Prenatal ultrasound diagnosis of fetal maxillofacial teratoma:Two case reports

BACKGROUND Facial teratoma is a rare benign tumor that accounts for about 1.6%of all teratomas and can be diagnosed by prenatal ultrasound(US).The purpose of this report was to describe our experience with the diagnosis of fetal facial teratoma by prenatal US at second trimester to provide a reference for clinical diagnosis of fetal maxillofacial teratoma.CASE SUMMARY We present two cases of patients with abnormal fetal facial findings on US at second trimester of pregnancy in our department.Case 1 was a 31-year-old G3 P1+1 female,with US revealing a heterogeneous echogenicity of 32 mm×20 mm×31 mm on the fetal face,most of it located outside the oral cavity and filling the root of the oral cavity.Case 2 was a 29-year-old G1P0 female,with fetal head and neck US revealing a cystic-solid echo mass measuring 42 mm×33 mm×44 mm,the upper edge of the lesion reaching the palate and filling the oral cavity.The contours of the lesions were visualized using three-dimensional(3D)US imaging.Both patients decided to give up treatment.Biopsies of the lesions were performed after induction of labor,and diagnosed as maxillofacial teratoma.CONCLUSION Fetal maxillofacial teratomas can be diagnosed by US in early pregnancy,allowing parents to expedite treatment decisions.

Prenatal diagnosis of isolated lateral facial cleft by ultrasonography and three-dimensional printing:A case report

BACKGROUND Lateral facial clefts are atypical with a low incidence in the facial cleft spectrum.With the development of ultrasonography(US)prenatal screening,such facial malformations can be detected and diagnosed prenatally rather than at birth.Although three-dimensional US(3DUS)can render the fetus'face via 3D reconstruction,the 3D images are displayed on two-dimensional screens without field depth,which impedes the understanding of untrained individuals.In contrast,a 3D-printed model of the fetus'face helps both parents and doctors develop a more comprehensive understanding of the facial malformation by creating more interactive aspects.Herein,we present an isolated lateral facial cleft case that was diagnosed via US combined with a 3D-printed model.CASE SUMMARY A 31-year-old G2P1 patient presented for routine prenatal screening at the 22nd wk of gestation.The coronal nostril-lip section of two-dimensional US(2DUS)demonstrated that the fetus'bilateral oral commissures were asymmetrical,and left oral commissure was abnormally wide.The left oblique-coronal section showed a cleft at the left oral commissure which extended to the left cheek.The results of 3DUS confirmed the cleft.Furthermore,we created a model of the fetal face using 3D printing technology,which clearly presented facial malformations.The fetus was diagnosed with a left lateral facial cleft,which was categorized as a No.7 facial cleft according to the Tessier facial cleft classification.The parents terminated the pregnancy at the 24th wk of gestation after parental counseling.CONCLUSION In the diagnostic course of the current case,in addition to the traditional application of 2D and 3DUS,we created a 3D-printed model of the fetus,which enhanced diagnostic evidence,benefited the education of junior doctors,improved parental counseling,and had the potential to guide surgical planning.

Usefulness of prenatal magnetic resonance imaging in differential diagnosis of fetal congenital cystic adenomatoid malformation and bronchopulmonary sequestration

