Prognosis of 591 Fetuses with Ultrasonic Soft Markers during Mid-Term Pregnancy

The present study aimed to examine the value of ultrasonic soft markers in prenatal screening by analyzing the clinical outcome of fetuses with ultrasonic soft markers during the second trimester of pregnancy. A retrospective analysis was performed to evaluate the outcome of 591 fetuses with ultrasonic soft markers from January 2015 to August 2016 in Zhongnan Hospital of Wuhan University, China. It was found that 591 fetuses showed ultrasonic soft markers in 4927 cases with the occurrence rate being 12.0%. Among them, 564 fetuses（95.4%） were delivered and the remaining 27 cases（4.6%） were aborted. Five hundred and sixty-seven cases had single ultrasonic soft marker, including echogenic intracardiac focus（n=343）, mild renal pelvis dilatation（n=116）, short long bones（n=72）, single umbilical artery（n=31）, mild lateral ventriculomegaly（n=21）, choroid plexus cysts（n=19）, and echogenic bowel（n=13）, with the disappearing rates in pregnancy being 97.1%（333/343）, 77.6%（90/116）, 0%（0/72）, 0%（0/31）, 57.1%（12/21）, 89.5%（17/19） and 61.5%（8/13） respectively. The rate of pregnancy termination due to single ultrasonic soft marker was 3.4%（19/567）, and that was 33.3%（8/24） due to two ultrasonic soft markers with the difference being statistically significant（P〈0.05）. The reasons of pregnancy termination included malformations（polycystic kidney, cleft lip and palate, congenital heart diseases, pcromphalus, hypospadias, hydrocephalus）, chromosome abnormality, and stillbirth. It was concluded that single ultrasonic soft marker is usually transient manifestation in pregnancy. Without the other structural defects, single ultrasonic soft marker usually disappears spontaneously with favorable prognosis in a low-risk population. It is suggested that ultrasonic soft markers should be appropriately interpreted to avoid unnecessary invasive examination.

Proteomic analysis of adipose tissue during the last weeks of gestation in pure and crossbred Large White or Meishan fetuses gestated by sows of either breed

Background: The degree of adipose tissue development at birth may influence neonatal survival and subsequent health outcomes. Despite their lower birth weights, piglets from Meishan sows(a fat breed with excellent maternal ability) have a higher survival rate than piglets from Large White sows(a lean breed). To identify the main pathways involved in subcutaneous adipose tissue maturation during the last month of gestation, we compared the proteome and the expression levels of some genes at d 90 and d 110 of gestation in purebred and crossbred Large White or Meishan fetuses gestated by sows of either breed.Results: A total of 52 proteins in fetal subcutaneous adipose tissue were identified as differential y expressed over the course of gestation. Many proteins involved in energy metabolism were more abundant, whereas some proteins participating in cytoskeleton organization were reduced in abundance on d 110 compared with d 90. Irrespective of age,24 proteins differed in abundance between fetal genotypes, and an interaction effect between fetal age and genotype was observed for 13 proteins. The abundance levels of proteins known to be responsive to nutrient levels such as aldolase and fatty acid binding proteins, as wel as the expression levels of FASN, a key lipogenic enzyme, and MLXIPL, a pivotal transcriptional mediator of glucose-related stimulation of lipogenic genes, were elevated in the adipose tissue of pure and crossbred fetuses from Meishan sows. These data suggested that the adipose tissue of these fetuses had superior metabolic functionality, whatever their paternal genes. Conversely, proteins participating in redox homeostasis and apoptotic cel clearance had a lower abundance in Meishan than in Large White fetuses. Time-course differences in adipose tissue protein abundance were revealed between fetal genotypes for a few secreted proteins participating in responses to organic substances, such as alpha-2-HS-glycoprotein, transferrin and albumin.Conclusions: These results underline the importance of not only fetal age but also maternal intrauterine environment in the regulation of several proteins in subcutaneous adipose tissue. These proteins may be used to estimate the maturity grade of piglet neonates.

