Identification of syncytiotrophoblast-derived cf-RNA OPA1 to predict the occurrence of preeclampsia.

Background: Pre-eclampsia (PE) poses a significant threat to mothers and infants worldwide. Studies indicate that taking low-dose aspirin before the 16th week of pregnancy may prevent approximately 70 % of PE cases, highlighting the importance of predicting PE. Cell-free RNA (cf-RNA) exhibits significant changes in the maternal peripheral blood during early pregnancy, making cf-RNA analysis a promising and less invasive method for predicting PE.

Revealing the regulation of allergic asthma airway epithelial cell inflammation by STEAP4 targeting MIF through machine learning algorithms and single-cell sequencing analysis.

Asthma comprises one of the most common chronic inflammatory conditions, yet still lacks effective diagnostic markers and treatment targets. To gain deeper insights, we comprehensively analyzed microarray datasets of airway epithelial samples from asthmatic patients and healthy subjects in the Gene Expression Omnibus database using three machine learning algorithms. Our investigation identified a pivotal gene, .

Accuracy of expanded noninvasive prenatal testing for maternal copy number variations: A comparative study with CNV-seq of maternal lymphocyte DNA.

Objective: To evaluate the accuracy of expanded noninvasive prenatal testing (NIPT) for maternal copy number variations.

Materials And Methods: Expanded NIPT was used to detect CNVs ≥2 Mb at a whole-genome scale. The threshold of maternal deletion was copy numbers (CN) ≤ 1.

Prediction model of preeclampsia using machine learning based methods: a population based cohort study in China.

Introduction: Preeclampsia is a disease with an unknown pathogenesis and is one of the leading causes of maternal and perinatal morbidity. At present, early identification of high-risk groups for preeclampsia and timely intervention with aspirin is an effective preventive method against preeclampsia. This study aims to develop a robust and effective preeclampsia prediction model with good performance by machine learning algorithms based on maternal characteristics, biophysical and biochemical markers at 11-13 +  weeks' gestation, providing an effective tool for early screening and prediction of preeclampsia.

Validation of the first-trimester machine learning model for predicting pre-eclampsia in an Asian population.

Objectives: To evaluate the performance of an artificial intelligence (AI) and machine learning (ML) model for first-trimester screening for pre-eclampsia in a large Asian population.

Methods: This was a secondary analysis of a multicenter prospective cohort study in 10 935 participants with singleton pregnancies attending for routine pregnancy care at 11-13 weeks of gestation in seven regions in Asia between December 2016 and June 2018. We applied the AI+ML model for the first-trimester prediction of preterm pre-eclampsia (<37 weeks), term pre-eclampsia (≥37 weeks), and any pre-eclampsia, which was derived and tested in a cohort of pregnant participants in the UK (Model 1).

Association between NTCP hepatic expression and inflammation/fibrosis as well as gender-specific differences in chronic HBV-infected patients.

To investigate the relationship between the expression of hepatitis B virus (HBV) functional receptor sodium taurocholate cotransporting polypeptide (NTCP) with disease progression and gender-specific differences in chronic HBV-infected patients. Liver samples were collected from chronic HBV-infected patients who underwent percutaneous liver biopsy or liver surgery. HBV DNA levels and the mRNA and protein expression levels of NTCP in liver tissues were determined.

[Prenatal diagnosis and outcome of pregnancy for women with high risks by screening of fetal free DNA from peripheral blood samples].

Objective: To analyze the results of prenatal diagnosis and outcome of pregnancy for women with a high risk for fetal aneuploidies.

Methods: A total of 747 cases of prenatal diagnosis by amniocentesis due to high risks by non-invasive prenatal testing (NIPT) were selected from January 2015 to March 2022 in the Drum Tower Hospital Affiliated to Nanjing University Medical School. The amniotic fluid samples were subjected to chromosomal karyotyping and/or chromosomal microarray analysis.

Two genetic variants in the SRD5A2 gene are found to be associated with sex differences in the disease characteristics of patients with chronic hepatitis B virus infection.

Background: To examine the expression characteristics of single nucleotide polymorphisms (SNPs) in the SRD5A2 gene and investigate their potential association with differences in the clinical characteristics between sexes in patients with chronic hepatitis B virus (HBV) infection.

