A 28-year-old pregnant woman with no prior obstetric complications had a normal prenatal workup before 24 weeks'gestation.At 24 weeks,ultrasound revealed gastrointestinal malformations,a persistent left superior v...A 28-year-old pregnant woman with no prior obstetric complications had a normal prenatal workup before 24 weeks'gestation.At 24 weeks,ultrasound revealed gastrointestinal malformations,a persistent left superior vena cava,and polyhydramnios.展开更多
BACKGROUND Cleidocranial dysplasia(CCD)is an infrequent clinical condition with an autosomal dominant inheritance pattern.It is characterized by abnormal clavicles,patent sutures and fontanelles,supernumerary teeth,an...BACKGROUND Cleidocranial dysplasia(CCD)is an infrequent clinical condition with an autosomal dominant inheritance pattern.It is characterized by abnormal clavicles,patent sutures and fontanelles,supernumerary teeth,and short stature.Approximately 60%-70%of patients with CCD have mutations in the RUNX family transcription factor 2 gene.However,prenatal diagnosis of CCD is difficult when the family history is unknown.CASE SUMMARY We report a rare case of fetal CCD with an unknown family history,confirmed by prenatal ultrasonography and genetic testing at a gestational age of 16 weeks.The genetic reports indicated that the fetus carried pathogenic mutations in the RUNX family transcription factor 2 gene(c.674G>A).After careful consideration,the pregnant woman and her family decided to continue the pregnancy.CONCLUSION Definitive prenatal diagnosis of CCD should include family history,ultrasound diagnosis,and genetic analysis,especially if family history is unknown.展开更多
BACKGROUND Perinatal depression affects 10%-20%of pregnant women and subsequently influences maternal health and fetal development.Concerns over the safety of antidepressants during pregnancy have prompted the explora...BACKGROUND Perinatal depression affects 10%-20%of pregnant women and subsequently influences maternal health and fetal development.Concerns over the safety of antidepressants during pregnancy have prompted the exploration of nutritional interventions as adjunct therapies.This study evaluated the impact of combining preconception and prenatal supplementation with myo-inositol,probiotics,and trace elements on mood,quality of life,and fetal development in depressed mothers.This retrospective cohort study included 314 pregnant women who were diag-nosed with mild to moderate depression,as determined by a Zung self-rating depression scale score of less than 69.The participants were divided into an intervention group(n=161)receiving myo-inositol,probiotics,and trace elements and a control group(n=153)without supplementation.Supplementation comm-enced 3 months before conception and continued through pregnancy.Psychiatric symptoms and quality of life were evaluated using the positive and negative affect schedule-now,state-trait anxiety inventory,Patient Health Ques-tionnaire-8,and World Health Organization Quality of life Assessment:Brief Version scales preconception and postpartum.Fetal development metrics were assessed via ultrasound,and neonatal outcomes were recorded.RESULTS The intervention group presented significant reductions in gestational diabetes mellitus(13.04%vs 23.53%,P=0.016)and gestational hypertension(3.73%vs 9.15%,P=0.049).Higher levels of inositol,iron,zinc,and probiotics were observed near term in the intervention group.Postpartum mood assessments indicated lower anxiety and depression scores for the intervention group,with significant improvements in the positive and negative affect schedule-now(P=0.002),trait anxiety(P=0.002),and Patient Health Questionnaire-8(P=0.018)scores.The World Health Organization Quality of life Assessment:Brief Version scores improved in the psychological(P=0.041)and environmental(P=0.009)domains postpartum.Fetal biparietal diameter and femoral length were greater in the intervention group alongside better neonatal body length and reduced neonatal unit admissions(2.48%vs 7.84%,P=0.031).CONCLUSION Combined supplementation with myo-inositol,probiotics,and trace elements from preconception through pregnancy may reduce pregnancy-related complications,enhance mood and quality of life,and improve fetal growth metrics.展开更多
Objective:To translate,adapt,and validate the Indonesian version of the Prenatal Health Behavior Scale.Methods:This cross-sectional,cross-cultural adaptation study was conducted between September 2024 and October 2024...Objective:To translate,adapt,and validate the Indonesian version of the Prenatal Health Behavior Scale.Methods:This cross-sectional,cross-cultural adaptation study was conducted between September 2024 and October 2024 in Ngrambe and Sine,subdistricts in Ngawi,East Java,Indonesia.We selected participants using purposive convenience sampling and matched them with inclusion and exclusion criteria.We collected sociodemographic,Prenatal Health Behavior Scale,and anthropometrics(height,weight,body mass index,and middle-upper arm circumference)data.We analyzed the content validity using the content validity index and Gwet's chance-corrected Agreement Coefficient 2,face validity by pilot-testing on several pregnant women,and construct validity using exploratory factor analysis.We measured reliability using McDonald's omega coefficient.Results:We recruited 183 pregnant women in this study(median age 28 years).The item-content validity index(I-CVI)of all items was 1.00,with Gwet's chance-corrected Agreement Coefficient 2 was 0.945.The face validity resulted in a clear statement of all items.The exploratory factor analysis showed the two-factor model best suited to the questionnaire.Omega coefficients for the overall scale,health-impairing,and health-promoting domains were 0.696,0.507,and 0.678,respectively.Conclusions:The Indonesian version of the Prenatal Health Behavior Scale is a valid and reliable instrument to assess prenatal health behavior in Indonesian-speaking pregnant women.Future studies may implement this scale in community and clinical settings.展开更多
Purpose:Derivative chromosomes,resulting from complex structural rearrangements,pose significant challenges in prenatal diagnosis due to their unpredictable inheritance patterns and potential phenotypic consequences.T...Purpose:Derivative chromosomes,resulting from complex structural rearrangements,pose significant challenges in prenatal diagnosis due to their unpredictable inheritance patterns and potential phenotypic consequences.This study evaluates the efficacy of multiple genetic technologies-including karyotyping,fluorescence in situ hybridization(FISH),chromosomal microarray analysis(CMA),and next-generation sequencing(NGS)-in detecting and characterizing derivative chromosomes in prenatal samples.methodology:We analyzed 150 cases of suspected chromosomal abnormalities,comparing detection rates,resolution,and clinical utility across these methods.Results:Our findings demonstrate that integrated multi-technology approaches significantly improve diagnostic accuracy,with NGS-based structural variation analysis achieving the highest detection sensitivity(99.2%)for cryptic rearrangements.Conclusions:Additionally,long-read sequencing(PacBio/Oxford Nanopore)enabled precise breakpoint mapping in 92%of cases,facilitating more accurate genetic counseling.Clinically,this approach enhances risk assessment for fetal anomalies,guides pregnancy management,and improves parental counseling for recurrence risks.展开更多
