1.Incidental findings from cell-free fetal DNA-based non-invasive prenatal testing: Research progress on maternal tumors.
Zhuangping ZHANG ; Xinni SHU ; Yaping HOU
Chinese Journal of Medical Genetics 2026;43(4):301-306
Non-invasive prenatal testing (NIPT) based on fetal free DNA is a non-invasive technique to screen for common fetal aneuploidies by analyzing cell-free fetal DNA (cffDNA) in the peripheral blood of pregnant women. This technique has opened a new era of prenatal screening for its high safety and reliability. In recent years, it has been shown that NIPT can not only screen for fetal aneuploidies, but may also reveal maternal genomic abnormalities. The incidental detection of maternal tumors has aroused widespread concern in the clinical settings. The aim of this review is to systematically summarize the research progress of NIPT technique in incidental detection of maternal tumors, and to discuss its clinical significance, technical challenges, and future development direction. It has been found that multiple chromosome aneuploidies (MCAs) in NIPT detection is one of the important biomarkers suggesting occult maternal malignant tumors. In this paper, the relevant progress of NIPT technique in the incidental discovery of maternal tumors were reviewed in order to provide a reference for individualized and standardized application of NIPT technique in maternal health monitoring.
Humans
;
Female
;
Pregnancy
;
Cell-Free Nucleic Acids/blood*
;
Prenatal Diagnosis/methods*
;
Incidental Findings
;
Neoplasms/genetics*
;
Noninvasive Prenatal Testing/methods*
;
Aneuploidy
;
Fetus/metabolism*
2.Analysis of clinical value of platelet antibody screening in 95 987 inpatients.
Ping CHEN ; Yang SUN ; Xiaoyue CHU ; Fenfang TIAN ; Yingqun YANG ; Wenhua WANG ; Jiameng NIU ; Boya ZHAO ; Jingyan CHANG ; Jiangcun YANG ; Chaofeng MA
Chinese Journal of Cellular and Molecular Immunology 2025;41(2):143-147
Objective To analyze the distribution of platelet antibodies in hospitalized patients and explore the clinical significance of platelet antibody detection. Methods A total of 95 987 hospitalized patient cases from a tertiary hospital in Xi'an from April 1, 2021 to December 31, 2023 were collected. Platelet antibodies were detected by solid-phase agglutination method. Statistical analysis was performed on variables including gender, age, blood type, department, history of blood transfusion, pregnancy history, and disease type. Results Among 95 987 hospitalized patients, the positive rate of platelet antibody detection reached 4.35%. The positive rate of platelet antibodies in female hospitalized patients (5.29%) was higher than that in male patients (3.31%), and the difference was statistically significant (x2=224.124). The positive rate of platelet antibodies in those with pregnancy history (7.92%) was higher than that in those without pregnancy history (4.19%), and the difference was significant (x2=292.773). Similarly, the positive rate of platelet antibodies in those with transfusion history (7.79%) was higher than that in those without transfusion history (3.97%), and the difference was significant (x2=300.209). There was a significant correlation between the positive rate of platelet antibodies and the number of pregnancies (x2=91.061). Conclusion The positive rate of platelet antibodies in 95 987 inpatient cases was 4.35%. The positive rate of platelet antibodies had a close relationship with a history of blood transfusions and pregnancies, and it increased with the number of pregnancies. For patients with multiple transfusion histories and pregnancy histories, screening for platelet antibodies holds significant diagnostic value.
Humans
;
Female
;
Male
;
Adult
;
Middle Aged
;
Blood Platelets/immunology*
;
Inpatients
;
Aged
;
Pregnancy
;
Young Adult
;
Adolescent
;
Aged, 80 and over
;
Autoantibodies/blood*
3.The effects of baicalin on blood lipid metabolism and immune function in rats with gestational diabetes mellitus based on RhoA/ROCK pathway.