Methods: A total of 30 loci in six genes primarily involved in the metabolism and signaling of sex hormones/sex hormone receptors, namely AKR1C2, AKR1C3, HSD17B6, SRD5A1, SRD5A2, and ESR1, were genotyped in 1007 patients from eight counties (cities) in Northeastern China with chronic HBV infection and 1040 healthy controls, and their association with viral replication characteristics and the differences in disease severity between sexes was assessed. Western blotting was conducted to determine the hepatic SRD5A2 protein level and its relationship with the inflammatory activity and fibrosis degree in male and female patients.

Noninvasive screening of fetal RHD genotype in Chinese pregnant women with serologic RhD-negative phenotype.

Background: Noninvasive fetal RHD genotyping has been provided to nonimmunized RhD-negative pregnant women to guide anti-D prophylaxis. Among the Chinese, more than 30% of the RhD-negative phenotype is associated with variant RHD alleles, which would limit the accuracy of fetal RHD status prediction; thus, more targeting and proper programs need to be developed.

Study Design And Methods: Fluorescence quantitative polymerase chain reaction PCR (qPCR) or Sanger sequencing on all RHD exons was used to detect maternal RHD genotypes.

Metabolic disorders induced by PNPLA3 and TM6SF2 gene variants affect chronic kidney disease in patients infected with non-genotype 3 hepatitis C virus.

Background: Patients with chronic hepatitis C virus (HCV) infections differ in their risk for metabolic disorders and chronic kidney disease (CKD). The aim of this study was to investigate the effect of metabolic disorders induced by genetic factors on CKD in HCV-infected patients.

Methods: Patients with chronic non-genotype 3 HCV infection with or without CKD were examined.

[Analysis of genetic etiology and related factors in 1 065 women with spontaneous abortions].

Objective: To explore the genetic etiology and related factors in 1 065 women with spontaneous abortions.

Methods: All patients have presented at the Center of Prenatal Diagnosis of Nanjing Drum Tower Hospital from January 2018 to December 2021. Chorionic villi and fetal skin samples were collected, and the genomic DNA was assayed by chromosomal microarray analysis (CMA).

Elevated Placental microRNA-155 Is a Biomarker of a Preeclamptic Subtype.

Background: Preeclampsia is a complicated syndrome with marked heterogeneity. The biomarker-based classification for this syndrome is more constructive to the targeted prevention and treatment of preeclampsia. It has been reported that preeclamptic patients had elevated microRNA-155 (miR-155) in placentas or circulation.

Signal transducer and activator of transcription 3 cooperates with androgen receptor/cell cycle-related kinase signalling pathway in the progression of hepatitis B virus infection and gender differences.

The study aimed to investigate the role of androgen receptor (AR)/cell cycle-related kinase (CCRK) signalling pathway in chronic hepatitis B virus (HBV) infection and gender differences, and the contribution of AR regulatory factor signal transducer and activator of transcription 3 (STAT3) in it. AR, CCRK, and phosphorylated STAT3 expressions in liver tissues of chronic HBV-infected patients and non-HBV controls were determined by western blot and compared between genders. The relationships of expression levels with serum HBV DNA levels, liver inflammation activity, and fibrosis score were analysed in chronic HBV-infected patients.

Screening for spontaneous preterm birth by cervical length and shear-wave elastography in the first trimester of pregnancy.

Background: First-trimester cervical length for the prediction of spontaneous preterm delivery remains controversial. A better method for the measurement of the first-trimester cervical length and additional cervical ultrasound parameters for the identification of women at high risk for spontaneous preterm delivery are needed.

Objective: This study aimed to compare the predictive value of cervical length measured by 2 different methods in the first trimester of pregnancy to predict spontaneous preterm delivery and to explore the potential value of first-trimester cervical shear-wave elastography for the prediction of spontaneous preterm delivery.

[Practice of clinical application of noninvasive prenatal testing based on cell-free fetal DNA].

Objective: To assess the application value of noninvasive prenatal testing (NIPT) based on cell-free fetal DNA.

Methods: The results of 2777 cases of basic and extended NIPT were retrospectively analyzed. The clinical data and outcome of pregnancy were analyzed, in addition with the diagnosis rate and testing efficiency.

