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Relationship Between Gene-Phenotype and Clinical Manifestations of Chromosomal Copy Number Variations Indicated by Non-Invasive Prenatal Testing
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作者 Zixin Pi Xiaoyan Duan +1 位作者 Jing Peng Yanhui Liu 《Journal of Clinical and Nursing Research》 2024年第1期88-95,共8页
Objective:To analyze the clinical value of non-invasive prenatal testing(NIPT)in detecting chromosomal copy number variations(CNVs)and to explore the relationship between gene expression and clinical manifestations of... Objective:To analyze the clinical value of non-invasive prenatal testing(NIPT)in detecting chromosomal copy number variations(CNVs)and to explore the relationship between gene expression and clinical manifestations of chromosomal copy number variations.Methods:3551 naturally conceived singleton pregnant women who underwent NIPT were included in this study.The NIPT revealed abnormalities other than sex chromosome abnormalities and trisomy 13,18,and 21.Pregnant women with chromosome copy number variations underwent genetic counseling and prenatal ultrasound examination.Interventional prenatal diagnosis and chromosome microarray analysis(CMA)were performed.The clinical phenotypes and pregnancy outcomes of different prenatal diagnoses were analyzed.Additionally,a follow-up was conducted by telephone to track fetal development after birth,at six months,and one year post-birth.Results:A total of 53 cases among 3551 cases showed chromosomal copy number variation.Interventional prenatal diagnosis was performed in 36 cases:27 cases were negative and 8 were consistent with the NIPT test results.This indicates that NIPT’s positive predictive value(PPV)in CNVs is 22.22%.Conclusion:NIPT has certain clinical significance in screening chromosome copy number variations and is expected to become a routine screening for chromosomal microdeletions and microduplications.However,further interventional prenatal diagnosis is still needed to identify fetal CNVs. 展开更多
关键词 Non-invasive prenatal testing Chromosomal copy number variation Chromosomes 1 and 3 Chromosome 4 Chromosome 7 Chromosome 15 prenatal diagnosis
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Prenatal Diagnosis of an Apically Located Congenital Left Ventricular Aneurysm: A Rare Case
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作者 Yücel Kaya And Yavuz +3 位作者 Hasan Berkan Sayal Büşra Tsakir Gökalp Kabacaoğlu Kadriye NilayÖzcan 《Congenital Heart Disease》 SCIE 2024年第1期123-129,共7页
Congenital ventricular aneurysm is a very rare cardiac anomaly.A diagnosis can be made during the prenatal period using fetal echocardiography.This study presents a very rare apically located left ventricular aneurysm... Congenital ventricular aneurysm is a very rare cardiac anomaly.A diagnosis can be made during the prenatal period using fetal echocardiography.This study presents a very rare apically located left ventricular aneurysm case,and the relevant literature was reviewed and discussed.In this case,a 35-year-old,gravida 2,parity 1 preg-nant woman at 24 weeks of gestation,displayed a wide aneurysmal image in the left ventricular apical wall on fetal echocardiography.There was a 1.79 mm muscular ventricular septal defect at the apical region of the interven-tricular septum.In the course of the color Doppler ultrasonography examination,an aberrantfibrous band within the left ventricle and consequent turbulentflow during systole were observed.The baby,born via cesarean section at 37 weeks of gestation,is now in its postnatal seventh month.However,during echocardiographic follow-ups,changes have been observed,including mild to moderate mitral insufficiency and a decrease in systolic function.Despite thesefindings,the clinical condition remains asymptomatic.It is of great importance to use a multidis-ciplinary approach in managing these rare cases that could lead to potential adverse outcomes during the antena-tal or postnatal periods. 展开更多
关键词 Heart aneurysm prenatal diagnosis ECHOCARDIOGRAPHY congenital heart defects left ventricle
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Clinical manifestations and the prenatal diagnosis of trisomy 7 mosaicism:Two case reports
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作者 Fei Hou Yan Li Hua Jin 《World Journal of Clinical Cases》 SCIE 2024年第8期1544-1548,共5页