Yao LU ; Lin SHI ; Le WANG ; Xiaoli LUAN
Chinese Journal of Cellular and Molecular Immunology 2025;41(11):992-999
Objective To investigate the effect and mechanism of baicalin on blood lipid metabolism and immune function in rats with gestational diabetes mellitus (GDM). Methods Female rats fed with high-fat and high-sugar diet and male rats fed with ordinary diet were caged together to prepare pregnant rats, and the GDM rat model was established by intraperitoneal injection of streptozotocin (35 mg/kg). GDM rats were randomly divided into a model group, a fasudil (FA) (RhoA/RocK inhibitor) group (10 mg/kg), low-dose (100 mg/kg) and high-dose (200 mg/kg) baicalin groups, and a high-dose baicalin combined with LPA (RhoA/RocK activator) group (200 mg/kg baicalin+1 mg/kg LPA ), with 12 rats in each group. Another 12 pregnant rats fed with high-fat and high-sugar diet were selected as the control group. After 2 weeks of corresponding drug intervention in each group, the level of fasting blood glucose (FBG) was detected by blood glucose meter. The level of fasting insulin (FINS) in serum was detected by ELISA, and the insulin resistance index (HOMA-IR) was calculated. The levels of alanine aminotransferase (ALT), aspartate aminotransferase (AST), total cholesterol (TC), triglyceride (TG), low density lipoprotein cholesterol (LDL-C), high density lipoprotein cholesterol (HDL-C) in serum, and the levels of immunomodulator tumor necrosis factor α (TNF-α), interleukin 6 (IL-6), and IL-10 in peripheral blood were detected by the kit. The histopathological changes of liver were observed by HE staining. The proportion of T lymphocyte subsets in peripheral blood was detected by flow cytometry. The mRNA and protein expressions of Ras homolog gene family member A (RhoA), Rho associated coiled-coil forming protein kinase 1 (ROCK1), and ROCK2 in liver tissue were detected by real-time quantitative PCR and Western blot. Results Compared with the control group, the levels of FBG, FINS, HOMA-IR, ALT, AST, TG, TC, and LDL-C in serum, the levels of TNF-α, IL-6, the percentage of CD8+T cell in peripheral blood, and the mRNA and protein expression of RhoA, ROCK1, and ROCK2 in liver tissue in the model group were higher; the level of HDL-C in serum, the percentage of IL-10 levels, CD3+T cells, CD4+T cell, and CD4+T/CD8+T ratio in peripheral blood were lower. Compared with the model group, the levels of FBG, FINS, HOMA-IR, ALT, AST, TG, TC, and LDL-C in serum, the levels of TNF-α, IL-6, the percentage of CD8+T cell in peripheral blood, and the mRNA and protein expression of RhoA, ROCK1, and ROCK2 in liver tissue in the the FA group and low-dose and high-dose baicalin groups were lower; the level of HDL-C in serum, IL-10 level, the percentage of CD3+T cells, CD4+T cell, and CD4+T/CD8+T ratio in peripheral blood were higher. LPA could obviously weaken the improvement effects of baicalin on blood lipid metabolism and immune function in GDM rats. Conclusion Baicalin may improve blood lipid metabolism and immune function in GDM rats by inhibiting the RhoA/ROCK pathway.
Animals
;
Female
;
Diabetes, Gestational/metabolism*
;
Pregnancy
;
rho-Associated Kinases/genetics*
;
Flavonoids/pharmacology*
;
Rats
;
rhoA GTP-Binding Protein/genetics*
;
Lipid Metabolism/drug effects*
;
Male
;
Signal Transduction/drug effects*
;
Rats, Sprague-Dawley
;
Blood Glucose/metabolism*
;
Lipids/blood*
;
Tumor Necrosis Factor-alpha/blood*
;
rho GTP-Binding Proteins
4.Analysis of the Influencing Factors of ABO Blood Group Antibody Origin and Titer in Neonates.
Meng-Jiao YANG ; Li ZHANG ; Yu ZHOU ; Chun YANG ; Xiang SHI
Journal of Experimental Hematology 2025;33(2):520-525
OBJECTIVE:
To analyze the origin and influencing factors the titer of ABO blood group antibody in neonates.
METHODS:
A total of 303 newborn blood samples collected in our hospital from August 2023 to March 2024 were selected for the detection of ABO blood group settings and the determination of the total titers of IgG and IgM blood group antibodies in plasma. IgM antibodies were treated with dithithreitol (DTT) to determine the titers of IgG antibodies. The total titer of the blood group antibody was compared with that of the IgG antibody. The clinical data of mothers and newborns were collected, and the correlation between the antibody titer and these clinical data was analyzed.