Evaluation of right ventricular volume and systolic function in normal fetuses using intelligent spatiotemporal image correlation

BACKGROUND Heart defects are the most common congenital malformations in fetuses.Fetal cardiac structure and function abnormalities lead to changes in ventricular volume.As ventricular volume is an important index for evaluating fetal cardiovascular development,an effective and reliable method for measuring fetal ventricular volume and cardiac function is necessary for accurate ultrasonic diagnosis and effective clinical treatment.The new intelligent spatiotemporal image correlation(iSTIC)technology acquires high-resolution volumetric images.In this study,the iSTIC technique was used to measure right ventricular volume and to evaluate right ventricular systolic function to provide a more accurate and convenient evaluation of fetal heart function.AIM To investigate the value of iSTIC in evaluating right ventricular volume and systolic function in normal fetuses.METHODS Between October 2014 and September 2015,a total of 123 pregnant women received prenatal ultrasound examinations in our hospital.iSTIC technology was used to acquire the entire fetal cardiac volume with off-line analysis using QLAB software.Cardiac systolic and diastolic phases were defined by opening of the atrioventricular valve and the subsequent closure of the atrioventricular valve.The volumetric data of the two phases were measured by manual tracking and summation of multiple slices and recording of the right ventricular end-systolic volume and the right ventricular end-diastolic volume.The data were used to calculate the right stroke volume,the right cardiac output,and the right ejection fraction.The correlations of changes between the above-mentioned indices and gestational age were analyzed.The right ventricular volumes of 30 randomly selected cases were measured twice by the same sonographer,and the intraobserver agreement measurements were calculated.RESULTS Among the 123 normal fetuses,the mean right ventricular end-diastolic volume increased from 0.99±0.34 mL at 22 wk gestation to 3.69±0.36 mL at 35+6 wk gestation.The mean right ventricular end-systolic volume increased from 0.43±0.18 mL at 22 wk gestation to 1.36±0.22 mL at 35+6 wk gestation.The mean right stroke volume increased from 0.62±0.29 mL at 22 wk gestation to 2.33±0.18 mL at 35+6 wk gestation.The mean right cardiac output increased from 92.23±40.67 mL/min at 22 wk gestation to 335.83±32.75 mL/min at 35+6 wk gestation.Right ventricular end-diastolic volume,right ventricular end-systolic volume,right stroke volume,and right cardiac output all increased with gestational age and the correlations were linear(P<0.01).Right ejection fraction had no apparent correlation with gestational age(P>0.05).CONCLUSION Fetal right ventricular volume can be quantitatively measured using iSTIC technology with relative ease and high repeatability.iSTIC technology is expected to provide a new method for clinical evaluation of fetal cardiac function.

THE EFFECT OF HBsAg ANTIGENEMIA IN PREGNANT WOMEN ON FETUSES AND INFANTS

We followed up 1576 pennant women prospectively from less than 24 weeks of pregnancy,in order to investigate the effect of HBsAg antigenemia on fetuses and infants.The resultsshowed that there was no difference between HBsAg-positive and negative pregnant women in the incidence of fetal distress,Premature labor,asphyxia neonatorum, perinatal death,low birth weight,and congenital malformation,P= 0. 6035, 0.2177,0.8722,0.4673,0.9508,and 0.7892,respectively.

The Expression of Surfactant Proteins A and D in the Intestines and Pancreas of Murine Fetuses

Purpose: Surfactant proteins exist in the digestive tract and may play an important role in the host defense. However, the expression of surfactant proteins in the premature digestive system remains unclear. The aim of this study was to investigate the expression of surfactant proteins in the intes-tines and pancreas of murine fetuses. Methods: Immunostaining for SP-A and SP-D was assessed in the small intestine and pancreas of ICR murine fetuses on days 15, 16, 17 and 18 of gestation (normal duration of pregnancy: 19 - 21 days). RT-PCR was performed to detect the expression of spa and spd mRNA in the small intestine and pancreas on day 16, 17 and 18 of gestation. Results: Immunoreactivity for SP-A and SP-D in the acinar cells of pancreas and intestinal mucosal surface were positive on day 16 of gestation onward. RT-PCR revealed that the expression of spa and spd mRNA was significant in the pancreas but weak in the small intestine. Conclusions: Our data revealed that surfactant proteins are present in the fetal intestines and pancreas and that a significant expression of spa and spd mRNA is detected in the fetal pancreas. Pancreas may be a possible organ involved in the synthesis and secretion of surfactant proteins into the intestinal lumen.