BACKGROUND The clinical manifestations of trisomy 7 mosaicism are diverse and nonspecific,so prenatal diagnosis is very difficult.CASE SUMMARY Two pregnant women with abnormal prenatal screening results were included.... BACKGROUND The clinical manifestations of trisomy 7 mosaicism are diverse and nonspecific,so prenatal diagnosis is very difficult.CASE SUMMARY Two pregnant women with abnormal prenatal screening results were included.One was a 22-year-old woman(G1P0).At 31st week of gestation,ultrasound revealed that the posterior horn of the left lateral ventricle was 10 mm and the right renal pelvis had a separation of 7 mm.The other pregnant woman was 33 years old(G2P1L1A0),and her fetus was found to have a cardiac malformation at the 24th week of gestation.Copy number variation sequencing,whole-exome sequencing and karyotype analysis were carried out after amniocentesis,and both fetuses were diagnosed with trisomy 7 mosaicism.After parental counseling,one woman continued the pregnancy,and the other woman terminated the pregnancy.CONCLUSION In trisomy 7 mosaicism,the low proportion of trisomy does not lead to abortion,but can result in abnormal fetal development,which can be detected via ultrasound.Therefore,clinicians need to pay more attention to various aspects of fetal growth and development,combining with imaging,cellular,molecular genetics and other methods to perform comprehensive evaluations of fetuses to provide more reliable genetic counseling for pregnant women. 展开更多
关键词 Trisomy 7 mosaicism Copy number variation sequencing Whole-exome sequencing Karyotype analysis prenatal diagnosis Case report
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Prenatal programing of motivated behaviors:can innate immunity prime behavior?
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作者 Larisa Montalvo-Martínez Gabriela Cruz-Carrillo +3 位作者 Roger Maldonado-Ruiz Luis ATrujillo-Villarreal Eduardo AGarza-Villarreal Alberto Camacho-Morales 《Neural Regeneration Research》 SCIE CAS CSCD 2023年第2期280-283,共4页
Prenatal programming during pregnancy sets physiological outcomes in the offspring by integrating external or internal stimuli.Accordingly,pregnancy is an important stage of physiological adaptations to the environmen... Prenatal programming during pregnancy sets physiological outcomes in the offspring by integrating external or internal stimuli.Accordingly,pregnancy is an important stage of physiological adaptations to the environment where the fetus becomes exposed and adapted to the maternal milieu.Maternal exposure to high-energy dense diets can affect motivated behavior in the offs p ring leading to addiction and impaired sociability.A high-energy dense exposure also increases the pro-inflammatory cytokines profile in plasma and brain and favors microglia activation in the offspring.While still under investigation,prenatal exposure to high-energy dense diets promotes structural abnormalities in selective brain regions regulating motivation and social behavior in the offspring.The current review addresses the role of energy-dense foods programming central and peripheral inflammatory profiles during embryonic development and its effect on motivated behavior in the offspring.We provide preclinical and clinical evidence that supports the contribution of prenatal programming in shaping immune profiles that favor structural and brain circuit disruption leading to aberrant motivated behaviors after birth.We hope this minireview encourages future research on novel insights into the mechanisms underlying maternal programming of motivated behavior by central immune networks. 展开更多
关键词 ADDICTION AUTISM BEHAVIOR cytokines diet maternal immune activation prenatal programming SOCIABILITY trained immunity western-diets
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Determination of the ovine ovarian reserve during the prenatal and neonatal periods
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作者 Isam B.Sharum 《Asian pacific Journal of Reproduction》 2023年第4期194-200,共7页