RESULTS:
Among the 303 newborn specimens, 14 cases (4.62%) were identified to possess blood group antibodies. The influence of the maternal ABO blood group on the generation of high-potency blood group antibodies in newborns was observed to follow the order of O>B>A>AB, with a significant statistical difference ( P < 0.01). Of the 123 (40.59%) newborns born to mothers of type O, 121 (98.37%) had blood group antibody titers > 2. Of the 20 (6.60%) newborns born to mothers of type AB, all 20 (100.00%) had blood group antibody titers < 2. Among 89 (29.37%) mothers of type A and 71 (23.43%) mothers of type B, the titer of 100% newborn blood group antibody was less than 2, when the newborn blood group was incompatible with the mother's blood group; the titer of the newborn blood type antibody was higher or lower, when the newborn blood type was compatible with the mother's blood type. The titer of the newborn blood group antibodies is related to the number of pregnancies of the mothers and has no association with other clinical data (such as the mother's number of obortions), the number of production, fetal gestation age.
CONCLUSION
The majority of ABO blood group antibodies in neonates are IgG antibodies from the mothers, and few are produced by the neonates themselves. In some neonates, IgG anti-A and/or anti-B can agglutinate with anti-stereotyped cells at room temperature. The maternal ABO blood type is the primary factor influencing the titer of the newborn blood type. The number of maternal pregnancies is a factor affecting the high titer ABO blood group antibodies in newborns.
Humans
;
Infant, Newborn
;
ABO Blood-Group System/immunology*
;
Female
;
Immunoglobulin G/blood*
;
Immunoglobulin M/blood*
;
Pregnancy
;
Blood Grouping and Crossmatching
5.Genotyping and Transfusion Strategy for Pregnant Patients with ABO Blood Typing Difficulties.
Chen-Chen FENG ; Qing CHEN ; Xiao WEI ; Li-Li SHI ; Ruo-Yang ZHANG ; Fang ZHAO ; Jian-Yu XIAO
Journal of Experimental Hematology 2025;33(2):538-545
OBJECTIVE:
To identify the blood type of specimens from pregnant patients with difficult-to-type ABO status, and to guide clinical safe blood transfusion.
METHODS:
The specimens from 36 pregnant patients with suspicious ABO blood group were collected. These specimens were submitted by clinical institutions from various regions to our center's genetic testing platform from January 2021 to December 2022. The blood group phenotypes and genotypes of these specimens were identified by serological method and genetic sequencing.
RESULTS:
A total of 20 ABO subtypes were detected in the 36 samples, including 10 cases of BA/O, 3 cases of cisAB/O, 2 cases of A/Bw, 1 case of A2/B, 1 case of Aw/B, 1 case of BA/B, 1 case of BA/A, and 1 case of Bw/O. Additionally, 4 cases were identified as para-Bombay blood type, and no specific variations associated with abnormal phenotypes were found in the remaining 12 cases.
CONCLUSION
ABO subtypes interfere with ABO blood group identification in pregnant patients, and pregnancy status also affects blood group phenotype. Accurate determination of blood group genotype by genetic sequencing technology can guide clinical blood transfusion for pregnant patients, and ensure maternal and infant safety.
Humans
;
Female
;
Pregnancy
;
ABO Blood-Group System/genetics*
;
Blood Grouping and Crossmatching
;
Blood Transfusion
;
Genotype
;
Phenotype
6.Association between maternal blood lead levels and prevalence of dental caries in the primary dentition of children.
Yoshie NAGAI-YOSHIOKA ; Ryota YAMASAKI ; Reiko SUGA ; Mayumi TSUJI ; Reiji FUKANO ; Kiyoshi YOSHINO ; Seiichi MOROKUMA ; Wataru ARIYOSHI ; Masanori IWASAKI
Environmental Health and Preventive Medicine 2025;30():92-92
BACKGROUND:
Dental caries is a chronic childhood disease and one of the most prevalent public health problems worldwide. Lead is a heavy metal that is taken up by the teeth and bones. However, the association between lead exposure during pregnancy, when the tooth germs are formed, and the prevalence of dental caries in the primary dentition remains unclear. This study aimed to examine the association between maternal blood lead levels and the prevalence of dental caries in the primary dentition of children.