BACKGROUND Carriers of chromosomal balanced translocations are often physically healthy with no obvious developmental problems.However,potential chromosomal imbalance in their gametes can lead to implantation failure,...BACKGROUND Carriers of chromosomal balanced translocations are often physically healthy with no obvious developmental problems.However,potential chromosomal imbalance in their gametes can lead to implantation failure,miscarriage,or the birth of a child with a chromosomal abnormality.CASE SUMMARY We report six cases of chromosomal translocations involving three families,including the specific Robertson(Roche)translocation.Case 1:The karyotype of the proband was 46,XX,t(18;19)(q22;p12).Case 2:Interventional prenatal diagnosis at 18 weeks of gestation confirmed that the karyotype of the fetus was 46,XY,t(18;19)(q22;p12).Case 3:The karyotype of the proband was 46,XY,t(5;18)(p13;p11).Case 4:Interventional prenatal diagnosis at 14+6 weeks confirmed that the karyotype of the fetus was 46,XX,der(18)t(5;18)(p13;p11)pat.Case 5:The karyotype of the proband was 45,XY,der(14;22)(q10;q10).Case 6:Interventional prenatal diagnosis at 19+4 weeks confirmed that the karyotype of the fetus was 45,XX,rob(14;22)(q10;q10).CONCLUSION Carriers of chromosomal translocations have a high risk of adverse pregnancy outcomes,though they can still have normal offspring.This report on six cases of chromosomal translocations from three families could serve as a reference for future prenatal diagnosis of chromosomal translocations and decision-making on whether to continue the pregnancy.展开更多
Prenatal caffeine exposure(PCE)leads to intrauterine growth retardation and altered glucose homeostasis after birth,but the underlying mechanism remains unclear.This study aims to investigate the alteration of pancrea...Prenatal caffeine exposure(PCE)leads to intrauterine growth retardation and altered glucose homeostasis after birth,but the underlying mechanism remains unclear.This study aims to investigate the alteration of pancreatic development and insulin biosynthesis in the PCE female offspring and explore the intrauterine programming mechanism.Pregnant rats were orally treated with 120 mg/(kg·day)of caffeine from gestational day(GD)9 to 20.Results showed that fetal pancreaticβ-cells in the PCE group exhibited reduced mass and impaired insulin synthesis function,as evidenced by decreased expression of developmental and functional genes and reduced pancreatic insulin content.At postnatal week(PW)12,the PCE offspring exhibited glucose intolerance,diminishedβ-cell mass,and lower blood insulin levels.However,by PW28,glucose tolerance showed some improvement.Both in vivo and in vitro findings collectively indicated that excessive serum corticosterone(CORT)levels of the PCE fetuses may act through the activation of the pancreatic glucocorticoid receptor(GR)and recruitment of histone deacetylase 9(HDAC9),leading to H3K9 deacetylation in promoter and downregulation of insulin-like growth factor 1(IGF1),thereby inhibiting pancreatic islet morphogenesis and insulin synthesis in fetal rats.Furthermore,the PCE offspring after birth exhibited decreased blood CORT levels,increased H3K9 acetylation in promoter and upregulated gene expression of the pancreatic IGF1 promoter region,accompanied by elevated insulin biosynthesis.However,when exposed to chronic stress,the above changes were totally reversed.Conclusively,“glucocorticoid-insulin like growth factor 1(GC-IGF1)axis”programming may be involved in pancreaticβ-cell dysplasia and dysfunction in the PCE female offspring.展开更多
Objectives:Childbirth fear affects 34.2%of Chinese primigravida women,leading to adverse birth outcomes.Family-centered prenatal education(FCPE)may reduce fear through enhanced support systems.Methods:This quasiexperi...Objectives:Childbirth fear affects 34.2%of Chinese primigravida women,leading to adverse birth outcomes.Family-centered prenatal education(FCPE)may reduce fear through enhanced support systems.Methods:This quasiexperimental study examined the effectiveness of FCPE among 120 primigravida women(14–20 weeks’gestation)at Yancheng Third People’s Hospital.Participants with elevated Childbirth Fear Questionnaire(CFQ)scores(≥81)were assigned to either the experimental group(FCPE+standard care,n=60)or the control group(standard care only,n=60).FCPE consisted of five weekly 2-hour sessions involving pregnant women and family members.Results:Both groups showed moderate baseline fear levels(experimental:85.68±6.30;control:88.57±6.41,p=0.112).Post-intervention,the experimental group achieved significantly lower fear scores(80.43±8.53 vs.87.35±6.91,p=0.001,Cohen’s d=0.88).58.3%of experimental participants transitioned to low fear levels,compared to 16.7%in the control group.Educational level significantly moderated the outcomes within the experimental group(p=0.031).Conclusion:FCPE effectively reduces anticipatory childbirth fear with a large effect size,supporting implementation in Chinese prenatal care for improving maternal psychological well-being.展开更多
BACKGROUND Floating-harbor syndrome(FHS)is a rare genetic disorder caused by pathogenic variants in the SRCAP gene.Most individuals with FHS have short stature,delayed speech and language development,and dysmorphic fa...BACKGROUND Floating-harbor syndrome(FHS)is a rare genetic disorder caused by pathogenic variants in the SRCAP gene.Most individuals with FHS have short stature,delayed speech and language development,and dysmorphic facial features.However,the patients with FHS are not easy to diagnose due to the overlap of clinical phenotypes with other disorders.CASE SUMMARY We reported a 10-year-old boy who presented with severe short stature,developmental delay and distinctive facial features.Exome sequencing was provided for the proband and his parents.We identified a novel frameshift variant c.7235delinsGT(p.Thr2412fs)in SRCAP gene,and the variant was further validated by Sanger sequencing.The mother of the proband was referred to us for prenatal consultation during next pregnancy.We performed prenatal genetic diagnosis for the fetus.The result of Sanger sequencing for c.7235delinsGT(p.Thr2412fs)in SRCAP gene showed that the fetus did not carry the variant,so the fetus has been born successfully.The newborn does not show any similar symptom to the proband till one month.CONCLUSION This case confirms that the c.7235delinsGT(p.Thr2412fs)variant in the SRCAP gene is associated with FHS and expands the spectrum of SRCAP variants.展开更多
Introduction Aortic arch anomalies are congenital malformations of the position or branching of the aortic arch,or both.Double aortic arch(DAA)is a very rare malformation,affecting approximately 0.005%~0.007% of fetus...Introduction Aortic arch anomalies are congenital malformations of the position or branching of the aortic arch,or both.Double aortic arch(DAA)is a very rare malformation,affecting approximately 0.005%~0.007% of fetuses[1],and there has been no relevant literature mentioning the prenatal finding DAA in Macao till now.展开更多
We present the clinical and genetic findings for a Chinese family with X-linked non-syndromic hearing loss in which the affected males showed congenital profound sensorineural hearing impairment. In two affected broth...We present the clinical and genetic findings for a Chinese family with X-linked non-syndromic hearing loss in which the affected males showed congenital profound sensorineural hearing impairment. In two affected brothers, the computer tomography of temporal bone showed bilateral dilation of the internal auditory canal with fistulous communication between the lateral canal and the basal cochlear turn, which is consistent with the typical DFNX2 phenotype. A missense mutation （c.647G→A） in the POU3F4 gene caused a substitu- tion from glycine to glutamic acid at position 216 （p.G216E）, and this mutation was found to consistently cosegregate with the deafness phenotype in the family. The mutation resulted in the loss of function of the POU3F4 by decreasing the affinity between the protein and DNA, as shown in silico by the structural analysis. Prenatal diagnosis of pregnant proband of this family revealed the c.647G→A mutation in DNA extracted from the amniotic fluid surrounding the fetus. The appropriate use of genetic testing and prenatal diagnosis plays a key role in reducing the recurrence of genetic defects in high-risk families.展开更多