BACKGROUND Congenital cystic adenomatoid malformation(CCAM)and bronchopulmonary sequestration(BPS)are the most common lung diseases in fetuses.There are differences in the prognosis and treatment of CCAM and BPS,and the clinical diagnosis and treatment plan is usually prepared prior to birth.Therefore,it is quite necessary to make a clear diagnosis before delivery.CCAM and BPS have similar imaging features,and the differentiation mainly relies on the difference in supply vessels.However,it is hard to distinguish them due to invisible supplying vessels on some images.AIM To explore the application value of magnetic resonance imaging(MRI)in the differential diagnosis of fetal CCAM and BPS.METHODS Data analysis for 32 fetuses with CCAM and 14 with BPS diagnosed by prenatal MRI at Huzhou Maternal and Child Health Care Hospital and Anhui Provincial Children’s Hospital from January 2017 to January 2020 was performed to observe the source blood vessels of lesions and their direction.Pathological confirmation was completed through CT examination and/or operations after birth.RESULTS After birth,31 cases after birth were confirmed to be CCAM,and 15 were confirmed to be BPS.The CCAM group consisted of 21 macrocystic cases and 10 microcystic cases.In 18 cases,blood vessels were visible in lesions.Blood supply of the pulmonary artery could be traced in eight cases,and in 10 cases,only vessels running from the midline to the lateral down direction were observed.No lesions were found in four macrocystic cases and one microcystic case with CCAM through CT after birth;two were misdiagnosed by MRI,and three were misdiagnosed by prenatal ultrasonography.The BPS group consisted of 12 intralobar cases and three extralobar cases.Blood vessels were visible in lesions of nine cases,in four of which,the systemic circulation blood supply could be traced,and in five of which,only vessels running from the midline to the lateral up direction were observed.Three were misdiagnosed by MRI,and four were misdiagnosed by prenatal ultrasonography.CONCLUSION CCAM and BPS can be clearly diagnosed based on the origin of blood vessels,and correct diagnosis can be made according to the difference in the direction of the blood vessels,but it is hard distinguish microcystic CCAM and BPS without supplying vessels.In some CCAM cases,mainly the macrocystic ones,the lesions may disappear after birth.

Confusing finding of quantitative fluorescent polymerase chain reaction analysis in invasive prenatal genetic diagnosis:A case report

BACKGROUND Quantitative fluorescent polymerase chain reaction(QF-PCR)is a rapid prenatal diagnostic method for abnormalities on chromosomes 21,18,and 13 and sex chromosomal aneuploidy.However,the value of QF-PCR in diagnosing chromosomal structural abnormalities is limited.In this article,we report a confusing QF-PCR finding in a pregnant woman who underwent amniocentesis.CASE SUMMARY The short tandem repeat marker AMXY(Xp22.2/Yp11.2)located on the sex chromosome exhibited a trisomic biallelic pattern,indicating that the karyotype of the fetus might be 47,XYY.Chromosome analysis performed on cultured amniocytes showed a normal male karyotype of the fetus.Copy number variation sequencing confirmed a 500 kb duplication at Yp11.2-Yp11.2(chrY:6610001_7110000)and a 250 kb duplication at Yp11.2-Yp11.2(chrY:7110001_7360000).CONCLUSION In conclusion,the comprehensive application of different methods could achieve a higher detection rate and accuracy for the prenatal diagnosis of chromosomal disorders through chromosomal testing.

Targeting CXCR4 and EDN1 for the treatment of recurrent miscarriage using stearic acid from traditional Chinese medicine

Background:Recurrent miscarriage(RM)affects an estimated 1-3%of couples attempting to conceive,and its molecular components stay ineffectively caught on.This study aims to explore potential therapeutic targets for RM by examining gene expression patterns and biological pathways in both mouse and human RM models.Meanwhile,explore relevant traditional Chinese medicine(TCM)components targeting potential therapeutic targets.Methods:We utilized the GSE211251 mouse and the GSE26787 human datasets,employing gene set enrichment analysis and gene metaphysics analysis to examine differentially expressed genes and enriched pathways.Single-cell RNA analysis uncovered cellular heterogeneity and arranged pharmacology-mapped potential drug-target intelligence.We employed molecular docking strategies to assess the affinity of TCM components for key proteins.Results:In the mouse model,genes such as Ly6f1 and Gpr26 were upregulated,while Stc5a and Galca exhibited downregulation.Gene set enrichment analysis identified key pathways,including the tumor necrosis factor-mediated signaling pathway.In human samples,Gene Ontology analysis highlighted processes such as apoptosis and cell adhesion.Single-cell RNA analysis revealed distinct cellular populations between normal and RM samples.Systems pharmacology identified C-X-C motif chemokine receptor 4(CXCR4)and endothelin 1(EDN1)as potential key targets,and molecular docking confirmed that stearic acid from TCM appears to regulate these proteins.Conclusion:This study presents a comprehensive analysis of the genetic and cellular underpinnings of RM,identifying CXCR4 and EDN1 as promising therapeutic targets.Stearic acid from TCM could provide targeted treatment by modulating these key proteins,paving the way for new RM treatment strategies.