METHODS:
This cross-sectional study was conducted as an Adjunct Study to the Japan Environment and Children's Study (JECS), which is an ongoing nationwide birth-cohort study. Among children participating in the JECS at the University of Occupational and Environmental Health Sub-Regional Center, those aged 7-8 years underwent oral examination and questionnaire administration. The dft (i.e., sum of the number of decayed and filled primary teeth) was then determined. The dft numerically expresses the dental caries prevalence in the primary dentition (larger value indicates more prevalent dental caries). Poisson regression analyses with robust standard errors were performed to evaluate the association between maternal blood lead levels during pregnancy, measured using frozen samples, and the dft.
RESULTS:
The study included 139 children, of whom 54.7% were girls, and 89.2% were 7 years old. The median maternal blood lead level was 6.1 ng/g (25-75 percentile, 5.0-7.3). The median dft was 0 (25-75 percentile, 0-4). After adjusting for covariates including age, sex, and oral health status and behavior, maternal blood lead levels were significantly associated with increased dft (prevalence ratio, 1.6; 95% confidence interval, 1.3-1.8; per one standard deviation increase in natural log-transformed maternal blood lead levels).
CONCLUSIONS
This study found an association between maternal blood lead levels and the prevalence of dental caries in the primary dentition of children aged 7-8 years. Maternal exposure to lead during mid- to late-term pregnancy may affect the caries susceptibility of children after birth.
Humans
;
Lead/blood*
;
Female
;
Dental Caries/epidemiology*
;
Prevalence
;
Tooth, Deciduous
;
Male
;
Japan/epidemiology*
;
Child
;
Cross-Sectional Studies
;
Pregnancy
;
Adult
;
Maternal Exposure/adverse effects*
;
Environmental Pollutants/blood*
;
Prenatal Exposure Delayed Effects/epidemiology*
7.Efficacy of single and double platelet-rich plasma treatment for diminished ovarian reserve.
Enuo PENG ; Miao AI ; Xiaojun TAN ; Xingping ZHAO ; Dabao XU
Journal of Central South University(Medical Sciences) 2025;50(1):45-51
OBJECTIVES:
Platelet-rich plasma (PRP) treatment has been reported to improve ovarian function in women, but the relationship between the dose and frequency of PRP treatment and its therapeutic effect remains unclear. This study aims to evaluate the efficacy of single and double PRP treatments for diminished ovarian reserve (DOR).
METHODS:
A total of 65 patients treated at the Reproductive Center of Xiangtan Central Hospital from September 2020 to October 2022 were randomly divided into 4 groups: A single PRP treatment group (21 patients, PRP treatment once), a double PRP treatment group (15 patients, PRP treatment twice), a blank control group (15 patients), and an artificial cycle control group (14 patients, treated with estrogen and progesterone). The differences in baseline follicle-stimulating hormone (FSH), antral follicle count (AFC), ovarian volume, number of oocytes retrieved, number of good quality embryos, and pregnancy outcomes before and after treatment were compared among the 4 groups.
RESULTS:
Compared to before treatment, both single and double PRP treatment groups showed a significant reduction in FSH, and an increase in AFC, ovarian volume, numbers of oocytes retrieved, and number of MII oocytes (all P<0.05). Compared to the blank control group, the single and double PRP groups showed a decrease in FSH, with an increase in AFC, number of oocytes retrieved, and number of MII oocytes (all P<0.05). The rates of good quality embryos, clinical pregnancy rate, and live birth rate in the single and double PRP groups were higher than those in the blank control group and artificial cycle control groups, but the differences were not statistically significant (all P>0.05). Compared to the single PRP treatment group, the double PRP group had lower FSH and higher AFC, but the differences were not statistically significant (both P>0.05).
CONCLUSIONS
Both single and double PRP ovarian injections can effectively improve ovarian reserve function in DOR patients and enhance ovarian response. Compared to single PRP ovarian injection, double PRP ovarian injection shows a trend of better improvement in ovarian reserve function.