Evidence supporting the relationship between maternal asthma and risk for autism spectrum disorders

During pregnancy,maternal immune activation(MIA),due to infection,chronic inflammatory disorders,or toxic exposures,can result in lasting health impacts on the developing fetus.MIA has been associated with an increased risk of neurodevelopmental disorders,such as autism spectrum disorder(ASD)in the offspring.ASD is characterized by increased repetitive and stereotyped behaviors and decreased sociability.As of 2020,1 in 36 children are diagnosed with ASD by the age of 8 years,with ASD rates continuing to increase in prevalence in USA(Tamayo et al.,2023).Post-mortem brain studies,biomarker and transcriptomic studies,and epidemiology studies have provided compelling evidence of immune dysregulation in the circulation and brain of individuals diagnosed with ASD.Currently,the etiology of ASD is largely unknown,however,genetic components and environmental factors can contribute to increased susceptibility.Maternal allergic asthma(MAA),a form of MIA,has been identified as a potential risk factor for developing neurodevelopmental disorders(Patel et al.,2020).Asthma is a chronic inflammatory condition driven by a T-helper type(TH)2 immune response.

Ultrasound blood flow characteristics changes in fetal umbilical artery thrombosis:A retrospective analysis

BACKGROUND Umbilical artery thrombosis(UAT)is extremely uncommon and leads to adverse perinatal outcomes.Hypercoagulation of blood in pregnant women is suspected to be an important risk for UAT.Ultrasound is an effective way to detect thrombosis.The mother can monitor her own fetal health using ultrasound,which enables her to take preventative action in case of emergency.AIM To investigate ultrasonic blood signal after UAT in the umbilical artery,and evaluate the relationship between hypercoagulability and UAT.METHODS We described a case of a newly formed UAT with markedly altered ultrasonic indices of umbilical artery blood flow,and retrospectively studied it with 18 UAT patients confirmed by histopathology from October 2019 and March 2023 in Xiamen Women and Children's Hospital.Patients’information was collected from medical archives,including maternal clinical data,neonatal outcomes,pathological findings and ultrasonic indices of umbilical artery blood flow,such as systolic-diastolic duration ratio(S/D),resistance index(RI),pulsatility index(PI)and peak systolic velocity(PSV).Ultrasound and coagulation indices were analyzed with matched samples t-test and Wilcoxon rank sum test using the statistical packages in R(version 4.2.1)including car(version 3.1-0)and stats(version 4.2.1),and visualized by ggplot2 package(version 3.3.6).RESULTS A patient with normal findings in second and third-trimester routine ultrasound scan developed UAT with severe changes in ultrasonic indices of umbilical artery blood flow(within 2.5th of reference ranges)in a short period of time.Statistical analysis of umbilical artery blood flow ultrasound indices for 19 patients with UAT showed that the decrease in S/D,RI,and PI and increase of PSV during the disease process was greater than that of non-UAT.All 18 patients delivered in our hospital showed characteristic manifestations of UAT on histological examination after delivery,most of which(16/18)showed umbilical cord abnormalities,with 15 umbilical cord torsion and 1 pseudoknot.Coagulation parameters were not significantly changed in UAT patients compared with normal pregnancy women.CONCLUSION Significant changes in ultrasound indicators after UAT were demonstrated.PSV can play important roles in the diagnosis of UAT.Hypercoagulability alone is not sufficient for the occurrence of UAT.

Deformation of the left and right ventricular longitudinal myocardium in fetuses with umbilical cord around neck

Background Umbilical cord around neck, a common obstetric complication, affects fetal hemodynamics. Does it influence fetal cardiac functions？ The purpose of this study was to investigate the left and right ventricular systolic and diastolic functions of fetuses with umbilical cord around neck in the third trimester by applying velocity vector imaging （VVI）. Methods Thirty-five cases of fetuses with umbilical cord around neck whose gestational ages from 35 to 40 weeks were selected, including 20 cases of umbilical artery ratio of the highest systolic velocity （S） to the lowest diastolic velocity （D） （S/D） 〈3.0 and 15 cases of umbilical artery S/D ≥3.0, while 20 cases of normal fetuses of 35–40 gestational weeks were selected as the control group. The changes in longitudinal velocity, strain, and strain rate of fetal left and right ventricle in systole and diastole in two groups, and the changes in fetal cardiac function under the situation of umbilical cord around neck were analyzed.Results Longitudinal strain and strain rate overall of fetal left and right ventricle in systole and diastole were less in fetuses with umbilical artery S/D 33.0 and umbilical cord around neck than those in fetuses with umbilical artery S/D 〈3.0 and those in control group （P 〈0.05）; there was no significant difference （P 〉0.05） in longitudinal strain and strain rate overall of fetal left and right ventricle in systole and diastole between fetuses with umbilical artery S/D 〈3.0 and those in control group.Conclusions Left and right ventricular systolic and diastolic dysfunction was detected in fetuses with umbilical cord around neck and umbilical artery S/D 33.0. VVI could sensitively respond to cardiac function changes in fetuses with umbilical cord around neck, which provides another valuable method in the evaluation of fetal cardiac function.