Objective:To determine the ovine ovarian histomorphology and follicular staging at various age periods in Awassi breed.Methods:Ovaries were collected from prenatal fetuses[gestational age(95±5)days],neonatal(day ... Objective:To determine the ovine ovarian histomorphology and follicular staging at various age periods in Awassi breed.Methods:Ovaries were collected from prenatal fetuses[gestational age(95±5)days],neonatal(day 0),and prepubertal ewe lambs(two and four months of age);each age group included six animals.Ovaries(n=12,each group)were dissected and processed for hematoxylin and eosin staining.Stained sections(n=24,each group)were imaged and utilized for histomorphology assessment,follicle measurement,and classification.Results:Prenatal ovaries were mainly enriched with primordial follicles accompanied by a lower proportion of primary follicles.In addition to primordial and primary follicles,neonatal ovaries demonstrated a proportion of centrally located multilayered and antral follicles.In comparison with neonatal ovaries,the proportion of multilayered and antral follicles was significantly higher in the ovaries of two-month-old lambs;conversely,the proportion of peripherally situated primordial follicles dramatically declined compared to that of earlier age of lamb.Although there was no statistical variation in the sizes of primordial follicles across groups,the mean diameter of the primary follicle in the prenatal ovaries was substantially smaller than in postnatal ovaries.Compared to the neonatal ovaries,the size of the multilayered and antral follicles in the prepubertal ovaries was substantially larger.Conclusions:The earliest follicular developmental stages were established prenatally whereas the advanced growth stages started in the neonatal period and greatly increased in the prepubertal period. 展开更多
关键词 prenatal ovine ovary Prepubertal ovine ovary Ovarian histomorphology Immature ewe lamb ovary Ovine ovarian reserve Follicle staging Ovarian follicular growth
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Confusing finding of quantitative fluorescent polymerase chain reaction analysis in invasive prenatal genetic diagnosis:A case report
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作者 Cui Chen Tao Tang +2 位作者 Qi-Ling Song Yong-Jun He Yan Cai 《World Journal of Clinical Cases》 SCIE 2023年第28期6895-6901,共7页
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 di... 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. 展开更多
关键词 Quantitative fluorescent polymerase chain reaction Copy number variation sequencing prenatal diagnosis Partial duplication KARYOTYPING Case report
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Prenatal ultrasound diagnosis of congenital infantile fibrosarcoma and congenital hemangioma: Three case reports
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作者 Ru-Na Liang Jue Jiang +9 位作者 Jie Zhang Xi Liu Miao-Yan Ma Qian-Long Liu Li Ma Lei Zhou Yun Wang JuanWang Qi Zhou Shan-Shan Yu 《World Journal of Clinical Cases》 SCIE 2023年第30期7403-7412,共10页
BACKGROUND Congenital infantile fibrosarcoma(CIF)and congenital hemangioma(CH)have similarities on prenatal ultrasound and are rare.CASE SUMMARY We report 3 cases of fetuses with superficial hypervascular tumors,confi... BACKGROUND Congenital infantile fibrosarcoma(CIF)and congenital hemangioma(CH)have similarities on prenatal ultrasound and are rare.CASE SUMMARY We report 3 cases of fetuses with superficial hypervascular tumors,confirmed by postnatal pathology as CIF(1 case)and CH(2 cases,including 1 in a twin fetus).In Case 1,a mass with a rich blood supply in the fetal axilla was discovered by prenatal ultrasound at 28+0 wk of gestation.The postpartum pathological diagnosis was CIF,the mass was surgically removed,and the prognosis of the child was good.In Case 2,at 23+1 wk of gestation,a mass was discovered at the base of the fetus’s thigh on prenatal ultrasound.The postpartum pathological diagnosis was CH.After conservative treatment,the mass shrank significantly.Case 3 occurred in a twin fetus.At 30+0 wk of gestation,prenatal ultrasound revealed a bulging mass with a rich blood supply on the abdominal wall of one of the fetuses.Three weeks later,the affected fetus died,and the unaffected baby was successfully delivered by emergency cesarean section.The affected fetus was pathologically diagnosed with CH.CONCLUSION Prenatal ultrasound can provide accurate information,such as the location,size and blood supply of a surface mass in a fetus.We found similarities between CIF and CH in prenatal ultrasound findings.Although it is difficult to distinguish these conditions by prenatal ultrasound alone,for superficial hypervascular tumors that rapidly increase in size in a short period,close ultrasound monitoring of the fetus is required to quickly address possible adverse outcomes. 展开更多
