentesis was conducted, karyotype analysis or gene copy number variation (CNV) testing was performed, and the pregnancy outcome was tracked. RESULTS: Among 545 pregnant women in advanced maternal age, 11 cases had high risk of NIPT, and the detection rate was 2.02%. Among 11 pregnant women deemed to be at high risk for NIPT, 10 cases underwent amniotic fluid puncture, and one case refused amniocentesis despite a suggestive chromosomal abnormality in NIPT. The overall rate of amniocentesis was 1.83%. Among 11 pregnant women deemed to be at high risk for NIPT, the results suggested that 5 of them had trisomy 21, 1 had trisomy 18, 2 had sex chromosome abnormalities (specifically, 47, XYY), and 3 had other autosomal abnormalities. The positive predictive values of NIPT were 100.00% for the cases of trisomy 21 and trisomy 18, while the values were 0.00% for the cases of sex chromosome abnormalities and other autosomal abnormalities, respectively. After the follow-up, each of the 6 cases that were diagnosed with definite chromosomal abnormalities during prenatal screening opted to induce labor and terminate the pregnancy, including 5 cases that exhibited a high risk of trisomy 21 (47, XN,+21) and 1 case that showed a high risk of trisomy 18 (47, XN,+18). One instance of NIPT indicated a potential abnormality in the sex chromosomes, the individual declined to undergo amniocentesis. Another instance of NIPT suggested a sex chromosome abnormality, amniocentesis revealed a deletion of 0.72 Mb in the 4q22.1 region. They all had normal pregnancies and normal newborns. The remaining three cases had normal prenatal diagnoses (46, XN) and experienced normal pregnancies with healthy neonatal outcomes. CONCLUSIONS: NIPT has demonstrated its efficacy as a screening tool in the face of increasing maternal age. As a result, it can substantially decrease the requirement for invasive prenatal diagnosis. Nonetheless, there are instances of erroneous positive outcomes in NIPT testing, and therefore, interventional prenatal diagnosis remains necessary for individuals with high-risk screening outcomes to prevent false positives or unwarranted labor induction.

Pheochromocytoma in pregnancy: a case report.

BACKGROUND: Pheochromocytoma (PHEO) in pregnancy is a rare disease, and the management of this situation is not well established. The misdiagnosis of the disease often leads to adverse outcomes for both mothers and infants. CASE REPORT: Here, we describe a case of a pregnant woman at 25 weeks' gestation presenting with headache, chest tightness, and shortness of breath, which was found to have a left adrenal mass and hypertensive urgency and diagnosed pregnancy with PHEO in our hospital. The timely diagnosis and proper treatment came with an optimal maternal and fetal outcome. CONCLUSIONS: The case of pheochromocytoma in pregnancy we report demonstrated that early diagnosis and a multidisciplinary approach ensured a favorable prognosis for both maternal and fetal, and we also addressed the importance of individual basis evaluation during the whole journey.

Analysis of the anemia characteristics in early pregnancy and outcomes of pregnant women with hemoglobin H disease.