Mutations of connexin43 in fetuses with congenital heart malformations

Background Gap junction channels formed by connexin43 (Cx43) protein are important in cardiac morphogenesis, and Cx43 gene is thought to be associated with congenital heart malformation (CHM). This study was undertaken to detect the mutations of Cx43 in fetuses with CHM.Methods Cx43 extron DNA was amplified by PCR from 16 fetuses with a variety of CHM. The PCR products were analyzed by SSCP and DNA sequencing. Thirty children who had no CHM were selected as controls. Results Eight homozygous mutations of Cx43 were observed in a fetus with double outlet right ventricule (DORV), five of the 8 mutations were missense mutations including Arg239Trp, Ser251Thr, Ala253Pro, Pro283Leu and Thr290Asn, and the remaining 3 were silent polymorphisms including Gly252Gly, Pro256Pro and Thr275Thr. No mutations were found in other fetuses and the control group.Conclusions Mutations of Cx43 may be associated with congenital conotruncal anomalies. PCR-SSCP is an effective method for screening the mutations of Cx43.

Stem/progenitor cells in fetuses and newborns:overview of immunohistochemical markers

Microanatomy of the vast majority of human organs at birth is characterized by marked differences as compared toadult organs, regarding their architecture and the cell types detectable at histology. In preterm neonates, thesedifferences are even more evident, due to the lower level of organ maturation and to ongoing cell differentiation.One of the most remarkable finding in preterm tissues is the presence of huge amounts of stem/progenitor cells inmultiple organs, including kidney, brain, heart, adrenals, and lungs. In other organs, such as liver, the completelydifferent burden of cell types in preterm infants is mainly related to the different function of the liver duringgestation, mainly focused on hematopoiesis, a function that is taken by bone marrow after birth. Our preliminarystudies showed that the antigens expressed by stem/progenitors differ significantly from one organ to the next.Moreover, within each developing human tissue, reactivity for different stem cell markers also changes duringgestation, according with the multiple differentiation steps encountered by each progenitor during development. Abetter knowledge of stem/progenitor cells of preterms will allow neonatologists to boost preterm organmaturation, favoring the differentiation of the multiple cells types that characterize each organ in at term neonates.

Anesthetic safety evaluation of Enflurane on pregnant dogs and their fetuses

The safety and feasibility of anesthesia during pregnancy are the public concern to human and veterinary medicines,respiratory and cardiac suppression is the most serious side effect of anesthetic. In order to evaluate the effects of Enflurane on pregnant dogs their fetuses,we established the animal model of the artery catheterization,and investigated the maternal and fetal anesthetic concentrations as well as blood gases in the pregnant dogs anesthetized by inhalation of Enflurane. In this experiment,the femoral artery catheterization of 12 pregnant dogs and their 12 fetuses were performed through the anterior tibia artery by using 17 G and 18 G arterial puncture needle,4F expanded tube,3 F induction tube and the C-arm monitoring system. The results showed that the fetuses survived in uterus for 36 h (two cases),4 ~ 5 d (two cases),6 ~7 d (three cases),8 ~10 d (three cases) and 12 ~14 d (two cases) after operation,respectively. 10 fetuses that survived over 4 days in uterus after the operation were successfully delivered. The fetuses were healthy and their catheters were kept well,the other two pregnant dogs aborted their fetuses. After establishing the model successfully,Atropine sulfate in dose of 0. 04 mg/kg bw were injected into cutaneous muscle of dogs in right clinostatism. 15 minutes later after application of Atropine sulfate,the induced anesthesia was carried out by vein injection of 2. 5% Pentothal sodium (10 mg/kg/bw). The tracheal cannula was performed and the dogs were anesthetized for 10 min by Enflurane inhalation from anesthetic machine. Subsequently,the respiratory rate of experimental animals was controlled to 20-22 times/min by a mechanical ventilator,and the tidal volume was 13 ~ 15 mL/kg/bw. The maternal and fetal arterial anesthetic concentrations and blood gases including pH,PO 2,PCO 2,TCO 2,HCO 3-,SB,BEb and Sat. O 2 were measured after Enflurane inhalation anesthesia. The results showed Enflurane can cross placenta and reach fetal blood. The arterial anesthetic concentrations in fetuses were lower than that in their mothers,but the changes of anesthetic concentrations in fetuses were very similar to their mothers. The pH and BEb in the maternal and fetal blood were significantly lower (P 【 0. 01 or 0. 05),PO 2,PCO 2,and Sat. O 2 were significantly higher (P 【 0. 01 or 0. 05),compared to the prior anesthesia. SB decreased,HCO 3-and T-CO 2 increased (P 】 0. 05) in the early stage of anesthesia,but there were no significant difference after and before anesthesia. These results indicated that Enflurane crosses the placenta very quickly in dogs and is characterized by the quick induction anesthesia and elimination in the body. There were slight respiratory and metabolic acidosis in the period of anesthesia in both pregnant dogs and their fetus and the state were gradually restored to normal with the elimination of the Enflurane in blood. Taken together,Enfluence should be considerated the candidate for the induction and maintenance anesthesia for veterinary and human medicine.