Comparison of Nutrition Practices, Knowledge and Exercise between Pregnant Women in China and Zambia

Purpose: The aim of this study is to compare how Chinese and Zambian pregnant women respond to nutrition and exercise. Methods: This is a cross-sectional study with data that was conducted in Chingola City, Zambia, and Hangzhou City, China, using an online survey between September 1, 2023 and February 28, 2024. The subjects were divided into two groups (the China group and the Zambia group) according to their nationality. Results: A total of 210 participants were included through a questionnaire survey, 104 from China and 106 from Zambia. In terms of nutrient supplementation and whether to choose takeout weekly, 100% of Chinese pregnant women chose yes, while 100% of Zambian pregnant women chose no (P 0.05). The proportion of pregnant women in the China group choosing moderate or intense activities was higher than that in the Zambia group. In terms of daily exercise time, the proportion of Chinese pregnant women choosing 13 - 30 minutes or 30 - 60 minutes was significantly higher than that of Zambian pregnant women (P Conclusion: From the findings in our study, it can be observed that although pregnancy is an experience that many women may go through, lifestyle habits during pregnancy can vary from culture to culture or ethnicity.

Prenatal cytogenetic diagnosis study of 2782 cases of high-risk pregnant women

Background Prenatal diagnoses are extremely advantageous for pregnant women with high-risk indicators and can help prevent the birth of malformed infants. However, no large-scale statistical study analyzing the correlation between fetal chromosome disorders and abnormal indicators during pregnancy has been done in China. The objectives of this study were to diagnose and analyze fetal chromosome abnormalities, determine the feasibility of the various prenatal test methods and establish diagnostic guidelines for the early, middle, and late trimesters. Methods From January 2004 to May 2009, 2782 pregnant women at high-risk underwent prenatal diagnoses. Categorized data expressed as either actual counts or percentages were analyzed by the chi-square or Fisher＇s exact test. Chorionic villus sampling was performed in the early-trimester （10-12 weeks of gestation）, amniocentesis in mid-trimester （16-28 weeks of gestation）, and umbilical cord blood collection in mid- or late-trimester （16-37 weeks of gestation）. In 51 cases either autopsy samples from intrauterine fetal deaths or placental tissues from aborted fetuses were tested. Results Chromosomal abnormalities were observed in 3.99% （111/2782） of the samples. Overall, the success rate of cytogenetic analysis for high-risk pregnancy groups was 98.17% （2731/2782）. It was significantly less successful when used to analyze data from the chorionic villus sampling compared with that from amniocentesis and umbilical cord blood （P=-0.000）. Abnormal chromosome carriers had the highest percentage of abnormal chromosomes （67.86%） when compared with chromosomal abnormalities in patients with ultra-sonographic ＂soft markers＂ （11.81%）, advanced maternal age （4.51%） and those who had positive serum screening results （P=-0.000）. Conclusions Invasive prenatal diagnostic techniques are feasible tools for confirming fetal chromosomal abnormalities. Abnormal chromosomes detected in one of the parents carrying abnormal chromosome, ultrasound soft markers, advanced maternal age or positive serum screening results were associated with a higher frequency of fetal genetic diseases.

Overexpression of DNA methyltransferase 1 and its biological significance in primary hepatocellular carcinoma

AIM： To explore the relationship between DNA methyltransferase 1 （DNMT1） and hepatitis B virus （HBV）-related hepatocellular carcinoma （HCC） and its biological significance in primary HCC. METHODS： We carried out an immunohistochemical examination of DNMT1 in both HCC and paired nonneoplastic liver tissues from Chinese subjects. DNMT1 mRNA was further examined in HCC cell lines by real-time PCR. We inhibited DNMT1 using siRNA and detected the effect of depletion of DNMT1 on cell proliferation ability and cell apoptosis in the HCC celt line SMMC-7721. RESULTS： DNMT1 protein expression was increased in HCCs compared to histologically normal nonneoplastic liver tissues and the incidence of DNMT1 immunoreactivity in HCCs correlated significantly with poor tumor differentiation （P = 0.014）. There were more cases with DNMT1 overexpression in HCC with HBV （42.85%） than in HCC without HBV （28.57%）. However, no significant difference in DNMT1 expression was found in HBV-positive and HBV-negative cases in the Chinese HCC group. There was a trend that DNMT1 RNA expression increased more in HCC cell lines than in pericarcinoma cell lines and normal liver cell lines. In addition, we inhibited DNMT1 using siRNA in the SMMC-7721 HCC cell line and found depletion of DNMT1 suppressed cells growth independent of expression of proliferating cell nuclear antigen （PCNA）, even in HCC cell lines where DNMT1 was stably decreased. CONCLUSION： The findings implied that DNMT1 plays a key role in HBV-retated hepatocellular tumorigenesis. Depletion of DNMT1 mediates growth suppression in SMMC-7721 cells.