OBJECTIVE: This study aimed to analyze the anemia characteristics in early pregnancy of pregnant women with hemoglobin H (Hb H) disease and their pregnancy outcomes, and to provide reference to the pregnancy management and treatment of these women. PATIENTS AND METHODS: Twenty-eight cases of pregnant women who had been diagnosed with Hb H disease in the Second Affiliated Hospital of Guangxi Medical University from August 2018 to March 2022 were retrospectively analyzed. Moreover, 28 cases of normal pregnant women in the same period were randomly enrolled as a control group for comparison. The means and percentages of the anemia characteristics in early pregnancy and the pregnancy outcomes were calculated and the analysis of variance, Chi-square test, and Fisher's exact test were applied for comparison. RESULTS: A total of 13 cases of missing type (46.43%) and 15 cases of non-missing type (53.57%) were observed in the 28 cases of pregnant women with Hb H disease. The genotypes were as follows: 8 cases of -α3.7/--SEA (28.57%), 4 cases of -α4.2/--SEA (14.29%), 1 case of -α4.2/--THAI (3.57%), 9 cases of αCSα/--SEA (32.14%), 5 cases of αWSα/--SEA (17.86%), and 1 case of αQSα/--SEA (3.57%). Twenty-seven patients with Hb H disease (96.43%) were anemic, including 5 cases of mild anemia (17.86%), 18 cases of moderate anemia (64.28%), 4 cases of severe anemia (14.29%), and 1 case of non-anemia (3.57%). Compared with the control group, the Hb H group had significantly higher red blood cell count and significantly lower Hb, mean corpuscular volume, and mean corpuscular hemoglobin, and the differences were statistically significant (p < 0.05). The Hb H group had higher incidence rates of blood transfusion during pregnancy (BTDP), oligohydramnios fetal growth restrictions (FGR), and fetal distress than the control group. The weights of neonates were lower in the Hb H group than in the control group. Statistically significant differences were found between these two groups (p < 0.05). CONCLUSIONS: The genotype missing type of pregnant women with Hb H disease was mainly -α3.7/--SEA and the non-missing type was mainly αCSα/--SEA. Hb H disease can easily cause various degrees of anemia (mainly moderate anemia in this study). Moreover, it can increase the incidence rate of pregnancy complications such as BTDP, oligohydramnios, FGR, and fetal distress, which will reduce the weight of neonates and seriously affect maternal and infant safety. Therefore, maternal anemia and fetal growth and development should be monitored during pregnancy and delivery, and transfusion therapy should be used to improve adverse pregnancy outcomes caused by anemia when necessary.

Association of MTHFR gene C677T polymorphism with pregnancy outcome.

OBJECTIVE: The two objectives of the present study were to analyze the correlation between pregnancy outcomes and methylenetetrahydrofolate reductase (MTHFR) gene C677T polymorphism, and to provide evidence for clinical improvement of adverse pregnancy outcomes. PATIENTS AND METHODS: 1,995 cases of pregnant women were selected as objects of the study, and underwent MTHFR gene C677T polymorphism detection in the Second Affiliated Hospital of Guangxi Medical University from October 2020 to September 2021, in which 919 cases whose pregnancy outcomes could be tracked. According to the result of MTHFR gene C677T polymorphism detection, 1,995 cases of pregnant women were classified into a wild-type (CC) group, heterozygous (CT) group, or homozygous (TT) group, and the distributions of MTHFR gene C677T polymorphism in pregnant women were analyzed. In addition, according to complications, 919 cases of pregnant women whose pregnancy outcomes could be tracked were divided into the normal pregnancy group (676 cases), GDM group (146 cases), HDP group (47 cases), abnormal fetus group (13 cases), and spontaneous abortion group (37 cases), and the genotype distributions of MTHFR gene C677T in each group were analyzed. Besides, according to genotype, 919 cases of pregnant women whose pregnancy outcome could be tracked were divided into CC group (515 cases), CT group (289 cases), and TT group (115 cases), and the correlation between genotype and pregnancy outcomes, such as fetal distress, postpartum hemorrhage, premature birth, and full-term delivery, was then analyzed. RESULTS: For the C677T locus of MTHFR gene in the 1,995 cases of pregnant women, there are 1,162 (58.25%) cases of CC genotype, 649 (32.53%) cases of CT genotype, 184 (9.22%) cases of TT genotype. The proportion of TT genotype in GDM, HDP, abnormal fetus, and spontaneous abortion groups were respectively 19.86% (29/148), 25.53% (12/47), 46.15% (6/13), 40.54% (15/37), which were significantly higher than that in normal pregnancy group (7.84%, 53/676), and there were statistically significant differences (p < 0.05). The full-term birth rate in TT group (75.65%, 87/115) was lower than those of CC group (91.26%, 470/515) and CT group (89.27%, 258/289), and there were statistically significant differences (p < 0.05). CONCLUSIONS: The TT type gene mutation at the C677T site ofMTHFR gene is closely related to conditions that contribute to a decrease in the number of full-term births and increase the risk of adverse pregnancy outcomes, including GDM, HDP, spontaneous abortion, and fetal abnormalities.