The last two decades have seen continuous advances in prenatal ultrasonography and in utero magnetic resonance imaging. These technologies have increasingly enabled the identification of various spinal pathologies dur...The last two decades have seen continuous advances in prenatal ultrasonography and in utero magnetic resonance imaging. These technologies have increasingly enabled the identification of various spinal pathologies during early stages of gestation. The purpose of this paper is to review the range of fetal spine anomalies and their management, with the goal of improving the clinician's ability to counsel expectant parents prenatally.展开更多
Oculocutaneous albinism（OCA） is an autosomal recessive disorder characterized by hypopigmentation in eyes,hair and skin,accompanied with vision loss.Currently,six genes have been identified as causative genes for no...Oculocutaneous albinism（OCA） is an autosomal recessive disorder characterized by hypopigmentation in eyes,hair and skin,accompanied with vision loss.Currently,six genes have been identified as causative genes for non-syndromic OCA（OCA-1w4,6,7）,and ten genes for syndromic OCA（HPS-1e9,CHS-1）.Genetic counseling of 51 Chinese OCA families（39 OCA-1 with mutations in the TYR gene,6 OCA-2 with mutations in the OCA2 gene,4 OCA-4 with mutations in the SLC45A2 gene,1 HPS-1（Hermanskye Pudlak syndrome-1） with mutation in the HPS1 gene,and 1 mixed OCA-1 and OCA-4） led us to perform the prenatal genetic testing of OCA using amniotic fluid cells through the implementation of our optimized strategy.In our cohort,eleven previously unidentified alleles（PUAs）（5 in TYR,2 in OCA2,and 4 in SLC45A2） were found.Three missense PUAs（p.C112 R,p.H363 R and p.G379 V of TYR） and one in-frame deletional PUA（p.S222 del of SLC24A5） led to fetuses with OCA when co-inherited with other disease causative alleles.Three PUAs（p.P152 H and p.W272 X of TYR,p.A486 T of SLC24A5） identified in the OCA probands did not co-transmit with known pathological alleles and thus gave rise to unaffected fetuses.Four PUAs（p.Q83 X and p.A658 T of TYR,p.G161 R and p.G366 R of SLC24A5） did not transmit to the unaffected fetuses.In addition,the in vitro transfection assays showed that the p.S192 Y variant of TYR produced less pigment compared to the wild-type allele.A fetus with a digenic carrier of OCA-1 and OCA-4 was unaffected.In combination with functional assays,the family inheritance pattern is useful for the evaluation of pathogenicity of PUAs and genetic counseling of OCA.展开更多
Objective: To study the value of detecting fetal congenital heart disease (CHD) using the five transverse planes technique of fetal echocardiography. Methods: Nine hundred and eighty-two high-risk pregnancies for feta...Objective: To study the value of detecting fetal congenital heart disease (CHD) using the five transverse planes technique of fetal echocardiography. Methods: Nine hundred and eighty-two high-risk pregnancies for fetal CHD were included in this study, the fetal heart was scanned with the five transverse planes technique of fetal echocardiography described by Yagel, autopsy was conducted when pregnancy was terminated. Blood from fetal heart was collected for fetal chromosome analysis. A close follow-up was given for normal fetal heart pregnancies and neonatal echocardiography was performed to check the accuracy of prenatal diagnosis. Results: (1) Forty-six cases (4.68%) were found to have fetal heart abnormalities in this study, 69.56% of them were diagnosed by single four-chamber view, another 30.43% fetal CHD were found by combining other views; (2) Forty-one parents of prenatal fetuses with CHD chose to terminate pregnancy, thirty-two of them gave consent to conduct autopsy, 93.75% of which yielded unanimous conclusion between prenatal fetal echocardiography and autopsy; (3) Thirty-two of 46 cases underwent fetal chromosome analysis, 8 cases (25%) were found to have abnormal chromosome; (4) Five cases were found to have right ventricle and atrium a little bigger than those on the left side, with the unequal condition being the same after birth, but there were no clinical manifestations and they are healthy for the time being; (5) Nine hundred and thirty-six cases were not found with abnormality in this study, but one case was diagnosed with ventricular septal defect after birth, one case was diagnosed with patent ductus arteriosus, one case had atrial septal defect after birth. Conclusions: (1) The detected CHD rate was 4.68% by screening fetal heart with five transverse planes according to Yagel’s description of high risk population basis for CHD. The coinciding rate of prenatal diagnosis and autopsy was 93.75%; (2) The sensitivity of detecting fetal heart abnormality is 92%, the specificity is 99.6% using the five transverse planes technique of fetal echocardiography; (3) Fetuses with mild or moderate disproportion of right and left side in the heart are potentially healthy babies.展开更多
This study examined the methylation difference in AIRE and RASSF1A between maternal and placental DNA, and the implication of this difference in the identification of free fetal DNA in maternal plasma and in prenatal ...This study examined the methylation difference in AIRE and RASSF1A between maternal and placental DNA, and the implication of this difference in the identification of free fetal DNA in maternal plasma and in prenatal diagnosis of trisomy 21. Maternal plasma samples were collected from 388 singleton pregnancies, and placental or chorionic villus tissues from 112 of them. Methylation-specific PCR （MSP） and methylation-sensitive restriction enzyme digestion followed by fluorescent quantitative PCR （MSRE ＋ PCR） were employed to detect the maternal-fetal methylation difference in AIRE and RASSF1A. Diagnosis of trisomy 21 was established according to the ratio of fetal-specific AIRE to RASSF1A in maternal plasma. Both methods confirmed that AIRE and RASSF1A were hypomethylated in maternal blood cells but hypermethylated in placental or chorionic villus tissues. Moreover, the differential methylation for each locus could be seen during the whole pregnant period. The positive rates of fetal AIRE and RASSF1A in maternal plasma were found to be 78.1% and 82.1% by MSP and 94.8% and 96.9% by MSRE ＋ PCR. MSRE ＋ PCR was superior to MSP in the identification of fetal-specific hypermethylated sequences （P〈0.05）. Based on the data from 266 euploidy pregnancies, the 95% reference interval of the fetal AIRE/RASSF1A ratio in maternal plasma was 0.33-1.77, which was taken as the reference value for determining the numbers of fetal chromosome 21 in 102 pregnancies. The accu-racy rate in 98 euploidy pregnancies was 96.9% （95/98）. Three of the four trisomy 21 pregnancies were confirmed with this method. It was concluded that hypermethylated AIRE and RASSF1A may serve as fetal-specific markers for the identification of fetal DNA in maternal plasma and may be used for noninvasive prenatal diagnosis of trisomy 21.展开更多
In our previous study, we reported that prenatal restraint stress could induce cognitive deficits, which correlated with a change in expression of growth-associated protein 43 in the hippocampus. In this study, we inv...In our previous study, we reported that prenatal restraint stress could induce cognitive deficits, which correlated with a change in expression of growth-associated protein 43 in the hippocampus. In this study, we investigated the effects of enriched environment on cognitive abilities in prenatally stressed rat offspring, as well as the underlying mechanisms. Reverse transcription-PCR and western blot assay results revealed that growth-associated protein 43 mRNA and protein levels were upregulated on postnatal day 15 in the prenatal restraint stress group. Growth-associated protein 43 expression was significantly lower in the prenatal restraint stress group compared with the negative control and prenatal restraint stress plus enriched environment groups on postnatal days 30 and 50. Morris water maze test demonstrated that cognitive abilities were noticeably increased in rats from the prenatal restraint stress plus enriched environment group on postnatal day 50. These results indicate that enriched environment can improve the spatial learning and memory ability of prenatally stressed offspring by upregulating growth-associated protein 43 expression.展开更多