Missense mutation in DYNC1H1 gene caused psychomotor developmental delay and muscle weakness:A case report

BACKGROUND The DYNC1H1 gene encodes a part of the dynamic protein,and the protein mutations may further affect the growth and development of neurons,resulting in degeneration of anterior horn cells of the spinal cord,and a variety of clinical phenotypes finally resulting in axonal Charcot-Marie-Tooth disease type 20(CMT20),mental retardation 13(MRD13)and spinal muscular atrophy with lower extremity predominant 1(SMA-LED).The incidence of the disease is low,and it is difficult to diagnose,especially in children.Here,we report a case of DYNC1H1 gene mutation and review the related literature to improve the pediatrician’s understanding of DYNC1H1 gene-related disease to make an early correct diagnosis and provide better services for children.CASE SUMMARY A 4-mo-old Chinese female child with adducted thumbs,high arch feet,and epileptic seizure presented slow response,delayed development,and low limb muscle strength.Electroencephalogram showed abnormal waves,a large number of multifocal sharp waves,sharp slow waves,and multiple spasms with a series of attacks.High-throughput sequencing and Sanger sequencing identified a heterozygous mutation,c.5885 G>A(p.R1962H),in the DYNC1H1 gene(NM 001376)of the proband,which was not identified in her parents.Combined with the clinical manifestations and pedigree of this family,this mutation is likely pathogenic based on the American Academy of Medical Genetics and Genomics guidelines.The child was followed when she was 1 year and 2 mo old.The magnetic resonance imaging result was consistent with the findings of white matter myelinated dysplasia and congenital giant gyrus.The extensive neurogenic damage to the extremities was considered,as the results of electromyography showed that the motor conduction velocity and sensory conduction of the nerves of the extremities were not abnormal,and the degree of fit of the children with severe contraction was poor.At present,the child is 80 cm in length and 9 kg in weight,with slender limbs and low muscle strength,and still does not raise her head.She cannot sit or speak.Speech,motor,and mental development was significantly delayed.There is still no effective treatment for this disease.CONCLUSION We herein report a de novo variant of DYNC1H1 gene,c.5885 G>A(p.R1962H),leading to overlapping phenotypes(seizure,general growth retardation,and muscle weakness)of CMT20,MRD13,and SMA-LED,but there is no effective treatment for such condition.Our case enriches the DYNC1H1 gene mutation spectrum and provides an important basis for clinical diagnosis and treatment and genetic counseling.

Mutation analysis and prenatal diagnosis of EXT1 gene mutations in Chinese patients with multiple osteochondromas

Background Multiple osteochondromas （MO）, an inherited autosomal dominant disorder, is characterized by the presence of multiple exostoses on the long bones. MO is caused by mutations in the EXT1 or EXT2 genes which encode glycosyltransferases implicated in heparin sulfate biosynthesis.Methods In this study, efforts were made to identify the underlying disease-causing mutations in patients from two MO families in China.Results Two novel EXT1 gene mutations were identified and no mutation was found in EXT2 gene. The mutation c.497T〉A in exon 1 of the EXT1 gene was cosegregated with the disease phenotype in family 1 and formed a stop codon at amino acid site 166. The fetus of the proband was diagnosed negative. In family 2, the mutation c. 1430-1431delCC in exon 6 of the EXT1 gene would cause frameshift and introduce a premature stop codon after the reading frame being open for 42 amino acids. The fetus of this family inherited this mutation from the father.Conclusions Mutation analysis of two MO families in this study demonstrates its further application in MO genetic counseling and prenatal diagnosis.