[A case of bromadiolone poisoning leading to digestive tract, abdominal hemorrhage and secondary paralytic ileus].

Bromadiolone, commonly known as super warfarin, is a long-acting coumarin dicoumarin rodenticide. The mechanism of bromadiolone is mainly to inhibit vitamin K1 epoxide reductase and affect the synthesis of coagulation factors Ⅱ, Ⅶ, Ⅸ and Ⅹ, which causes blood coagulation dysfunction and systemic multiple organ hemorrhage. Here, we report of a case of bromadiolone poisoning patient who had digestive tract, abdominal hemorrhage, as well as secondary paralytic ileus. After blood product transfusion and vitamin K1 supplementation, the patient was discharged after the physical condition was improved. It's suggestied that clinicians should pay attention to rare complications to prevent missed diagnosis when treating other bromadiolone poisoning.

Analysis results of 579 cases of genomic copy number variation sequencing of pregnant women in prenatal diagnosis.

OBJECTIVE: This study explored the usefulness of genomic copy number variation sequencing (CNV-Seq) in the prenatal diagnosis of pregnant women. PATIENTS AND METHODS: Based on prenatal diagnostic indications, CNV-Seq analysis was done in the samples from the 579 pregnant women of the 7 subgroups that included advanced maternal age (group A), high risk noninvasive prenatal test (NIPT) (group B), high risk Down's (Group C), abnormal ultrasound findings (Group D), adverse pregnancy history (Group E), chromosome abnormalities in couples (Group F), and the mixed group (Group G). RESULTS: A total of 57 (9.84%) cases have abnormal CNV-Seq results. Among them, 21 cases were aneuploid chromosomal number abnormalities (3.63%, 21/579), and 36 cases were CNV abnormalities (6.22%, 36/579), including 7 cases of pathogenic copy number alteration (pCNA) (1.21%, 7/579) and 29 cases variants of uncertain significance (VUS) (5.01%, 29/579). The total detection rates of abnormal CNV-Seq in Group G and Group B were 20.27% (15/74) and 15.91% (14/88), which were significantly higher than those in other groups (p < 0.05). Among 36 cases of abnormal CNV-Seq, 7 cases were chromosome fragment deletion or duplication, which were pathogenic CNV, and some rare chromosomal diseases were detected. CONCLUSIONS: Patients with a high risk of NIPT or multiple indications of prenatal diagnosis are highly suspected of chromosomal diseases. CNV-Seq is a useful tool for detecting chromosome abnormalities for prenatal diagnosis of pregnant women more accurately and provides more comprehensive information for prenatal diagnosis to reduce birth defects.

Analysis results of 169 cases of chorionic villus samples of missed abortion using high throughput sequencing.

OBJECTIVE: This study aimed to evaluate the use of high-throughput sequencing (HTS) technology to detect chromosomes in chorionic villus samples of missed abortion embryos and investigate its utility in the genetic diagnosis of missed abortion. PATIENTS AND METHODS: HTS was used to assess chorionic villus samples obtained from 169 patients with missed abortions from August 2020 to March 2022, at the Second Affiliated Hospital of Guangxi Medical University. The test results were statistically analyzed. To investigate the impact of advanced age on the incidence of chromosomal abnormalities, the patients were divided into two groups: elderly (≥35 years) and nonelderly pregnant women (<35 years). RESULTS: (1) Among the samples of 169 patients, 100 (59.17%) cases of chromosomal abnormalities were detected. Among these 100, 90 (90%) had chromosomal numerical abnormalities and 10 (10%) had chromosomal structural abnormalities. (2) Chromosomal numerical abnormality was abnormalities mainly included aneuploidy (92.22%, 83/90), with trisomy (62.22%, 56/90) and monosomy (22.22%, 20/90) accounting for the majority. The top three numerical abnormalities included 18 cases of Turner syndrome (monosomy X; 20%, 18/90), 10 cases of trisomy 16 (11.11%, 10/90), and 10 cases of trisomy 22 (11.11%, 10/90). (3) Villous chromosomal abnormalities were found in 48 (70.59%) elderly pregnant women, and 52 (51.48%) nonelderly pregnant women, with statistically significant differences (p < 0.05). CONCLUSIONS: (1) Chromosomal abnormality is an important cause of missed abortion, it majorly includes chromosomal numerical abnormality, of which most cases are of aneuploidy. (2) Advanced age may increase the risk of embryonic chromosomal abnormalities. (3) Villus chromosome detection using HTS has a positive value and can be used for analyzing and determining the causes of missed abortion.