Analysis of characteristic features in ultrasound diagnosis of fetal limb body wall complex during 11-13+6 weeks

BACKGROUND Limb body wall complex(LBWC)is a fatal malformation characterized by major defects in the fetal abdominal or thoracic wall,visceral herniation,significant scoliosis or spina bifida,limb deformities,craniofacial deformities,and umbilical cord abnormalities(short or absent umbilical cord).Early diagnosis of this condition is of great clinical significance for clinical intervention and pregnancy decision-making.With the rapid development of fetal ultrasound medicine,early pregnancy(11-13+6 wk)standardized prenatal ultrasound examinations have been widely promoted and applied.AIM To explore the value of prenatal ultrasound in the diagnosis of fetal LBWC syndrome during early pregnancy.METHODS The ultrasonographic data and follow-up results of 18 cases of fetal LBWC diagnosed by prenatal ultrasound during early pregnancy(11-13+6 wk)were retrospectively analyzed,and their ultrasonographic characteristics were analyzed.RESULTS Among the 18 fetuses with limb wall abnormalities,there were spinal dysplasia(18/18,100%),varying degrees of thoracoschisis and gastroschisis(18/18,100%),limb dysplasia in 6 cases(6/18,33%),craniocerebral malformations in 4 cases(4/18,22%),thickening of the transparent layer of the neck in 5 cases(5/18,28%),and umbilical cord abnormalities in 18 cases(18/18,100%),single umbilical artery in 5 cases.CONCLUSION Prenatal ultrasound in early pregnancy can detect LBWC as early as possible,and correct prenatal evaluation provides important guidance value for pregnancy decision-making and early intervention.

Dietary supplementation with 0.4%L-arginine between days 14 and 30 of gestation enhances NO and polyamine syntheses and water transport in porcine placentae