Objective To identify and determine the optimal method to screening for fetal Down's syndrome(DS).Methods Three large cohorts with 17118,39903,16646 subjects were enrolled for the first trimester double marker(pre...Objective To identify and determine the optimal method to screening for fetal Down's syndrome(DS).Methods Three large cohorts with 17118,39903,16646 subjects were enrolled for the first trimester double marker(pregnancy-associated plasma protein A and free[B-human chorionic gonadotropin)screening(FTDMS),second trimester double marker(c{-fetoprotein and free B-human chorionic gonadotropin)screening(STDMS),and second trimester triple marker(a-fetoprotein,free 13-human chorionic gonadotropin and unconjugated estriol 3)screening(STTMS),respectively.The sensitivity,specificity,false positive rate(FPR),false negative rate(FNR)and the areas under ROC curves(AUCs)were estimated in order to determine the optimal screening method in women under or above 35 years old.Results For women under 35 years old,STTMS was the best method with a detection rate of 68.8%and FPR of 4.3%followed by the STDMS with a detection rate(sensitivity)of 66.7%and FPR of 4.9%.The FTDMS had a lower detection rate of 61.1%and FPR of 6.3%.For women above 35 years old,the detection rate of all the methods was similar,but STTMS method had a lowest FPR of 15.9%.For women under 35 years old AUCs were 0.77(95%CI,0.64 to 0.91),0.81(95%CI,0.71 to 0.91),and 0.82(95%CI,0.69 to 0.96)for FTDMS,STDMS,and STTMS methods,respectively;for those above 35 years old,AUCs were 0.70(95%CI,0.56 to 0.83),0.70(95%CI,0.59 to 0.82),0.78(95%Cl,0.58 to 0.97)for FTDMS,STDMS and SITMS,respectively.Conclusion Findings from our study revealed that STDMS is optimal for the detection of fetal DS in pregnant women aged under 35.For individual women,if economic condition permits,STFMS is the best choice,while for women aged above 35,STTMS is the best choice in this regard.展开更多
BACKGROUND Chronic stress during pregnancy may increase visceral hyperalgesia of offspring in a sex-dependent way.Combining adult stress in offspring will increase this sensitivity.Based on the evidence implicating es...BACKGROUND Chronic stress during pregnancy may increase visceral hyperalgesia of offspring in a sex-dependent way.Combining adult stress in offspring will increase this sensitivity.Based on the evidence implicating estrogen in exacerbating visceral hypersensitivity in female rodents in preclinical models,we predicted that chronic prenatal stress(CPS)+chronic adult stress(CAS)will maximize visceral hyperalgesia;and that estrogen plays an important role in colonic hyperalgesia.AIM The aim was to illuminate the role of estrogen in colonic hyperalgesia and its underlying mechanisms.METHODS We established a CPS plus CAS rodent model in which the balloon was used to distend the colorectum.The single-fiber recording in vivo and patch clamp experiments in vitro were used to monitor the colonic neuron’s activity.The reverse transcription-polymerase chain reaction,western blot,and immunofluorescence were used to study the effects of CPS and CAS on colon primary afferent sensitivity.We used ovariectomy and letrozole to reduce estrogen levels of female rats respectively in order to assess the role of estrogen in female-specific enhanced primary afferent sensitization.RESULTS Spontaneous activity and single fiber activity were significantly greater in females than in males.The enhanced sensitization in female rats mainly came from lowthreshold neurons.CPS significantly increased single-unit afferent fiber activity in L6-S2 dorsal roots in response.Activity was further enhanced by CAS.In addition,the excitability of colon-projecting dorsal root ganglion(DRG)neurons increased in CPS+CAS rats and was associated with a decrease in transient Atype K+currents.Compared with ovariectomy,treatment with the aromatase inhibitor letrozole significantly reduced estrogen levels in female rats,confirming the gender difference.Moreover,mice treated with letrozole had decreased colonic DRG neuron excitability.The intrathecal infusion of estrogen increased brain-derived neurotrophic factor(BDNF)protein levels and contributed to the response to visceral pain.Western blotting showed that nerve growth factor protein was upregulated in CPS+CAS mice.CONCLUSION This study adds to the evidence that estrogen-dependent sensitization of primary afferent colon neurons is involved in the development of chronic stress-induced visceral hypersensitivity in female rats.展开更多
Background The well-known ‘pyrotherapy’ of Julius Wagner-Jauregg might be the beginning of the study on the immunological concepts of schizophrenia. As the primary immune effector cells in the brain, microglia play...Background The well-known ‘pyrotherapy’ of Julius Wagner-Jauregg might be the beginning of the study on the immunological concepts of schizophrenia. As the primary immune effector cells in the brain, microglia play a pivotal role in neuroinfammatory processes. Maternal viral infection during pregnancy is associated with an increased risk for psychiatric disorders with presumed neurodevelopmental origin, including autism spectrum disorders and schizophrenia. The present study was to quantify microglia activation in vivo in the mature offspring of rats exposed to polyriboinosinic–polyribocytidilicacid （Poly I：C） during pregnancy using ^11C-PK11195 positron emission tomography （PET） and immunohistochemistry.Objective The study aimed to quantify microglia activation in vivo in the prefrontal cortex and hippocampus in mature offspring of prenatal Poly I：C exposed rats.Methods Offspring of Poly I：C-treated dams were the model group, offspring of saline-treated dams were the control group. Behavioural test for two groups was taken by spontaneous activity, prepulse inhibition （PPI） and latent inhibition （LI） test （including active avoidance conditioning task and passive avoidance conditioning task）. Randomly selected successful model rats were assessed by behavioural test in the model group and control group rats. 11C-PK11195 micro-PET/CT and immunohistochemistry were performed on the selected rats to measure microglia activation.Results The treatment group showed hyperlocomotion and defcits in PPI and LI compared with the control group. The treatment group also showed an increased 11C-PK11195 uptake ratio in the prefrontal cortex （t=-3.990, p=0.003） and hippocampus （t=-4.462, p=0.001）. The number of activated microglia cells was signifcantly higher in the treatment group than in the control group （hippocampus： t=8.204, p〈0.001; prefrontal： t=6.995, p〈0.001）. Within the treatment group, there were signifcant correlations between the behavioural parameters and the activation of microglia as measured by PET and immunohistochemistry.Conclusions The present study demonstrated microglia activation in vivo in the prefrontal cortex and hippocampus in mature offspring of prenatal Poly I：C exposed rats. This study suggests that microglia activation may play a possible or potential role in the pathogenesis of schizophrenia.展开更多
Choledochal cysts are congenital anomalies of the biliary ducts, characterized by cystic dilatation of the ducts.Prenatal diagnosis of this anomaly using ultrasonography (US) has been well documented. Magnetic resonan...Choledochal cysts are congenital anomalies of the biliary ducts, characterized by cystic dilatation of the ducts.Prenatal diagnosis of this anomaly using ultrasonography (US) has been well documented. Magnetic resonance imaging (MRI) has recently become an important complement to US in prenatal diagnosis of fetal anomalies. We herein report a patient in whom at 24 wk' gestation US suggested a right upper quadrant abdominal cyst and in whom at 26 wk' gestation MRI more clearly delineated the cyst and its surrounding structures and suggested a choledochal cyst, which was confirmed at postnatal surgery and histopathology.展开更多
基金supported by the Natural Science Foundation of Zhejiang Province(Grant number:LGF22H040003).