关键词 Congenital infantile fibrosarcoma Congenital hemangiomas prenatal ultrasound Fetal tumor Case report
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The effect of risk perception and COVID‑19 anxiety in pregnancy on decision‑making via the Internet and prenatal care quality:A cross‑sectional multivariate analysis
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作者 Ayşe Taştekin OUYABA Şehadet TAŞKIN 《Journal of Integrative Nursing》 2023年第1期27-32,共6页
Background:Risk perception and COVID‑19 anxiety in pregnant women restrict access to health services,cause pregnant women to resort to alternative channels such as the Internet,and affect prenatal care quality(PCQ)neg... Background:Risk perception and COVID‑19 anxiety in pregnant women restrict access to health services,cause pregnant women to resort to alternative channels such as the Internet,and affect prenatal care quality(PCQ)negatively.Purpose:The purpose of this study was to examine the effect of risk perception and COVID‑19 anxiety in pregnancy on decision‑making via the Internet(DMI)and PCQ with multivariate analysis.Materials and Methods:This cross‑sectional study was conducted with 406 pregnant women selected using the convenience sampling method in a training and research hospital,in Turkey.The data were collected using the information form,the perception of pregnancy risk questionnaire,the Coronavirus Anxiety Scale,the DMI Scale,and the PCQ Scale.The data obtained were subject to descriptive analysis and the multivariate analysis of variance.Results:Approximately 24.9%of the pregnant women were found to have a high perception of risk and 18%had symptoms of COVID‑19 anxiety.Pregnant women with high COVID‑19 anxiety and a higher perception of risk perceived the Internet as less influential for decision‑making(P<0.05).Pregnant women with a high‑risk perception had lower PCQ(P<0.05).Conclusion:The findings can be used to enhance mental health and resilience in pregnant women and to formulate appropriate intervention strategies. 展开更多
关键词 COVID-19 anxiety decision-making via the Internet perception of risk PREGNANCY prenatal care quality
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Prenatal radiographic evaluation of congenital transverse limb deficiencies:A scoping review
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作者 Neeraj Vij Luis F Goncalves +2 位作者 Aaron Llanes Sean Youn Mohan V Belthur 《World Journal of Orthopedics》 2023年第3期155-165,共11页
BACKGROUND Congenital transverse deficiencies are horizontal deficiencies of the long bones that occur with a reported incidence as high 0.38%.They can occur alone or represent a manifestation of a various clinical sy... BACKGROUND Congenital transverse deficiencies are horizontal deficiencies of the long bones that occur with a reported incidence as high 0.38%.They can occur alone or represent a manifestation of a various clinical syndromes.Diagnosis has tradi-tionally comprised of conventional radiography and prenatal imaging studies.There has been much advancement regarding prenatal imaging modalities to allow for early diagnosis and appropriate treatment.AIM To summarize the current state of knowledge on congenital transverse limb deficiencies and to provide an update regarding the radiographic evaluation of congenital transverse limb deficiencies.METHODS This IRB-exempt scoping review followed the PRISMA-ScR checklist for scoping reviews strictly.Five search engines were searched for a total of 265 publications.Four authors reviewed these during the screening process.Of these,51 studies were included in our article.Prenatal magnetic resonance imaging(MRI),3D Ultrasound,and multidetector Computed tomography(CT)exist are emerging modalities that have the potential to improve diagnosis.RESULTS Use of the appropriate classification system,three-dimensional ultrasonography with a maximum intensity projection,and appropriate use of prenatal MRI and prenatal CT can improve diagnosis and inter-provider communication.CONCLUSION Further scholarly efforts are required to develop improve standardized guidelines regarding the pre-natal radiographic evaluation of congenital limb deficiencies. 展开更多
关键词 Terminal deficiencies Roentgenographic evaluation Pediatric skeletal deficiencies Early diagnosis Patient-centered care prenatal imaging©The Author(s)2023.Published by Baishideng Publishing Group Inc.All rights reserved.