Spectrum of thalassemia mutations in fetuses of Han and Li ethinicities in Hainan province, China

Objective: To analyze the frequency and spectrum of thalassemia mutations in amniotic fluid samples collected from Han and Li people in Hainan province of China.Methods: We carried out a retrospective analysis on prenatal diagnosis of amniotic fluid samples collected from pregnant women who may have next generation with high risks of medium or severe thalassemia between 2005 and 2016. Diverse fetal thalassemia genotypes and mutated alleles in Han and Li people were analyzed and cmpared. Results: We examined 536 amniotic fluid samples from Han people and 588 from Li people, among which 406 Han and 500 Li samples were found to carry at least one thalassemia gene mutation, with a detection rate of 75.75% and 85.03%, respectively. Among all α-and β-thalassemia mutant alleles detected, the most frequently found mutations in Han and Li samples were SEA-type of α-thalassemia and 41/42(–CTTT) of β-thalassemia, respectively. A total of 75 severe thalassemia cases were identified in Han samples and 53 in Li samples. In most of these severe cases, parents chose to terminate pregnancy after being informed of thalassemia-related risks. Conclusions: The thalassemia mutations shows ethnic and area specificity, and that prenatal diagnosis for high-risk thalassemia carrier pregnant women is an efficient approach to prevent and control the occurrence of severe thalassemia in the high-prevalence areas.

Ammonia promotes the proliferation of bone marrow-derived mesenchymal stem cells by regulating the Akt/mTOR/S6k pathway

Ammonia plays an important role in cellular metabolism.However,ammonia is considered a toxic product.In bone marrow-derived mesenchymal stem cells,multipotent stem cells with high expression of glutamine synthetase(GS)in bone marrow,ammonia and glutamate can be converted to glutamine via glutamine synthetase activity to support the proliferation of MSCs.As a major nutritional amino acid for biosynthesis,glutamine can activate the Akt/mTOR/S6k pathway to stimulate cell proliferation.The activation of mTOR can promote cell entry into S phase,thereby enhancing DNA synthesis and cell proliferation.Our studies demonstrated that mesenchymal stem cells can convert the toxic waste product ammonia into nutritional glutamine via GS activity.Then,the Akt/mTOR/S6k pathway is activated to promote bone marrow-derived mesenchymal stem cell proliferation.These results suggest a new therapeutic strategy and potential target for the treatment of diseases involving hyperammonemia.

A novel mutation in ROR2 led to the loss of function of ROR2 and inhibited the osteogenic differentiation capability of bone marrow mesenchymal stem cells(BMSCs)

Receptor tyrosine kinase-like orphan receptor 2(ROR2)has a vital role in osteogenesis.However,the mechanism underlying the regulation of ROR2 in osteogenic differentiation is still poorly comprehended.A previous study by our research group showed that a novel compound heterozygous ROR2 variation accounted for the autosomal recessive Robinow syndrome(ARRS).This study attempted to explore the impact of the ROR2:c.904C>T variant specifically on the osteogenic differentiation of BMSCs.Methods:Coimmunoprecipitation(CoIP)-western blotting was carried out to identify the interaction between ROR2 and Wnt5a.Double-immunofluorescence staining was used for determining the expressions and co-localization of ROR2 and Wnt5a in bone marrow mesenchymal stem cells(BMSCs).Western blot(WB)analysis and quantitative reverse transcription polymerase chain reaction(RT-qPCR)were conducted to identify the expression levels of ROR2 in the BMSCs transfected with LV-shROR2 or LV-ROR2-c.904C>T.The alkaline phosphatase(ALP)activity was detected,and Alizarin Red S staining was done for evaluating the osteogenic differentiation of BMSCs.RT-qPCR was employed to identify the expression of the sphingomyelin synthase 1(SMS1)mRNA in the BMSCs transfected with LV-shROR2 or LV-ROR2-c.904C>T and the mRNA expression levels of Runt-related transcription factor 2(RUNX2),osteocalcin(OCN),and osteopontin(OPN).WB was performed to confirm the protein expressions of extracellular regulated protein kinases1(ERK),P-ERK,Smad family member1/5/8(Smad1/5/8),P-Smad1/5/8,P-P38,P38,RUNX2,OCN,and OPN in the BMSCs transfected with LV-shROR2/LV-ROR2-c.904C>T and sphingomyelin(SM).Results:The ROR2:c.904C>T mutant altered the subcellular localization of the ROR2 protein,which caused an impaired interaction between ROR2 and Wnt5a.The depletion of ROR2 restricted the osteogenic differentiation capability of BMSCs and downregulated the expression of SMS1.SM treatment could reverse the inhibition of osteoblastic differentiation in ROR2-depleted BMSCs.Conclusion:The findings of this work revealed that the ROR2:c.904C>T variant led to the loss of function of ROR2,which impaired the interaction between ROR2 and Wnt5a and also controlled the osteogenic differentiation capability of BMSCs.Furthermore,SM was revealed to be engaged in the osteoblastic differentiation of BMSCs regulated by ROR2,which renders SM a potential target in the therapy for ARRS.