文摘A 28-year-old pregnant woman with no prior obstetric complications had a normal prenatal workup before 24 weeks'gestation.At 24 weeks,ultrasound revealed gastrointestinal malformations,a persistent left superior vena cava,and polyhydramnios.
基金Supported by Science and Technology Development Plan Project of Weifang,No.2023YX005。
文摘BACKGROUND Cleidocranial dysplasia(CCD)is an infrequent clinical condition with an autosomal dominant inheritance pattern.It is characterized by abnormal clavicles,patent sutures and fontanelles,supernumerary teeth,and short stature.Approximately 60%-70%of patients with CCD have mutations in the RUNX family transcription factor 2 gene.However,prenatal diagnosis of CCD is difficult when the family history is unknown.CASE SUMMARY We report a rare case of fetal CCD with an unknown family history,confirmed by prenatal ultrasonography and genetic testing at a gestational age of 16 weeks.The genetic reports indicated that the fetus carried pathogenic mutations in the RUNX family transcription factor 2 gene(c.674G>A).After careful consideration,the pregnant woman and her family decided to continue the pregnancy.CONCLUSION Definitive prenatal diagnosis of CCD should include family history,ultrasound diagnosis,and genetic analysis,especially if family history is unknown.
文摘BACKGROUND Perinatal depression affects 10%-20%of pregnant women and subsequently influences maternal health and fetal development.Concerns over the safety of antidepressants during pregnancy have prompted the exploration of nutritional interventions as adjunct therapies.This study evaluated the impact of combining preconception and prenatal supplementation with myo-inositol,probiotics,and trace elements on mood,quality of life,and fetal development in depressed mothers.This retrospective cohort study included 314 pregnant women who were diag-nosed with mild to moderate depression,as determined by a Zung self-rating depression scale score of less than 69.The participants were divided into an intervention group(n=161)receiving myo-inositol,probiotics,and trace elements and a control group(n=153)without supplementation.Supplementation comm-enced 3 months before conception and continued through pregnancy.Psychiatric symptoms and quality of life were evaluated using the positive and negative affect schedule-now,state-trait anxiety inventory,Patient Health Ques-tionnaire-8,and World Health Organization Quality of life Assessment:Brief Version scales preconception and postpartum.Fetal development metrics were assessed via ultrasound,and neonatal outcomes were recorded.RESULTS The intervention group presented significant reductions in gestational diabetes mellitus(13.04%vs 23.53%,P=0.016)and gestational hypertension(3.73%vs 9.15%,P=0.049).Higher levels of inositol,iron,zinc,and probiotics were observed near term in the intervention group.Postpartum mood assessments indicated lower anxiety and depression scores for the intervention group,with significant improvements in the positive and negative affect schedule-now(P=0.002),trait anxiety(P=0.002),and Patient Health Questionnaire-8(P=0.018)scores.The World Health Organization Quality of life Assessment:Brief Version scores improved in the psychological(P=0.041)and environmental(P=0.009)domains postpartum.Fetal biparietal diameter and femoral length were greater in the intervention group alongside better neonatal body length and reduced neonatal unit admissions(2.48%vs 7.84%,P=0.031).CONCLUSION Combined supplementation with myo-inositol,probiotics,and trace elements from preconception through pregnancy may reduce pregnancy-related complications,enhance mood and quality of life,and improve fetal growth metrics.
文摘Objective:To translate,adapt,and validate the Indonesian version of the Prenatal Health Behavior Scale.Methods:This cross-sectional,cross-cultural adaptation study was conducted between September 2024 and October 2024 in Ngrambe and Sine,subdistricts in Ngawi,East Java,Indonesia.We selected participants using purposive convenience sampling and matched them with inclusion and exclusion criteria.We collected sociodemographic,Prenatal Health Behavior Scale,and anthropometrics(height,weight,body mass index,and middle-upper arm circumference)data.We analyzed the content validity using the content validity index and Gwet's chance-corrected Agreement Coefficient 2,face validity by pilot-testing on several pregnant women,and construct validity using exploratory factor analysis.We measured reliability using McDonald's omega coefficient.Results:We recruited 183 pregnant women in this study(median age 28 years).The item-content validity index(I-CVI)of all items was 1.00,with Gwet's chance-corrected Agreement Coefficient 2 was 0.945.The face validity resulted in a clear statement of all items.The exploratory factor analysis showed the two-factor model best suited to the questionnaire.Omega coefficients for the overall scale,health-impairing,and health-promoting domains were 0.696,0.507,and 0.678,respectively.Conclusions:The Indonesian version of the Prenatal Health Behavior Scale is a valid and reliable instrument to assess prenatal health behavior in Indonesian-speaking pregnant women.Future studies may implement this scale in community and clinical settings.
文摘Purpose:Derivative chromosomes,resulting from complex structural rearrangements,pose significant challenges in prenatal diagnosis due to their unpredictable inheritance patterns and potential phenotypic consequences.This study evaluates the efficacy of multiple genetic technologies-including karyotyping,fluorescence in situ hybridization(FISH),chromosomal microarray analysis(CMA),and next-generation sequencing(NGS)-in detecting and characterizing derivative chromosomes in prenatal samples.methodology:We analyzed 150 cases of suspected chromosomal abnormalities,comparing detection rates,resolution,and clinical utility across these methods.Results:Our findings demonstrate that integrated multi-technology approaches significantly improve diagnostic accuracy,with NGS-based structural variation analysis achieving the highest detection sensitivity(99.2%)for cryptic rearrangements.Conclusions:Additionally,long-read sequencing(PacBio/Oxford Nanopore)enabled precise breakpoint mapping in 92%of cases,facilitating more accurate genetic counseling.Clinically,this approach enhances risk assessment for fetal anomalies,guides pregnancy management,and improves parental counseling for recurrence risks.
基金Supported by The Science and Technology Department of Jilin Province,China,No.YDZJ202301ZYTS002The Jilin Province Medical and Health Talents Project,No.2019SRCJ010.