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Determinants of the Frequency of Prenatal Consultations among Women Giving Birth in the Maternity Wards of the Commune of Agbangnizoun (Zou), Benin
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作者 Klikpézo Roger Hounkponou Nouéssewa Fanny Maryline +8 位作者 Atadé Sèdjro Raoul Dangbemey Djima Patrice Flénon-Yévidé Aubierge Joelle Ahouingnan Yeyinou Salifou Badaryatou Enassouan Marius Joseph Flénon Ouendo Marius Salifou Kabibou 《Open Journal of Obstetrics and Gynecology》 2023年第7期1127-1132,共6页
Antenatal care is a safe way to prevent pregnancy-related health problems, difficult deliveries and even further to anticipate low birth weight [1]. But pregnant women, especially in Africa, do not attend antenatal cl... Antenatal care is a safe way to prevent pregnancy-related health problems, difficult deliveries and even further to anticipate low birth weight [1]. But pregnant women, especially in Africa, do not attend antenatal clinics as recommended by the WHO. The general objective of this study was to study the norm in terms of Antenatal Consultation (ANC) frequency as well as the determinants of the frequency among women who gave birth in the maternity hospitals of Agbangnizoun. Our research was a cross-sectional, descriptive, retrospective and quantitative type, which was carried out among 335 women in Agbangnizoun, Benin from 1 February to 3 April 2020 (3 months), in order to find out the general or specific characteristics of women that we associate with the frequency of prenatal consultation. At the end of the study, we found that 60%, 68% and 15% of the surveyed population had received ANC in the first, second and third trimesters, respectively. Ethnicity, income level of spouses over the three trimesters as well as the level of their knowledge and overall practice of ANC are determinants of the frequency of prenatal consultation. 展开更多
关键词 Determinants FREQUENCY prenatal Consultation Agbangnizoun Zou BENIN
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Prenatal Diagnosis and Management of Fetal Goiter Treated Successfully with Intra-Amniotic Levothyroxine
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作者 Valentina Corda Cristina Peddes +1 位作者 Ambra Iuculano Giovanni Monni 《Open Journal of Obstetrics and Gynecology》 2021年第1期48-52,共5页
Goiter is an enlargement of the thyroid gland which can be associated with a number of complications both for the mother and the fetus. A 34-year-old pregnant woman with normal thyroid function was referred to our Dep... Goiter is an enlargement of the thyroid gland which can be associated with a number of complications both for the mother and the fetus. A 34-year-old pregnant woman with normal thyroid function was referred to our Department of Obstetrics and Gynecology at Microcitemico Pediatric Hospital, Cagliari, for suspected fetal goiter at 32 gestational weeks. The case was monitored regularly by ultrasound and treated successfully with intra-amniotic levothyroxine (L-T4) administration. Fetal goiter was observed to decrease after this treatment and the thyroid ultrasound findings were also normal both at birth and in subsequent follow-ups. Our case report confirms the feasibility of conservative treatment with L-T4, which can effectively prevent complications related to fetal goiter. 展开更多
关键词 Fetal Goiter prenatal Diagnosis prenatal Therapy AMNIOCENTESIS Fetal Thyroid Fetal Ultrasound Levothyroxine (L-T4)
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Prenatal diagnosis and assessment of congenital spinal anomalies: Review for prenatal counseling 被引量:4
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作者 Vidyadhar V Upasani Pamela Deaver Ketwaroo +3 位作者 Judy A Estroff Benjamin C Warf John B Emans Michael P Glotzbecker 《World Journal of Orthopedics》 2016年第7期406-417,共12页
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
关键词 prenatal ultrasound In utero magnetic RESONANCE imaging prenatal COUNSELING CONGENITAL SPINAL ANOMALIES
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Estrogen augmented visceral pain and colonic neuron modulation in a double-hit model of prenatal and adult stress 被引量:2