Background:Most embryonic loss in pigs occurs before d 30 of gestation.Dietary supplementation with L-arginine(Arg) during early gestation can enhance the survival and development of conceptuses(embryo/fetus and its extraembryonic membranes) in gilts.However,the underlying mechanisms remain largely unknown.Methods:Between d 14 and 30 of gestation,each gilt was fed daily 2 kg of a corn-and soybean-meal based diet(12% crude protein) supplemented with either 0.4% Arg(as Arg-HCl) or an isonitrogenous amount of L-alanine(Control).There were 10 gilts per treatment group.On d 30 of gestation,gilts were fed either Arg-HCl or L-alanine 30 min before they were hysterectomized,followed by the collection of placentae,embryos,fetal membranes,and fetal fluids.Amniotic and allantoic fluids were analyzed for nitrite and nitrate [NOx;stable oxidation products of nitric oxide(NO)],polyamines,and amino acids.Placentae were analyzed for syntheses of NO and polyamines,water and amino acid transport,concentrations of amino acid-related metabolites,and the expression of angiogenic factors and aquaporins(AQPs).Results:Compared to the control group,Arg supplementation increased(P < 0.05) the number of viable fetuses by 1.9 per litter,the number and diameter of placental blood vessels(+ 25.9% and + 17.0% respectively),embryonic survival(+ 18.5%),total placental weight(+ 36.5%),the total weight of viable fetuses(+ 33.5%),fetal crown-to-rump length(+ 4.7%),and total allantoic and amniotic fluid volumes(+ 44.6% and + 75.5% respectively).Compared to control gilts,Arg supplementation increased(P < 0.05) placental activities of GTP cyclohydrolase-1(+ 33.1%) and ornithine decarboxylase(+ 29.3%);placental syntheses of NO(+ 26.2%) and polyamines(+ 28.9%);placental concentrations of NOx(+ 22.5%),tetrahydrobiopterin(+ 21.1%),polyamines(+ 20.4%),c AMP(+ 27.7%),and c GMP(+ 24.7%);total amounts of NOx(+ 61.7% to + 96.8%),polyamines(+ 60.7% to + 88.7%),amino acids(+ 39% to + 118%),glucose(+ 60.5% to + 62.6%),and fructose(+ 41.4% to + 57.0%) in fetal fluids;and the placental transport of water(+ 33.9%),Arg(+ 78.4%),glutamine(+ 89.9%),and glycine(+ 89.6%).Furthermore,Arg supplementation increased(P < 0.05) placental m RNA levels for angiogenic factors [VEGFA120(+ 117%),VEGFR1(+ 445%),VEGFR2(+ 373%),PGF(+ 197%),and GCH1(+ 126%)] and AQPs [AQP1(+ 280%),AQP3(+ 137%),AQP5(+ 172%),AQP8(+ 165%),and AQP9(+ 127%)].Conclusion:Supplementing 0.4% Arg to a conventional diet for gilts between d 14 and d 30 of gestation enhanced placental NO and polyamine syntheses,angiogenesis,and water and amino acid transport to improve conceptus development and survival.

Could serotonin play a role in abnormal brain outcomes in fetal growth restriction?

Fetal growth restriction(FGR)describes a fetus that has not grown to its expected biological potential in utero.FGR can result from maternal,fetal,or placental complications,though it is commonly caused by placental insufficiency.The prolonged hypoxic environment the FGR fetus is exposed to has detrimental effects on the newborn,which extends to adverse long-term neurological outcomes in a significant proportion of FGR infants(Malhotra et al.,2019).Unfortunately,there are currently no therapies to reduce the adverse neurological outcomes in FGR.Neuronal injury is evident in the FGR brain,and therefore understanding which neurons are lost and how they are lost will aid in the selection of treatment options for FGR.

Understanding the timing of brain injury in fetal growth restriction:lessons from a model of spontaneous growth restriction in piglets

Fetal growth restriction(FGR)is one of the most common contributors to increased risk of mortality in the fetal/neonatal period and long-term morbidity in the infant(Malhotra et al.,2019).FGR can arise from many pathophysiological processes associated with maternal,fetal,genetic,or placental compromise;however,placental insufficiency is the most common cause of FGR.Placental insufficiency during pregnancy results in chronic fetal hypoxia where a lack of oxygen and nutrients supply to the developing fetus impacts normal development of the fetus.

Quantitative Parameters Analysis for Prenatally Echocardiographic Diagnosis of Atrioventricular Septal Defects

Background:Atrioventricular septal defects(AVSDs)are screened and diagnosed usually rely on the imaging characteristics of fetal echocardiography(FE).However,diagnosis on images is heavily depended on sonographers’experience and the quantitative data are rarely studied.Objective:This study aimed to realize the prenatal diagnosis of AVSDs by analyzing the quantitative data on FE.Methods:One hundred and thirteen cardiac quantitative data was analyzed in 370 normal and 49 AVSDs fetuses retrospectively.The top six with the highest diagnostic accuracy rate were acquired according to the area under the curve(AUC),and the diagnostic value of six variables was analyzed.Results:Six parameters obtained on the four-chamber view(4CHV),including the atrial to ventricular length ratio in end-diastole(AVLR-ED),AVLR-ED combined with the atrial to ventricular length ratio in end-systole(AVLR-ES),quantile score(Q score)of AVLR-ED,Q score of AVLR-ES,Q score of ventricle length in end-diastole(VL-ED),and AVLR-ES,were the top six with the highest diagnostic value,and the AUC was 0.99(95%CI 0.99–1.00),0.99(95%CI 0.99–1.00),0.99(95%CI 0.98–1.00),0.95(95%CI 0.91–0.99),0.93(95%CI 0.87–0.99),and 0.91(95%CI 0.83–1.00),respectively.And within the 20%false positive rate,the diagnostic sensitivity was greater than 100%,100%,100%,90%,90%,and 88%,respectively.Conclusions:Six variables could be used for prenatal diagnosis of AVSDs.Among them,AVLR-ED and Q score of AVLR-ED,obtained on the 4CHV,were more convenient to acquire and had higher diagnostic accuracy.