文摘BACKGROUND Carriers of chromosomal balanced translocations are often physically healthy with no obvious developmental problems.However,potential chromosomal imbalance in their gametes can lead to implantation failure,miscarriage,or the birth of a child with a chromosomal abnormality.CASE SUMMARY We report six cases of chromosomal translocations involving three families,including the specific Robertson(Roche)translocation.Case 1:The karyotype of the proband was 46,XX,t(18;19)(q22;p12).Case 2:Interventional prenatal diagnosis at 18 weeks of gestation confirmed that the karyotype of the fetus was 46,XY,t(18;19)(q22;p12).Case 3:The karyotype of the proband was 46,XY,t(5;18)(p13;p11).Case 4:Interventional prenatal diagnosis at 14+6 weeks confirmed that the karyotype of the fetus was 46,XX,der(18)t(5;18)(p13;p11)pat.Case 5:The karyotype of the proband was 45,XY,der(14;22)(q10;q10).Case 6:Interventional prenatal diagnosis at 19+4 weeks confirmed that the karyotype of the fetus was 45,XX,rob(14;22)(q10;q10).CONCLUSION Carriers of chromosomal translocations have a high risk of adverse pregnancy outcomes,though they can still have normal offspring.This report on six cases of chromosomal translocations from three families could serve as a reference for future prenatal diagnosis of chromosomal translocations and decision-making on whether to continue the pregnancy.
基金supported by grants from the National Key Research and Development Program of China(2020YFA0803900)the National Natural Science Foundation of China(U23A20407,82414020,81703631)the Hubei Provincial Natural Science Foundation of China(2024AFB742)。
文摘Prenatal caffeine exposure(PCE)leads to intrauterine growth retardation and altered glucose homeostasis after birth,but the underlying mechanism remains unclear.This study aims to investigate the alteration of pancreatic development and insulin biosynthesis in the PCE female offspring and explore the intrauterine programming mechanism.Pregnant rats were orally treated with 120 mg/(kg·day)of caffeine from gestational day(GD)9 to 20.Results showed that fetal pancreaticβ-cells in the PCE group exhibited reduced mass and impaired insulin synthesis function,as evidenced by decreased expression of developmental and functional genes and reduced pancreatic insulin content.At postnatal week(PW)12,the PCE offspring exhibited glucose intolerance,diminishedβ-cell mass,and lower blood insulin levels.However,by PW28,glucose tolerance showed some improvement.Both in vivo and in vitro findings collectively indicated that excessive serum corticosterone(CORT)levels of the PCE fetuses may act through the activation of the pancreatic glucocorticoid receptor(GR)and recruitment of histone deacetylase 9(HDAC9),leading to H3K9 deacetylation in promoter and downregulation of insulin-like growth factor 1(IGF1),thereby inhibiting pancreatic islet morphogenesis and insulin synthesis in fetal rats.Furthermore,the PCE offspring after birth exhibited decreased blood CORT levels,increased H3K9 acetylation in promoter and upregulated gene expression of the pancreatic IGF1 promoter region,accompanied by elevated insulin biosynthesis.However,when exposed to chronic stress,the above changes were totally reversed.Conclusively,“glucocorticoid-insulin like growth factor 1(GC-IGF1)axis”programming may be involved in pancreaticβ-cell dysplasia and dysfunction in the PCE female offspring.
文摘Objectives:Childbirth fear affects 34.2%of Chinese primigravida women,leading to adverse birth outcomes.Family-centered prenatal education(FCPE)may reduce fear through enhanced support systems.Methods:This quasiexperimental study examined the effectiveness of FCPE among 120 primigravida women(14–20 weeks’gestation)at Yancheng Third People’s Hospital.Participants with elevated Childbirth Fear Questionnaire(CFQ)scores(≥81)were assigned to either the experimental group(FCPE+standard care,n=60)or the control group(standard care only,n=60).FCPE consisted of five weekly 2-hour sessions involving pregnant women and family members.Results:Both groups showed moderate baseline fear levels(experimental:85.68±6.30;control:88.57±6.41,p=0.112).Post-intervention,the experimental group achieved significantly lower fear scores(80.43±8.53 vs.87.35±6.91,p=0.001,Cohen’s d=0.88).58.3%of experimental participants transitioned to low fear levels,compared to 16.7%in the control group.Educational level significantly moderated the outcomes within the experimental group(p=0.031).Conclusion:FCPE effectively reduces anticipatory childbirth fear with a large effect size,supporting implementation in Chinese prenatal care for improving maternal psychological well-being.
基金Supported by National Key Research and Development Program of China,No.2022YFC2703302.
文摘BACKGROUND Floating-harbor syndrome(FHS)is a rare genetic disorder caused by pathogenic variants in the SRCAP gene.Most individuals with FHS have short stature,delayed speech and language development,and dysmorphic facial features.However,the patients with FHS are not easy to diagnose due to the overlap of clinical phenotypes with other disorders.CASE SUMMARY We reported a 10-year-old boy who presented with severe short stature,developmental delay and distinctive facial features.Exome sequencing was provided for the proband and his parents.We identified a novel frameshift variant c.7235delinsGT(p.Thr2412fs)in SRCAP gene,and the variant was further validated by Sanger sequencing.The mother of the proband was referred to us for prenatal consultation during next pregnancy.We performed prenatal genetic diagnosis for the fetus.The result of Sanger sequencing for c.7235delinsGT(p.Thr2412fs)in SRCAP gene showed that the fetus did not carry the variant,so the fetus has been born successfully.The newborn does not show any similar symptom to the proband till one month.CONCLUSION This case confirms that the c.7235delinsGT(p.Thr2412fs)variant in the SRCAP gene is associated with FHS and expands the spectrum of SRCAP variants.
文摘Introduction Aortic arch anomalies are congenital malformations of the position or branching of the aortic arch,or both.Double aortic arch(DAA)is a very rare malformation,affecting approximately 0.005%~0.007% of fetuses[1],and there has been no relevant literature mentioning the prenatal finding DAA in Macao till now.
基金supported by the funding from the National High Technology Research and Development Program of China (863 Program) to Huijun Yuan (No.2007AA02E466)Key Project of National Natural Science Foundation of China to Huijun Yuan (Nos.81030017, 30571018) and Xuezhong Liu (No. 30528025)
文摘We present the clinical and genetic findings for a Chinese family with X-linked non-syndromic hearing loss in which the affected males showed congenital profound sensorineural hearing impairment. In two affected brothers, the computer tomography of temporal bone showed bilateral dilation of the internal auditory canal with fistulous communication between the lateral canal and the basal cochlear turn, which is consistent with the typical DFNX2 phenotype. A missense mutation （c.647G→A） in the POU3F4 gene caused a substitu- tion from glycine to glutamic acid at position 216 （p.G216E）, and this mutation was found to consistently cosegregate with the deafness phenotype in the family. The mutation resulted in the loss of function of the POU3F4 by decreasing the affinity between the protein and DNA, as shown in silico by the structural analysis. Prenatal diagnosis of pregnant proband of this family revealed the c.647G→A mutation in DNA extracted from the amniotic fluid surrounding the fetus. The appropriate use of genetic testing and prenatal diagnosis plays a key role in reducing the recurrence of genetic defects in high-risk families.
文摘The last two decades have seen continuous advances in prenatal ultrasonography and in utero magnetic resonance imaging. These technologies have increasingly enabled the identification of various spinal pathologies during early stages of gestation. The purpose of this paper is to review the range of fetal spine anomalies and their management, with the goal of improving the clinician's ability to counsel expectant parents prenatally.