The role of junctional adhesion molecule-C in trophoblast differentiation and function during normal pregnancy and preeclampsia.

Introduction: Junctional adhesion molecule-C (JAM-C) is an important regulator of many physiological processes, ranging from maintenance of tight junction integrity of epithelia to regulation of cell migration, homing and proliferation. Preeclampsia (PE) is a trophoblast-related syndrome with abnormal placentation and insufficient trophoblast invasion. However, the role of JAM-C in normal pregnancy and PE pathogenesis is unknown.

[Analysis to the failure rate and causes of noninvasive prenatal testing based on high-throughput sequencing].

Objective: To analyze the cause and pregnancy outcome for non-reportable cell-free DNA (cfDNA) results during non-invasive prenatal testing (NIPT).

Methods: cfDNA was extracted from maternal plasma from 5898 singleton pregnancies at 12 to 22 gestational weeks and underwent NIPT with strict quality control standards. For those with sub-standard results, redraw or invasive prenatal procedures were recommended.

Cell-free DNA test for pathogenic copy number variations: A retrospective study.

Objective: To evaluate the detection rate (DR) by prenatal cell-free DNA test for pathogenic copy number variations (CNVs)＞2 Mb among pregnancies with fetal ultrasound abnormalities.

Materials And Methods: This was a retrospective study on 29 pregnant women with fetuses diagnosed as microdeletion/microduplication syndromes by prenatal chromosome microarray analysis (CMA). Cell-free DNA from the maternal plasma was sequenced on the NextSeq CN500 sequencer.

Placenta-derived IL-32β activates neutrophils to promote preeclampsia development.

Immune activation at the maternal-fetal interface is a main pathogenic factor of preeclampsia (PE). Neutrophils (PMNs) are activated in PE patients, but the mechanism and consequences of PMN activation need to be further explored. Here, we demonstrated that interleukin-32 (IL-32) expression was significantly upregulated in syncytiotrophoblasts (STBs) and that IL-32β was the major isoform with increased expression in the placenta of severe PE (sPE) patients.

Prediction of spontaneous preterm birth by cervical length in the first trimester of pregnancy: Comparison of two measurement methods.

Introduction: Our objectives were to compare the single-line and two-line methods of cervical length measurement in the first trimester of pregnancy and to evaluate the potential value of the first trimester cervical length measured by the two methods in predicting spontaneous preterm birth.

Material And Methods: This was a prospective study in singleton pregnancies at 11+0 to 13+6 weeks of gestation. Cervical length was measured by two methods: (i) a linear distance between the two ends of the glandular area around the endocervical canal (single-line method) and (ii) a sum of a linear distance from the internal os to the greatest cervical curvature and a linear distance from this point of the cervix to the external os (two-line method).

Prenatal features of 17q12 microdeletion and microduplication syndromes: A retrospective case series.

Objective: To present the experience on prenatal features of 17q12 microdeletion and microduplication syndromes.

Materials And Methods: Prenatal chromosomal microarray analysis (CMA) were conducted between January 2015 and December 2018 at a single Chinese tertiary medical centre. Information of cases identified with 17q12 microdeletion or microduplication syndromes were retrospectively collected.

Graded exercise test with or without load carriage similarly measures maximal oxygen uptake in young males and females.

The aim of this was to compare the effects of the graded exercise test (GXT) with or without load carriage on maximal oxygen uptake ([Formula: see text]) heart rate (HR), and expired ventilation ([Formula: see text]) and blood lactate in young healthy males and females. The study included ten females (age:20.2±0.

Shear-wave sonoelastographic assessment of cervix in pregnancy.

Introduction: The aim of this study was to investigate the differences in shear-wave sonoelastography (SWS) scores between the different parts of cervix, explore the association between the cervical SWS scores with cervical length and evaluate repeatability of the measurement of cervical SWS scores.

Material And Methods: This was a prospective study performed in women with singleton pregnancy at 11-13 (n = 676), 16-20 (n = 364), 21-24 (n = 338) and 28-32 weeks (n = 304). The SWS scores were obtained at the inner, middle and external parts of the cervix, using a transvaginal ultrasound approach.