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作者 Jing-Hong Chen Ying Sun +3 位作者 Pei-Jun Ju Jin-Bao Wei Qing-Jie Li John H Winston 《World Journal of Gastroenterology》 SCIE CAS 2021年第30期5060-5075,共16页
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
关键词 Chronic prenatal stress ESTROGEN Visceral pain Neuronal sensitization EXCITABILITY LETROZOLE
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Apert syndrome diagnosed by prenatal ultrasound combined with magnetic resonance imaging and whole exome sequencing:A case report 被引量:2
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作者 Lei Chen Fei-Xiang Huang 《World Journal of Clinical Cases》 SCIE 2021年第4期912-918,共7页
BACKGROUND Most cases of Apert syndrome(AS)are found after birth.Cases of AS diagnosed by ultrasound combined with magnetic resonance imaging(MRI)and whole exome sequencing(WES)during pregnancy are rare.CASE SUMMARY W... BACKGROUND Most cases of Apert syndrome(AS)are found after birth.Cases of AS diagnosed by ultrasound combined with magnetic resonance imaging(MRI)and whole exome sequencing(WES)during pregnancy are rare.CASE SUMMARY We present the case of a 34-year old female patient(gravida 2,para 1)whose fetus was diagnosed with AS during pregnancy.Fetal ultrasound performed at 30,2/7 wk of pregnancy showed abnormalities.MRI and three-dimensional ultrasound performed at 31,1/7 wk of pregnancy showed the possibility of AS.Chromosome examination and core family WES were conducted at 31,5/7 wk of pregnancy.The results showed that FGFR2 in the fetus had a c.755C>G missense mutation in its nucleotide,and AS was confirmed.CONCLUSION This case highlights the importance of imaging examinations.Prenatal ultrasound combined with MRI can identify fetal morphological abnormalities accurately,which can be confirmed by WES. 展开更多
关键词 Apert syndrome prenatal ultrasound Magnetic resonance imaging Whole exome sequencing FGFR2 Case report
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Noninvasive Prenatal Testing for Fetal Chromosomal Abnormalities Using Massively Parallel Sequencing: Clinical Experience from 7910 Korean Pregnancies 被引量:2
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作者 Seon Young Yun Hyuk Jung Kwon +6 位作者 Amit Goyal Katiyar P. Shashank Heesu Im Joungsu Joo Jin-Sik Bae Min Seob Lee Sunghoon Lee 《Open Journal of Genetics》 2018年第3期42-53,共12页
Objective: The purpose of this study is to review the clinical experience and performance of noninvasive prenatal testing (NIPT) method, using cell-free DNAto detect chromosomes 21, 18, 13, X, and Y abnormalities in o... Objective: The purpose of this study is to review the clinical experience and performance of noninvasive prenatal testing (NIPT) method, using cell-free DNAto detect chromosomes 21, 18, 13, X, and Y abnormalities in over 7910 clinical samples from South Korean population. Method: Pregnant women between 1st of November 2015 to 18th of February 2018, with obstetric clinical findings participated in the study. NIPT was performed based on masivelly parallel sequencing with 0.3× low coverage paired-end sequencing using cell-free DNA in maternal plasma. Further invasive prenatal testing was recommended for pregnant women with positive NIPT results. Results: Of the total 7910 participants, 7890 (99.75%) were tested for NIPT and the remaining 20 (0.25%) were below the Quality Control (QC) standards. T13, T18, XXX, XXY and XYY had 100% of sensitivity, specificity, positive predictive values (PPV) and accuracy. The overall sensitivity was 100% and specificity, PPV and accuracy of all chromosomal abnormalities with further validation were 99.92%, 94.25%, and, 99.92% respectively. Conclusion: Our NIPT results showed high positive predictive value for the detection of autosomal trisomies and sex chromosome aneuploidies in our sample cohort. 展开更多
关键词 CELL-FREE DNA TRISOMY Clinical Performance MOSAICISM CPM FETAL Abnormality NONINVASIVE prenatal Testing NIPT
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Neurotoxicity of prenatal alcohol exposure on medullary pre-B?tzinger complex neurons in neonatal rats 被引量:1