Pregnancy outcome analysis of 94 patients with pulmonary arterial hypertension during pregnancy.

OBJECTIVE: The aim of the study was to analyze the pregnancy outcomes of patients with pulmonary arterial hypertension to provide a reference for clinical diagnosis and treatment. PATIENTS AND METHODS: Clinical data of 94 patients with a pregnancy complicated by pulmonary hypertension were retrospectively analyzed. The means and percentages of the pregnancy outcomes were calculated, and the analysis of variance, Chi-square test, and Fisher's exact test were applied for comparison. RESULTS: The pregnancy outcomes were less favorable in the severe pulmonary arterial hypertension group compared to the mild and moderate groups. The more severe the pulmonary arterial hypertension, the worse the heart function. A poorer heart function was associated with a poorer prognosis across different pregnancy outcomes. CONCLUSIONS: A pregnancy with more severe pulmonary arterial hypertension and worse cardiac function has a poorer maternal and infant prognosis and pregnancy outcome. Cesarean section is the preferred delivery method for patients with severe pulmonary arterial hypertension, whereas vaginal delivery is preferred for patients with mild or moderate pulmonary arterial hypertension and good cardiac function.

Erratum: Azimuthal Anisotropy at the Relativistic Heavy Ion Collider: The First and Fourth Harmonics [Phys. Rev. Lett. 92, 062301 (2004)].

This corrects the article DOI: 10.1103/PhysRevLett.92.062301.

Biological Characteristics and Genetic Diversity of Phomopsis asparagi, Causal Agent of Asparagus Stem Blight.

Asparagus stem blight is a regional disease. In the present study, we compared strains of Phomopsis asparagi from six different provinces to determine their biological characteristics and genetic diversity, differences in the pycnidium and conidium production, pathogenicity, and growth rate. Considerable differences were established in the pycnidium and conidium production among the P. asparagi strains from the six studied provinces. The largest pycnidium and conidium production had the strains from Fujian, followed by those from Hainan. The virulence of P. asparagi strains was significantly different but without a correlation with the geographical source of the strain. FJ2 had the highest virulence, followed by HN2, SD4, and SD5, whereas SD5 had the lowest virulence. The colony diameter and dry weight of the strains of asparagus stem blight fungus from the six provinces were substantially different. The colonies of HN1-5 had the largest diameters, whereas those of XT1-5, LT1-3, FJ1-5, and SX6 had smaller diameters. Four primers with good repeatability and strong specificity were selected from 100 intersimple sequence repeat (ISSR) primers. ISSR-PCR amplification was performed on 36 strains of asparagus stem blight fungus, and a large number of repeatable DNA fingerprints were obtained. Most of the amplified fragments were within 300 to 500 bp. In all, 69 total points, 64 multiple points, and 92.75% polymorphism points were established. The number of ISSR gene sites detected by four primers ranged from 14 to 20, with an average of 16 multiple sites. The copolymerization was divided into three groups: XT1-5, LT1-3, and FJ1-5, which were clustered into the first group; SD1-6, SX1-6, and HB1-6, clustered into the second group; and HN1-5 in the third group. The results of the cluster analysis revealed that the strains of the neighboring provinces had a nearer phylogenetic relationship than that between distant ones. Therefore, the system evolution of P. asparagi is related to the geographical distribution of its strains.