基金partially supported by grants from the National Natural Science Foundation of China(Nos.81472871 and31230046)the Natural Science Foundation of Beijing(No.7132073)the State Key Laboratory of Molecular Developmental Biology of China(No.2013-MDB-KF-03)
文摘Oculocutaneous albinism（OCA） is an autosomal recessive disorder characterized by hypopigmentation in eyes,hair and skin,accompanied with vision loss.Currently,six genes have been identified as causative genes for non-syndromic OCA（OCA-1w4,6,7）,and ten genes for syndromic OCA（HPS-1e9,CHS-1）.Genetic counseling of 51 Chinese OCA families（39 OCA-1 with mutations in the TYR gene,6 OCA-2 with mutations in the OCA2 gene,4 OCA-4 with mutations in the SLC45A2 gene,1 HPS-1（Hermanskye Pudlak syndrome-1） with mutation in the HPS1 gene,and 1 mixed OCA-1 and OCA-4） led us to perform the prenatal genetic testing of OCA using amniotic fluid cells through the implementation of our optimized strategy.In our cohort,eleven previously unidentified alleles（PUAs）（5 in TYR,2 in OCA2,and 4 in SLC45A2） were found.Three missense PUAs（p.C112 R,p.H363 R and p.G379 V of TYR） and one in-frame deletional PUA（p.S222 del of SLC24A5） led to fetuses with OCA when co-inherited with other disease causative alleles.Three PUAs（p.P152 H and p.W272 X of TYR,p.A486 T of SLC24A5） identified in the OCA probands did not co-transmit with known pathological alleles and thus gave rise to unaffected fetuses.Four PUAs（p.Q83 X and p.A658 T of TYR,p.G161 R and p.G366 R of SLC24A5） did not transmit to the unaffected fetuses.In addition,the in vitro transfection assays showed that the p.S192 Y variant of TYR produced less pigment compared to the wild-type allele.A fetus with a digenic carrier of OCA-1 and OCA-4 was unaffected.In combination with functional assays,the family inheritance pattern is useful for the evaluation of pathogenicity of PUAs and genetic counseling of OCA.
基金Project supported by the Start-up Fund for Study-abroad Returnee, Ministry of Education, China
文摘Objective: To study the value of detecting fetal congenital heart disease (CHD) using the five transverse planes technique of fetal echocardiography. Methods: Nine hundred and eighty-two high-risk pregnancies for fetal CHD were included in this study, the fetal heart was scanned with the five transverse planes technique of fetal echocardiography described by Yagel, autopsy was conducted when pregnancy was terminated. Blood from fetal heart was collected for fetal chromosome analysis. A close follow-up was given for normal fetal heart pregnancies and neonatal echocardiography was performed to check the accuracy of prenatal diagnosis. Results: (1) Forty-six cases (4.68%) were found to have fetal heart abnormalities in this study, 69.56% of them were diagnosed by single four-chamber view, another 30.43% fetal CHD were found by combining other views; (2) Forty-one parents of prenatal fetuses with CHD chose to terminate pregnancy, thirty-two of them gave consent to conduct autopsy, 93.75% of which yielded unanimous conclusion between prenatal fetal echocardiography and autopsy; (3) Thirty-two of 46 cases underwent fetal chromosome analysis, 8 cases (25%) were found to have abnormal chromosome; (4) Five cases were found to have right ventricle and atrium a little bigger than those on the left side, with the unequal condition being the same after birth, but there were no clinical manifestations and they are healthy for the time being; (5) Nine hundred and thirty-six cases were not found with abnormality in this study, but one case was diagnosed with ventricular septal defect after birth, one case was diagnosed with patent ductus arteriosus, one case had atrial septal defect after birth. Conclusions: (1) The detected CHD rate was 4.68% by screening fetal heart with five transverse planes according to Yagel’s description of high risk population basis for CHD. The coinciding rate of prenatal diagnosis and autopsy was 93.75%; (2) The sensitivity of detecting fetal heart abnormality is 92%, the specificity is 99.6% using the five transverse planes technique of fetal echocardiography; (3) Fetuses with mild or moderate disproportion of right and left side in the heart are potentially healthy babies.
基金supported by grants from Health Department of Hubei Province (No. QJX2008-28)Science and Technology Bureau of Wuhan (No. 200760423158)Population and Family Planning Commission of Wuhan, China (No. WRJK0906)
文摘This study examined the methylation difference in AIRE and RASSF1A between maternal and placental DNA, and the implication of this difference in the identification of free fetal DNA in maternal plasma and in prenatal diagnosis of trisomy 21. Maternal plasma samples were collected from 388 singleton pregnancies, and placental or chorionic villus tissues from 112 of them. Methylation-specific PCR （MSP） and methylation-sensitive restriction enzyme digestion followed by fluorescent quantitative PCR （MSRE ＋ PCR） were employed to detect the maternal-fetal methylation difference in AIRE and RASSF1A. Diagnosis of trisomy 21 was established according to the ratio of fetal-specific AIRE to RASSF1A in maternal plasma. Both methods confirmed that AIRE and RASSF1A were hypomethylated in maternal blood cells but hypermethylated in placental or chorionic villus tissues. Moreover, the differential methylation for each locus could be seen during the whole pregnant period. The positive rates of fetal AIRE and RASSF1A in maternal plasma were found to be 78.1% and 82.1% by MSP and 94.8% and 96.9% by MSRE ＋ PCR. MSRE ＋ PCR was superior to MSP in the identification of fetal-specific hypermethylated sequences （P〈0.05）. Based on the data from 266 euploidy pregnancies, the 95% reference interval of the fetal AIRE/RASSF1A ratio in maternal plasma was 0.33-1.77, which was taken as the reference value for determining the numbers of fetal chromosome 21 in 102 pregnancies. The accu-racy rate in 98 euploidy pregnancies was 96.9% （95/98）. Three of the four trisomy 21 pregnancies were confirmed with this method. It was concluded that hypermethylated AIRE and RASSF1A may serve as fetal-specific markers for the identification of fetal DNA in maternal plasma and may be used for noninvasive prenatal diagnosis of trisomy 21.
基金supported by a grant from Guangzhou Medical University in China,No. 2010-2012
文摘In our previous study, we reported that prenatal restraint stress could induce cognitive deficits, which correlated with a change in expression of growth-associated protein 43 in the hippocampus. In this study, we investigated the effects of enriched environment on cognitive abilities in prenatally stressed rat offspring, as well as the underlying mechanisms. Reverse transcription-PCR and western blot assay results revealed that growth-associated protein 43 mRNA and protein levels were upregulated on postnatal day 15 in the prenatal restraint stress group. Growth-associated protein 43 expression was significantly lower in the prenatal restraint stress group compared with the negative control and prenatal restraint stress plus enriched environment groups on postnatal days 30 and 50. Morris water maze test demonstrated that cognitive abilities were noticeably increased in rats from the prenatal restraint stress plus enriched environment group on postnatal day 50. These results indicate that enriched environment can improve the spatial learning and memory ability of prenatally stressed offspring by upregulating growth-associated protein 43 expression.