A new partial trisomy 12p with artery catheter vagus,congenital cataract,no turbinate and external auditory canal

We describe the prenatal diagnosis and fetal phenotype of partial trisomy 12 （pl2-pter） transmitted from a maternal reciprocal translocation 6;12. Genetic analysis of umbilical cord blood of a 27-year-old woman, gravida 4, para 1 at 35 weeks＇ gestation due to a tricuspid regurgitation and orbital hypertelorism by sonography revealed an unusual karyotype of 46, XY, der （6） t （6;12） （p24;p12） mat. The pregnancy was terminated at 37 gestational weeks. The proband postnatally displayed by dysmorphic features of a round flat face with prominent cheeks and high forehead, hypertelorism, a short nose, a broad and depressed nasal bridge, anteverted nares, a deformed philtrum, an open mouth, thin upper vermilion and broad everted lower lip, low-set ears and aural atresia, broad hands with simian creases, and a short neck. By anatomy, the fetal was found to have right artery catheter vagus, congenital cataract, no turbinate and external auditory canal. Through the karoytpye-phynotpye analysis on the present patient and a review of other reported cases, we believed that the case was the first report, which expanded the database of partial trisomy 12p, and was of benefit for future clinical genetic counseling. At the same time, this study supported the viewpoint that phenotypic variability depends on the type and extent of the associated partial monosomy

Prevention of malignant digestive system tumors should focus on the control of chronic inflammation

Chronic inflammation,through a variety of mechanisms,plays a key role in the occurrence and development of digestive system malignant tumors(DSMTs).In this study,we feature and provide a comprehensive understanding of DSMT prevention strategies based on preventing or controlling chronic inflammation.The development and evaluation of cancer prevention strategies is a longstanding process.Cancer prevention,especially in the early stage of life,should be emphasized throughout the whole life course.Issues such as the time interval for colon cancer screening,the development of direct-acting antiviral drugs for liver cancer,and the Helicobacter pylori vaccine all need to be explored in long-term,large-scale experiments in the future.

Analysis of the relationship between blood pressure variability and subtle cognitive decline in older adults

BACKGROUND Blood pressure variability(BPV)has been shown to be related to mild cognitive impairment and Alzheimer's disease in a number of studies.However,the relationship between BPV and subtle cognitive decline(SCD)has received minimal attention in this field of research to date and has rarely been reported.AIM To examine whether SCD is independently associated with changes in BPV in older adults.METHODS Participants were selected based on having participated in cognitive function evaluation and ambulatory blood pressure measurement at the Shanghai Sixth People's Hospital Affiliated with Shanghai Jiao Tong University School of Medicine between June 2020 and August 2022.The participants included 182 individuals with SCD as the experimental group and 237 with normal cognitive function as the control group.The basic data,laboratory examinations,scale tests,and ambulatory blood pressure test results of the two groups were analyzed retrospectively,and the relationship between SCD and BPV was subsequently evaluated.RESULTS Significant differences were observed between the two groups of participants(P<0.05)in terms of age,education level,prevalence rate of diabetes,fasting blood glucose level,24-h systolic blood pressure standard deviation and coefficient of variation,24-h diastolic blood pressure standard deviation and coefficient of variation.The scale monitoring results showed significant differences in the scores for memory,attention,and visual space between the experimental and control groups.Logistic regression analysis indicated that age,education level,blood sugar level,and BPV were factors influencing cognitive decline.Linear regression analysis showed that there was an independent correlation between blood pressure variation and SCD,even after adjusting for related factors.Each of the above differences was still significant.CONCLUSION This study suggests that increased BPV is associated with SCD.