Measurement of the cosmic ray proton spectrum from 40 GeV to 100 TeV with the DAMPE satellite.

The precise measurement of the spectrum of protons, the most abundant component of the cosmic radiation, is necessary to understand the source and acceleration of cosmic rays in the Milky Way. This work reports the measurement of the cosmic ray proton fluxes with kinetic energies from 40 GeV to 100 TeV, with 2 1/2 years of data recorded by the DArk Matter Particle Explorer (DAMPE). This is the first time that an experiment directly measures the cosmic ray protons up to ~100 TeV with high statistics. The measured spectrum confirms the spectral hardening at ~300 GeV found by previous experiments and reveals a softening at ~13.6 TeV, with the spectral index changing from ~2.60 to ~2.85. Our result suggests the existence of a new spectral feature of cosmic rays at energies lower than the so-called knee and sheds new light on the origin of Galactic cosmic rays.

Hollow-Core-Photonic-Crystal-Fiber-Based Miniaturized Sensor for the Detection of Aggregation-Induced-Emission Molecules.

A miniature sensor for detection of aggregation-induced-emission (AIE) molecules is proposed in this work. The sensing head is fabricated by use of hollow-core photonic crystal fiber with a core diameter of about 4.8 µm. The cladding holes are sealed with a fusion splicing technique, and the central hole remains open to allow the filtration of solution with AIE molecules. When the solution is excited by an ultraviolet lamp, the fluorescence is received by a fiber-optic spectrometer. The fluorescence intensity is associated with the concentration of AIE molecules and the infiltrated-core length. In the whole process of the experiments, the output-peak wavelength is stable, which indicates that the existing forms of AIE particles are stable, and the fluorescence reabsorption can be neglected. The experimental results obtained are in accordance with traditional microplate-spectrophotometer methods. The most exciting result is that the amount of sample measured can be as low as 0.36 nL, which allows the detection of AIE molecules at only 0.02 pmol. In addition, the miniature sensor was successfully applied to the detection of an AIE-based bioprobe for evaluating the activity of the dipeptidyl-peptidase 4 (DPP-4) inhibitor sitagliptin with an IC50 of 59.80 ± 3.06 nM. The advantages of small device size and nanoliter-scale sample volumes suggest that the proposed sensor is promising for many biosensing applications.

Erratum: Observation of D

This corrects the article DOI: 10.1103/PhysRevLett.113.142301.

MiR-144-3p inhibits the proliferation and metastasis of pediatric Wilms' tumor cells by regulating Girdin.

OBJECTIVE: The aim of this study was to investigate the role of miR-144-3p in the proliferation and metastasis capacity of pediatric Wilms' tumor (WT) cells and to explore the underlying mechanism. PATIENTS AND METHODS: The quantitative Reverse Transcription-Polymerase Chain Reaction (qRT-PCR) was performed to measure the expression level of miR-144-3p in pediatric WT tissues and cell lines (G401). A bioinformatics software was utilized to predict the interaction between miR-144-3p and Girdin. Subsequently, the interaction was further verified by dual luciferase reporter (DLR) gene assay and Western blot. The proliferation and colony formation ability of G401 cells were examined by MTT (3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyl tetrazolium bromide) and colony formation assay, respectively. Finally, the effect of miR-144-3p on cell invasion and migration was analyzed by transwell assay. RESULTS: In the current study, we found that the expression level of miR-144-3p was significantly reduced in pediatric WT tissues and cells, whereas Girdin expression was upregulated. On-line target gene prediction software was applied to screen Girdin, which was considered as a downstream target gene of miR-144-3p. The interaction between miR-144-3p and Girdin was further verified by dual Luciferase reporter gene assay and Western blot. Subsequent experiments demonstrated that the proliferation and metastasis ability of cells was remarkably suppressed after up-regulating the expression of miR-144-3p. However, an addition of Girdin could reverse the effect of miR-144-3p. CONCLUSIONS: MiR-144-3p, which was up-regulated in pediatric WT, might inhibit the proliferation and metastasis of the cells by directly targeting Girdin. This further indicated that miR-144-3p could be a potential therapeutic target for the treatment of pediatric WT.