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作者 Ming-li Ji Yun-hong Wu Zhi-bin Qian 《Neural Regeneration Research》 SCIE CAS CSCD 2015年第7期1095-1100,共6页
Prenatal alcohol exposure disrupts the development of normal fetal respiratory function, but whether it perturbs respiratory rhythmical discharge activity is unclear. Furthermore, it is unknown whether the 5-hydroxytr... Prenatal alcohol exposure disrupts the development of normal fetal respiratory function, but whether it perturbs respiratory rhythmical discharge activity is unclear. Furthermore, it is unknown whether the 5-hydroxytryptamine 2A receptor(5-HT2AR) is involved in the effects of prenatal alcohol exposure. In the present study, pregnant female rats received drinking water containing alcohol at concentrations of 0%, 1%, 2%, 4%, 8% or 10%(v/v) throughout the gestation period. Slices of the medulla from 2-day-old neonatal rats were obtained to record respiratory rhythmical discharge activity. 5-HT2 AR protein and m RNA levels in the pre-B?tzinger complex of the respiratory center were measured by western blot analysis and quantitative RT-PCR, respectively. Compared with the 0% alcohol group, respiratory rhythmical discharge activity in medullary slices in the 4%, 8% and 10% alcohol groups was decreased, and the reduction was greatest in the 8% alcohol group. Respiratory rhythmical discharge activity in the 10% alcohol group was irregular. Thus, 8% was the most effective alcohol concentration at attenuating respiratory rhythmical discharge activity. These findings suggest that prenatal alcohol exposure attenuates respiratory rhythmical discharge activity in neonatal rats by downregulating 5-HT2 AR protein and m RNA levels. 展开更多
关键词 nerve regeneration brain injury prenatal alcohol exposure pre-Botzinger complex respiratory depression neonatal rats medullary slice medullary respiratory center respiratory rhythmical discharge activity respiratory neuron 5-hydroxytryptamine 2A receptor neural regeneration
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Prenatal diagnosis of isolated lateral facial cleft by ultrasonography and three-dimensional printing:A case report 被引量:1
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作者 Wen-Ling Song Hai-Ou Ma +5 位作者 Yu Nan Yu-Jia Li Na Qi Li-Ying Zhang Xin Xu Yuan-Yi Wang 《World Journal of Clinical Cases》 SCIE 2021年第24期7196-7204,共9页
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 pre... 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. 展开更多
关键词 prenatal diagnosis Isolated lateral facial cleft Three-dimensional printing Facial malformations ULTRASONOGRAPHY Tessier No.7 facial cleft Case report
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Prenatal nicotine alters development of the laterodorsal tegmentum:Possible role for attention-deficit/hyperactivity disorder and drug dependence 被引量:1
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作者 Filip S Polli Kristi A Kohlmeier 《World Journal of Psychiatry》 SCIE 2022年第2期212-235,共24页
As we cycle between the states of wakefulness and sleep,a bilateral cholinergic nucleus in the pontine brain stem,the laterodorsal tegmentum(LDT),plays a critical role in controlling salience processing,attention,beha... As we cycle between the states of wakefulness and sleep,a bilateral cholinergic nucleus in the pontine brain stem,the laterodorsal tegmentum(LDT),plays a critical role in controlling salience processing,attention,behavioral arousal,and electrophysiological signatures of the sub-and microstates of sleep.Disorders involving abnormal alterations in behavioral and motivated states,such as drug dependence,likely involve dysfunctions in LDT signaling.In addition,as the LDT exhibits connectivity with the thalamus and mesocortical circuits,as well as receives direct,excitatory input from the prefrontal cortex,a role for the LDT in cognitive symptoms characterizing attention-deficit/hyperactivity disorder(ADHD)including impulsivity,inflexibility,and dysfunctions of attention is suggested.Prenatal nicotine exposure(PNE)is associated with a higher risk for later life development of drug dependence and ADHD,suggesting alteration in development of brain regions involved in these behaviors.PNE has been shown to alter