基金supported by the National Natural Science Foundation of China(81101655)the grant from the China Postdoctoral Science Foundation(2011M501282)the grant from Hunan Provincial Science&Tecnology Departemnt(2009SK3048)
文摘Objective To identify and determine the optimal method to screening for fetal Down's syndrome(DS).Methods Three large cohorts with 17118,39903,16646 subjects were enrolled for the first trimester double marker(pregnancy-associated plasma protein A and free[B-human chorionic gonadotropin)screening(FTDMS),second trimester double marker(c{-fetoprotein and free B-human chorionic gonadotropin)screening(STDMS),and second trimester triple marker(a-fetoprotein,free 13-human chorionic gonadotropin and unconjugated estriol 3)screening(STTMS),respectively.The sensitivity,specificity,false positive rate(FPR),false negative rate(FNR)and the areas under ROC curves(AUCs)were estimated in order to determine the optimal screening method in women under or above 35 years old.Results For women under 35 years old,STTMS was the best method with a detection rate of 68.8%and FPR of 4.3%followed by the STDMS with a detection rate(sensitivity)of 66.7%and FPR of 4.9%.The FTDMS had a lower detection rate of 61.1%and FPR of 6.3%.For women above 35 years old,the detection rate of all the methods was similar,but STTMS method had a lowest FPR of 15.9%.For women under 35 years old AUCs were 0.77(95%CI,0.64 to 0.91),0.81(95%CI,0.71 to 0.91),and 0.82(95%CI,0.69 to 0.96)for FTDMS,STDMS,and STTMS methods,respectively;for those above 35 years old,AUCs were 0.70(95%CI,0.56 to 0.83),0.70(95%CI,0.59 to 0.82),0.78(95%Cl,0.58 to 0.97)for FTDMS,STDMS and SITMS,respectively.Conclusion Findings from our study revealed that STDMS is optimal for the detection of fetal DS in pregnant women aged under 35.For individual women,if economic condition permits,STFMS is the best choice,while for women aged above 35,STTMS is the best choice in this regard.
基金NIDDK,No.5R01DK111819-03 and No.5R01DK032346-28National Natural Science Foundation of China,No.81571326.
文摘BACKGROUND Chronic stress during pregnancy may increase visceral hyperalgesia of offspring in a sex-dependent way.Combining adult stress in offspring will increase this sensitivity.Based on the evidence implicating estrogen in exacerbating visceral hypersensitivity in female rodents in preclinical models,we predicted that chronic prenatal stress(CPS)+chronic adult stress(CAS)will maximize visceral hyperalgesia;and that estrogen plays an important role in colonic hyperalgesia.AIM The aim was to illuminate the role of estrogen in colonic hyperalgesia and its underlying mechanisms.METHODS We established a CPS plus CAS rodent model in which the balloon was used to distend the colorectum.The single-fiber recording in vivo and patch clamp experiments in vitro were used to monitor the colonic neuron’s activity.The reverse transcription-polymerase chain reaction,western blot,and immunofluorescence were used to study the effects of CPS and CAS on colon primary afferent sensitivity.We used ovariectomy and letrozole to reduce estrogen levels of female rats respectively in order to assess the role of estrogen in female-specific enhanced primary afferent sensitization.RESULTS Spontaneous activity and single fiber activity were significantly greater in females than in males.The enhanced sensitization in female rats mainly came from lowthreshold neurons.CPS significantly increased single-unit afferent fiber activity in L6-S2 dorsal roots in response.Activity was further enhanced by CAS.In addition,the excitability of colon-projecting dorsal root ganglion(DRG)neurons increased in CPS+CAS rats and was associated with a decrease in transient Atype K+currents.Compared with ovariectomy,treatment with the aromatase inhibitor letrozole significantly reduced estrogen levels in female rats,confirming the gender difference.Moreover,mice treated with letrozole had decreased colonic DRG neuron excitability.The intrathecal infusion of estrogen increased brain-derived neurotrophic factor(BDNF)protein levels and contributed to the response to visceral pain.Western blotting showed that nerve growth factor protein was upregulated in CPS+CAS mice.CONCLUSION This study adds to the evidence that estrogen-dependent sensitization of primary afferent colon neurons is involved in the development of chronic stress-induced visceral hypersensitivity in female rats.
基金provided by the National Natural Science Foundation of China(No 81571318 to XQSNo 81371472 to LXL+5 种基金No 81401110 to XL)the Science and Technology Planning Project of Health and Family Planning Commission(No 201501015 to XQS)the International Science and Technology Cooperation Program of Henan(No 162102410061 to XQS)the Henan Province Union Fund Project(162300410275)the Zhengzhou University doctor team projectthe Youth Fund of the First Affiliated Hospital of Zhengzhou University(to XL and LJP)
文摘Background The well-known ‘pyrotherapy’ of Julius Wagner-Jauregg might be the beginning of the study on the immunological concepts of schizophrenia. As the primary immune effector cells in the brain, microglia play a pivotal role in neuroinfammatory processes. Maternal viral infection during pregnancy is associated with an increased risk for psychiatric disorders with presumed neurodevelopmental origin, including autism spectrum disorders and schizophrenia. The present study was to quantify microglia activation in vivo in the mature offspring of rats exposed to polyriboinosinic–polyribocytidilicacid （Poly I：C） during pregnancy using ^11C-PK11195 positron emission tomography （PET） and immunohistochemistry.Objective The study aimed to quantify microglia activation in vivo in the prefrontal cortex and hippocampus in mature offspring of prenatal Poly I：C exposed rats.Methods Offspring of Poly I：C-treated dams were the model group, offspring of saline-treated dams were the control group. Behavioural test for two groups was taken by spontaneous activity, prepulse inhibition （PPI） and latent inhibition （LI） test （including active avoidance conditioning task and passive avoidance conditioning task）. Randomly selected successful model rats were assessed by behavioural test in the model group and control group rats. 11C-PK11195 micro-PET/CT and immunohistochemistry were performed on the selected rats to measure microglia activation.Results The treatment group showed hyperlocomotion and defcits in PPI and LI compared with the control group. The treatment group also showed an increased 11C-PK11195 uptake ratio in the prefrontal cortex （t=-3.990, p=0.003） and hippocampus （t=-4.462, p=0.001）. The number of activated microglia cells was signifcantly higher in the treatment group than in the control group （hippocampus： t=8.204, p〈0.001; prefrontal： t=6.995, p〈0.001）. Within the treatment group, there were signifcant correlations between the behavioural parameters and the activation of microglia as measured by PET and immunohistochemistry.Conclusions The present study demonstrated microglia activation in vivo in the prefrontal cortex and hippocampus in mature offspring of prenatal Poly I：C exposed rats. This study suggests that microglia activation may play a possible or potential role in the pathogenesis of schizophrenia.
文摘Choledochal cysts are congenital anomalies of the biliary ducts, characterized by cystic dilatation of the ducts.Prenatal diagnosis of this anomaly using ultrasonography (US) has been well documented. Magnetic resonance imaging (MRI) has recently become an important complement to US in prenatal diagnosis of fetal anomalies. We herein report a patient in whom at 24 wk' gestation US suggested a right upper quadrant abdominal cyst and in whom at 26 wk' gestation MRI more clearly delineated the cyst and its surrounding structures and suggested a choledochal cyst, which was confirmed at postnatal surgery and histopathology.