Humans
;
Female
;
Platelet-Rich Plasma
;
Ovarian Reserve/physiology*
;
Adult
;
Pregnancy
;
Follicle Stimulating Hormone/blood*
;
Pregnancy Rate
;
Ovary
;
Ovulation Induction/methods*
;
Ovarian Follicle
;
Oocyte Retrieval
8.Atypical placental site nodules: Five cases and literature review.
Yifu HE ; Wenqing YANG ; Yu ZHANG
Journal of Central South University(Medical Sciences) 2025;50(1):99-104
Atypical placental site nodules (APSN) are a rare form of trophoblastic disease in pregnancy. There is limited research on APSN, and treatment methods are controversial, with unclear prognosis. This study collected clinical and prognostic data of 5 patients diagnosed with APSN at Xiangya Hospital of Central South University from June 2008 to June 2023, aiming to provide a better understanding of the prognosis of APSN patients and offer scientific evidence for clinical treatment. The average age of the 5 APSN patients was 32.60 years, and all patients underwent dilation and curettage or hysteroscopic surgery or hysteroscopic surgery without hysterectomy. Except for one patient who was lost to follow-up after 30 days, the remaining 4 patients were followed up for 1.36 to 4.61 years. During the follow-up, gynecological ultrasound did not show abnormalities, and serum human chorionic gonadotropin (HCG) tests were negative, with no evidence of malignancy. A search of both English and Chinese databases yielded 8 articles reporting the diagnosis, treatment, and follow-up outcomes of APSN, with 37 cases cumulatively followed up. Among them, 2 (5.41%) cases developed epithelial trophoblastic tumors or placental site trophoblastic tumors during follow-up, but there is insufficient evidence to determine whether these tumors directly originated from APSN or were secondary to APSN. Currently, there is no direct evidence suggesting that APSN has the potential for malignant transformation. Patients with APSN who have completed their childbearing may consider preserving their uterus, but close follow-up is needed to further evaluate the prognosis.
Humans
;
Female
;
Pregnancy
;
Adult
;
Trophoblastic Tumor, Placental Site/pathology*
;
Uterine Neoplasms/diagnosis*
;
Prognosis
;
Dilatation and Curettage
;
Chorionic Gonadotropin/blood*
9.BTVT ameliorates offspring blood-brain barrier damage induced by prenatal and lactational neodymium oxide exposure via the gut-brain axis.
Xiaoyan DU ; Xiaocheng GAO ; Jing CAO ; Xin ZHAO ; Zhi HUO ; Shaoqing ZHAO ; Qingqing LIANG ; Lei GAO ; Yang DENG
Journal of Central South University(Medical Sciences) 2025;50(4):615-624
OBJECTIVES:
Exposure to rare earth elements (REEs) has been linked to various systemic diseases, but their impact on the offspring blood-brain barrier (BBB) via the gut-brain axis remains unclear. This study aims to investigate the effects of maternal exposure to neodymium oxide (Nd2O3) on the BBB integrity of offspring rats, and to evaluate the potential protective role of bifidobacterium tetrad viable tablets (BTVT) against Nd2O3-induced intestinal and BBB damage.
METHODS:
Healthy adult SD rats were mated at a 1:1 male-to-female ratio, with the day of vaginal plug detection marked as gestational day 0. A total of 60 pregnant rats were randomly assigned to the following groups: Control, 50 mg/(kg·d) Nd2O3, 100 mg/(kg·d) Nd2O3, 200 mg/(kg·d) Nd2O3, and 200 mg/(kg·d) Nd2O3 + BTVT group. Treatments were administered by daily oral gavage throughout pregnancy and lactation. On postnatal day 21 (weaning), offspring feces, brain, and colon tissues were collected. Hematoxylin and eosin (HE) staining was used to assess structural changes in brain and intestinal tissues. Short-chain fatty acids (SCFAs) in feces were quantified by gas chromatography-mass spectrometry (GC-MS). Evans Blue (EB) dye extravasation assessed BBB permeability. Gene and protein expression levels of tight junction proteins occludin and zonula occludens-1 (ZO-1) were measured by reverse transcription PCR (RT-PCR) and Western blotting (WB), respectively. Neodymium levels in brain tissue were determined via inductively coupled plasma mass spectrometry (ICP-MS).