glutamate and cholinergic signaling within the LDT.As glutamate and acetylcholine are major excitatory mediators,these alterations would likely alter excitatory output to target regions in limbic motivational circuits and to thalamic and cortical networks mediating executive control.Further,PNE alters neuronal development and transmission within prefrontal cortex and limbic areas that send input to the LDT,which would compound effects of differential processing within the PNE LDT.When taken together,alterations in signaling in the LDT are likely to play a role in negative behavioral outcomes seen in PNE individuals,including a heightened risk of drug dependence and ADHD behaviors. 展开更多
关键词 prenatal nicotine exposure Pregnancy outcome Addiction risk Laterodorsal tegmentum AROUSAL Attention
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Microglia activation in the offspring of prenatal Poly I:C exposed rats:a PET imaging and immunohistochemistry study 被引量:1
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作者 Xue Li Xin Tian +7 位作者 Luxian Lv Gangrui Hei Xufeng Huang Xiaoduo Fan Jinming Zhang Jianjiang Zhang Lijuan Pang Xueqin Song 《General Psychiatry》 CSCD 2018年第4期31-38,共8页
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 neuroinflammatory 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 l:C) during pregnancy using 11 C'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 l:C exposed rats.Methods Offspring of Poly l: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.11 C-PK11195 micro-PET/CT and immunohistochemistry were performed on the selected rats to measure microglia activation.Results The treatment group showed hyperlocomotion and deficits in PPI and LI compared with the control group. The treatment group also showed an increased11 C-PK11195 uptake ratio in the prefrontal cortex(f=-3.990, p=0.003) and hippocampus(f=-4.462,p=0.001). The number of activated microglia cells was significantly higher in the treatment group than in the control gro叩(hippocampus: f=8.204, p<0.001; prefrontal:f=6.995, p<0.001). Within the treatment group, there were significant 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 l: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
关键词 CT PET Microglia activation in the offspring of prenatal Poly I:C exposed rats:a PET imaging and immunohistochemistry study
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Relationship between prenatal care and the outcome of pregnancy in low-risk pregnancies 被引量:1
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作者 Tehereh Ashraf-Ganjoei Fatemeh Mirzaei Fatemeh Anari-Dokht 《Open Journal of Obstetrics and Gynecology》 2011年第3期109-112,共4页
Introduction: This study was conducted to evaluate the relationship between prenatal care and outcome of pregnancy. Method: This is a cross-sectional study on 210 pregnant women referring to Afzalipour Hospital for th... Introduction: This study was conducted to evaluate the relationship between prenatal care and outcome of pregnancy. Method: This is a cross-sectional study on 210 pregnant women referring to Afzalipour Hospital for their labor, consisting of 140 women with adequate care and 70 with inadequate care. The outcome of pregnancy for mother and newborn was compared between the two groups. Data were analyzed using SPSS software version 15. P value ≤ 0.05 was considered as significant and the power of statistical test was 80%. Findings: The findings indicate that the age of women with inadequate care was lower compared to those receiving adequate care (p = 0.003). Furthermore, women with inadequate care had lower education (p = 0.00007) and their prenatal care started in more advanced gestational ages (p = 0.0003). Neonates born to women with inadequate care tended to have lower birth weights (p = 0.05) and higher rates of admission to NICU (p = 0.02). Conclusion: Our findings indicate that women with lower age and education received less prenatal care and adequate prenatal care results in better birth weights and decreased rate of admission in NICU. 展开更多
关键词 prenatal Care MATERNAL COMPLICATIONS NEONATAL COMPLICATIONS
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