Maternal Vascular Dysfunction in Congenital Heart Defects

Background:Research on fetal congenital heart defect(CHD)mostly focuses on etiology and mechanisms.However,studies on maternal complications or pathophysiology are limited.Our objective was to determine whether vascular dysfunction exists in pregnant women carrying a fetus with congenital heart defects.Methods:We conducted a case-control study.27 cases of pregnant women carrying a fetus with major CHD admitted to our hospital for delivery between April 2021 and August 2022 were selected.Every case was matched with about 2 pregnant complication-free controls without fetal abnormalities.The proangiogenic and anti-angiogenic factors and pregnancy outcomes were compared.Results:The proangiogenic factors include vascular endothelial growth factor(VEGF)and placental growth factor(PlGF).The anti-angiogenic factors involve soluble fms-like tyrosine kinase 1(sFlt-1)and soluble endoglin(sEng).No differences were found in maternal plasma concentrations of PlGF,VEGF,and sFlt-1 between case-control groups when analyzed at 36 weeks≤gestational age(GA)<39 weeks and 39 weeks≤GA≤41 weeks.The concentrations of sEng in maternal plasma in the fetal CHD group were significantly higher than those in the control group:0.60(0.77)vs.0.32(0.26)ng/ml at 36 weeks≤GA<39 weeks,p=0.001 and 0.75(0.55)vs.0.28(0.27)ng/ml at 39 weeks≤GA≤41 weeks,p<0.001.Conclusion:Vascular dysfunction exists in pregnant women with fetal congenital heart defects,manifesting significantly elevated sEng concentration at delivery.

Copy number variation sequencing for diagnosis of cytomegalovirus infection based low-depth whole-genome sequencing technology in fetus:Three cases and literature review

Objective:To summarize the application value of copy number variant sequencing(CNV-seq)in the detection of fetal chromosome and cytomegalovirus load.Methods:The study analyzed the clinical basic data,relevant laboratory tests,treatment process,and outcomes of three patients with positive cytomegalovirus load detected by CNV-seq for fetal chromosomes and cytomegalovirus load,and literature review was done simutaneoubly.Results:In all three cases,the amniotic fluid cytomegalovirus load was less than 105 Copies/ml,and there were no significant neurological abnormalities observed during pregnancy or postpartum follow-up.There is no literature review on the application of CNV-seq technology in the detection of cytomegalovirus infection,only literature reports on genome analysis of CMV-DNA in confirmed patients were available.Conclusion:CNV-seq can be used to detect cytomegalovirus load,which may have a certain degree of predictive value for fetal outcome.CNV-seq can simultaneously detect fetal chromosomes and pathogenic microorganisms,which is of great significance for the prevention and control of birth defects.

参考文献著录说明及格式示例

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胎儿弯杆菌病TaqMan实时荧光定量PCR检测方法的建立

为建立胎儿弯杆菌(C.fetus)定量检测方法,本研究根据C.fetus毒力因子表面蛋白(SapA)的基因序列设计引物和一条特异的TaqMan水解探针,建立了一种敏感、特异、重复性好的快速检测C.fetus的TaqMan荧光定量PCR方法。对该方法的特异性与敏感性研究,结果显示,该方法检测C.fetus结果均为阳性,而非C.fetus均为阴性;对带有SapA基因的阳性质粒的检测敏感性为108拷贝～102拷贝/μL范围内具有良好的线性关系,可敏感地检测到模板中13个拷贝的细菌DNA,其灵敏度是常规PCR方法的100倍。该方法具有简便、快速、特异性强、敏感性高等特点。该方法为C.fetus快速检测试剂盒的研制打下了良好的基础。