RESULTS:
HE staining revealed that maternal Nd2O3 exposure caused mucosal edema, increased submucosal spacing, and lymphocyte infiltration in offspring colon, as well as neuronal degeneration and vacuolization in brain tissue. BTVT intervention alleviated these changes. GC-MS analysis showed that levels of acetic acid, propionic acid, butyric acid, and isobutyric acid significantly decreased, while valeric acid and isovaleric acid increased in offspring of Nd2O3-exposed mothers (P<0.05). BTVT significantly restored levels of acetic, propionic, and isobutyric acids and reduced valeric acid content (P<0.05). EB permeability was significantly elevated in Nd2O3-exposed offspring brains (P<0.05), but reduced with BTVT treatment (P<0.05). RT-PCR and WB showed downregulation of occludin and ZO-1 expression following Nd2O3 exposure (P<0.05), which was reversed by BTVT (P<0.05). ICP-MS results indicated significantly increased brain neodymium levels in offspring from all Nd2O3-exposed groups (P<0.05), while BTVT significantly reduced neodymium accumulation compared to the 200 mg/(kg·d) Nd2O3 group (P<0.05).
CONCLUSIONS
Maternal exposure to Nd2O3 during pregnancy and lactation disrupts intestinal health and BBB integrity in offspring, elevates brain neodymium accumulation, and induces neuronal degeneration. BTVT effectively mitigates Nd2O3-induced intestinal and BBB damage in offspring, potentially through modulation of the gut-brain axis.
Animals
;
Female
;
Blood-Brain Barrier/pathology*
;
Pregnancy
;
Rats, Sprague-Dawley
;
Rats
;
Male
;
Neodymium/toxicity*
;
Prenatal Exposure Delayed Effects/prevention & control*
;
Lactation
;
Maternal Exposure/adverse effects*
;
Brain
10.Single-cell transcriptome analysis reveals abnormal angiogenesis and placentation by loss of imprinted glutaminyl-peptide cyclotransferase.
Jing GUO ; Jihong ZHENG ; Ruixia LI ; Jindong YAO ; He ZHANG ; Xu WANG ; Chao ZHANG
Journal of Zhejiang University. Science. B 2025;26(6):589-608
Imprinted genes play a key role in regulating mammalian placental and embryonic development. Here, we generated glutaminyl-peptide cyclotransferase-knockout (Qpct-/-) mice utilizing the clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated protein 9 (Cas9) platform and identified Qpct as a novel anti-angiogenic factor in regulating mouse placentation. Compared with Qpct+/+ mice, placentae and embryos (Qpct-/+ and Qpct-/-) showed significant overgrowth at embryonic Day 12.5 (E12.5), E15.5, and E18.5. Using single-cell transcriptome analysis of 32 309 cells from Qpct+/+ and Qpct-/- mouse placentae, we identified 13 cell clusters via single-nucleus RNA sequencing (snRNA-seq) (8880 Qpct+/+ and 13 577 Qpct-/- cells) and 20 cell clusters via single-cell RNA sequencing (scRNA-seq) (6567 Qpct+/+ and 3285 Qpct-/- cells). Furthermore, we observed a global up-regulation of pro-angiogenic genes in the Qpct-/- background. Immunohistochemistry assays revealed a notable increase in the number of blood vessels in the decidual and labyrinthine layers of E15.5 Qpct-/+ and Qpct-/- mice. Moreover, the elevation of multiple pairs of ligand-receptor interactions was observed in decidual cells, endothelial cells, and macrophages, promoting angiogenesis and inflammatory response. Our findings indicate that loss of maternal Qpct leads to altered phenotypic characteristics of placentae and embryos and promotes angiogenesis in murine placentae.
Animals
;
Female
;
Pregnancy
;
Mice
;
Placentation/genetics*
;
Single-Cell Analysis
;
Gene Expression Profiling
;
Mice, Knockout
;
Transcriptome
;
Placenta/blood supply*
;
Neovascularization, Pathologic/genetics*
;
Genomic Imprinting
;
Single-Cell Gene Expression Analysis
;
Angiogenesis

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