An Exploration of the Protective Effects of Investigators' Ethical Awareness upon Subjects of Drug Clinical Trials in China.

Up till now, China has not enacted any legal mechanisms governing certification or supervision for ethics committees. This article analyses deficiencies in the protection of subjects in clinical drug trials under China's current laws and regulations; it emphasizes that investigators, as practitioners who have direct contact with subjects, play significant roles in protecting and safeguarding subjects' rights and interests. The paper compares the status quo in China in this area to that of other countries and discusses ways China might enhance the protection of rights and interests of trial subjects, such as enhancing the ethical awareness of investigators through training, improving laws and regulations, and strengthening the communication between investigators and ethics committees.

Multimode fiber tip Fabry-Perot cavity for highly sensitive pressure measurement.

We demonstrate an optical Fabry-Perot interferometer fiber tip sensor based on an etched end of multimode fiber filled with ultraviolet adhesive. The fiber device is miniature (with diameter of less than 60 µm), robust and low cost, in a convenient reflection mode of operation, and has a very high gas pressure sensitivity of -40.94 nm/MPa, a large temperature sensitivity of 213 pm/°C within the range from 55 to 85 °C, and a relatively low temperature cross-sensitivity of 5.2 kPa/°C. This device has a high potential in monitoring environment of high pressure.

[Comparison and application of two risk assessment methods for occupational lead exposure risk classification in a lead-acid battery enterprise].

Objective: To apply and compare two risk assessment methods for occupational lead exposure risk classification in a lead-acid battery enterprise. Methods: In April 2013, an occupational health survey was carried out in a lead-acid battery enterprise. Lead smoke and lead dust were tested in the workplace. The risk assessment index system for occupational chemical hazards that was established and optimized by the research group (referred to as "optimized index system" ) , as well as the Singapore semi-quantitative risk assessment model, was used for occupational lead exposure risk classification in the lead-acid battery enterprise. The two risk classification results were analyzed and compared. Results: In the lead smoke risk classification results, the optimized index system classified the raw material group and foundry group workshops as Class I hazardous and the assembling group workshop as Class II hazardous. The Singapore semi-quantitative risk assessment model classified the raw material group workshop as high risk and foundry group and assembling group workshops as extremely high risk. In the lead dust risk classification results, the optimized index system classified the raw material group workshop as Class I hazardous, while the plate painting group, plate cutting group, and assembling group workshops were classified as Class II hazardous. The Singapore semi-quantitative risk assessment model classified the raw material group workshop as medium risk, the plate painting group and plate cutting group workshops as high risk, and the assembling group workshop as extremely high risk. Conclusion: There are some differences in risk assessment of occupational lead exposure between the two risk assessment methods. The optimized index system is comparably more reasonable and feasible, and is highly operable.

Isolation and characterization of polymorphic microsatellite markers in the endangered species Bretschneidera sinensis Hemsl.

Bretschneidera sinensis is an endangered species that is mainly distributed in South China. As a tertiary relict and the single species in the Bretschneideraceae family, it has a high conservation value. To investigate the influence of human disturbance on its mating system, 63 new microsatellites were developed using restriction-site-associated DNA sequencing and their polymorphisms were tested on 30 samples from one population. Among the 63 microsatellites, the number of alleles per locus ranged from 2 to 16. The observed and expected heterozygosities ranged from 0.133 to 0.967 and from 0.127 to 0.912, respectively. These microsatellites may be used for studying the mating system of B. sinensis as well as the within-population hereditary structure.

Correction: Optofluidic lens with low spherical and low field curvature aberrations.

Correction for 'Optofluidic lens with low spherical and low field curvature aberrations' by H. T. Zhao et al., Lab Chip, 2016, 16, 1617-1624.