Hierarchical Classification of Factors Associated With Noninvasive Prenatal Testing Failures and Its Impact on Pregnancy Outcomes

Objective To conduct a hierarchical classification analysis of the nonreportable results of noninvasive prenatal testing in an attempt to reduce failure rates and provide pregnant women with accurate information to alleviate their anxiety.Methods In this study,30,039 singleton pregnancies who underwent noninvasive prenatal testing in a single center from May 2019 to April 2022 were collected,and 811 samples with initial noninvasive prenatal testing failure were retrospectively analyzed.Grouping was based on the reasons for initial test failure;tracking the noninvasive prenatal testing results and prenatal diagnosis results(if any)of the“z-scores in the gray area”group and analyzing the possible influencing factors of the“low fetal fraction”group in the pre-experimental and experimental period by using one-way analysis of variance,Mann-Whitney U test,andχ2 test;and tracking the pregnancy outcomes of the test failures samples to analyze the risk of perinatal complications and adverse pregnancy outcomes of the different types of test failures.Results None of the samples'initial inconclusive results because of z-scores in the gray area were found to have chromosomal aneuploidy.However,pregnancy complications(P=0.018)and a high likelihood of adverse pregnancy outcomes(P=0.048)may still occur.Maternal gestational age(P<0.001),body mass index(P<0.001),library concentration(P<0.001),and fetal gender(P<0.001)were considered to be the associated factors for the initial low fetal fraction results.This may be associated with pregnancy complications(P<0.001)and a high likelihood of adverse pregnancy outcomes(P=0.034).The body mass index(P=0.015)and time between draws(P=0.001)were associated with the second test’s success.The incidence of low fetal fraction samples was more frequent with blood collection tubes of the G type than with the K type(P<0.001).Conclusion Initial inconclusive results because of z-scores in the gray area did not imply an increased risk of aneuploidy,but vigilance is needed for an increased risk of pregnancy complications and adverse pregnancy outcomes.Because of the low fetal fraction,the initial absence of results may be related to the assay method,as well as the effect of blood collection tubes and the need to be alert to the risk of pregnancy complications and adverse pregnancy outcomes.

Quality control before chromosome detection in peripheral blood

The chromosome detection in peripheral blood of 1,863 patients in our hospital from January 2011 to June 2016 were analyzed. The quality control and precautions before chromosome detection in peripheral blood were reported as follows.

Performance of non-invasive prenatal screening for sex chromosome aneuploidies and parental decision-making

To the Editor:Sex chromosomal aneuploidies(SCAs)are common chromosomal aberrations that are normally diagnosed after birth.It results in abnormal physical development or infertility.The prenatal incidence is as high as 1/435 and is usually identified by karyotyping.SCAs are characterized by an abnormal number of sex chromosomes and include monosomy(45,X),trisomy(47,XXX,47,XXY,and 47,XYY),other aneuploidies and various forms of sex chromosome mosaicism.The phenotypes of SCA patients are diverse.The prenatal diagnosis of fetal SCAs affects the parents and there is a need for clinical counseling.What's more,early diagnosis is important as it provides opportunities for early treatment and future healthcare for children with SCAs.

Remodeling the immune microenvironment for gastric cancer therapy through antagonism of prostaglandin E2 receptor 4

Gastric cancer is highly prevalent among digestive tract tumors.Due to the intri-cate nature of the gastric cancer immune microenvironment,there is currently no effective treatment available for advanced gastric cancer.However,there is promising potential for immunotherapy targeting the prostaglandin E2 receptor subtype 4(EP4)in gastric cancer.In our previous study,we identified a novel small molecule EP4 receptor antagonist called YY001.Treatment with YY001 alone demonstrated a significant reduction in gastric cancer growth and inhibited tumor metastasis to the lungs in a mouse model.Furthermore,adminis-tration of YYo01 stimulated a robust immune response within the tumor microenvironment,characterized by increased infiltration of antigen-presenting cells,T cells,and M1 macro-phages.Additionally,our research revealed that YYo01 exhibited remarkable synergistic ef-fects when combined with the PD-1 antibody and the clinically targeted drug apatinib,rather than fluorouracil.These findings suggest that YYo01 holds great promise as a potential therapeutic strategy for gastric cancer,whether used as a standalone treatment or in combination with other drugs.