1.Research status of ultrasound parameters and blood indicators in predicting fetal growth restriction
Shuyuan LIANG ; Baoying YE ; Weiwei CHENG
Journal of Shanghai Jiaotong University(Medical Science) 2025;45(8):1059-1065
Fetal growth restriction(FGR)refers to the failure of a fetus to reach the level of growth potential determined by its genetic potential.It is a common obstetric complication,occurring in 5%to 10%of pregnancies.As a major risk factor for perinatal death and adverse neonatal outcomes,early prediction of FGR is crucial for optimizing pregnancy management.Existing evidence suggests that FGR is significantly associated with a variety of adverse pregnancy outcomes,including intrauterine hypoxia,preterm birth,neonatal asphyxia,and even neonatal mortality.It may also affect long-term neurological development and increase the risk of metabolic diseases in adulthood.Its pathogenesis is complex,which may involve placental blood flow perfusion insufficiency and genetic factors.Ultrasound parameters are the main basis for the diagnosis of FGR,among which fetal biological and hemodynamic parameters are of great value.Elevated umbilical artery blood flow resistance index,absent or reversed end-diastolic blood flow,and placental insufficiency are associated with the severity of FGR.However,approximately 10%of fetuses diagnosed by ultrasound as having FGR are later confirmed to be healthy small-for-gestational-age(SGA)infants after birth,and this false positive result may lead to unnecessary clinical interventions.Currently,there is no recognized accurate prediction model for FGR in clinical practice.Future research should focus on establishing unified diagnostic criteria and developing multi-index joint prediction tools based on artificial intelligence(AI).Early prediction and intervention for FGR are of great significance to improve perinatal outcomes.This paper reviewed the predictive value of ultrasound parameters,blood indicators,and their integration with AI for FGR,in order to provide a basis for clinical decision-making.
2.Research status of ultrasound parameters and blood indicators in predicting fetal growth restriction
Shuyuan LIANG ; Baoying YE ; Weiwei CHENG
Journal of Shanghai Jiaotong University(Medical Science) 2025;45(8):1059-1065
Fetal growth restriction(FGR)refers to the failure of a fetus to reach the level of growth potential determined by its genetic potential.It is a common obstetric complication,occurring in 5%to 10%of pregnancies.As a major risk factor for perinatal death and adverse neonatal outcomes,early prediction of FGR is crucial for optimizing pregnancy management.Existing evidence suggests that FGR is significantly associated with a variety of adverse pregnancy outcomes,including intrauterine hypoxia,preterm birth,neonatal asphyxia,and even neonatal mortality.It may also affect long-term neurological development and increase the risk of metabolic diseases in adulthood.Its pathogenesis is complex,which may involve placental blood flow perfusion insufficiency and genetic factors.Ultrasound parameters are the main basis for the diagnosis of FGR,among which fetal biological and hemodynamic parameters are of great value.Elevated umbilical artery blood flow resistance index,absent or reversed end-diastolic blood flow,and placental insufficiency are associated with the severity of FGR.However,approximately 10%of fetuses diagnosed by ultrasound as having FGR are later confirmed to be healthy small-for-gestational-age(SGA)infants after birth,and this false positive result may lead to unnecessary clinical interventions.Currently,there is no recognized accurate prediction model for FGR in clinical practice.Future research should focus on establishing unified diagnostic criteria and developing multi-index joint prediction tools based on artificial intelligence(AI).Early prediction and intervention for FGR are of great significance to improve perinatal outcomes.This paper reviewed the predictive value of ultrasound parameters,blood indicators,and their integration with AI for FGR,in order to provide a basis for clinical decision-making.
3.Effects of intergrated Chinese and western medicine on renal function and regulation of Janus activated kinase/signal transducer and activator of transcriptions pathway in patients with end-stage renal disease
Liang WU ; Bo ZHAO ; Huixin WEN ; Shuyuan JU ; Huixiao ZHENG
Chinese Journal of Integrated Traditional and Western Medicine in Intensive and Critical Care 2024;31(3):283-287
Objective To investigate the effect of Shenqi Dihuang decoction combined with recombinant erythropoietin and L-carnitine on renal function in patients with end-stage renal disease and the regulation of Janus activated kinase/signal transducer and activator of transcriptions(JAK/STAT)pathway.Methods A total of 144 patients with end-stage renal disease who were treated in the Second Affiliated Hospital of Xingtai Medical College from October 2019 to October 2021 were selected as the study objects.Patients were divided into Shenqi Dihuang decoction treatment group and conventional treatment group according to random number table method,72 cases in each group.Maintenance hemodialysis was performed in both groups.The conventional treatment group received recombinant erythropoietin and L-carnitine,while the Shenqi Dihuang decoction treatment group had Shenqi Dihuang decoction(prescription composition:30 g each of raw Astragalus,Parasitic loranthus,Eclipta,Polyporus,Poria bark,Raw coix seed,Salvia miltiorrhiza,and Pyrrosia,15 g each of Codonopsis pilosula,Dogwood,Herba lycopi,and Common yam rhizome,10 g each of raw Rehmannia glutinosa,Litchi core,Silkworm sand and Curcuma zedoary,6 g Cassia seed),once a day for 3 months.The clinical efficacy,renal function,microinflammatory status and serum JAK/STAT pathway related protein levels were observed after treatment in two groups of patients with different treatment modalities,and the occurrence of adverse reactions was recorded.Results The total effective rate of Shenqi Dihuang decoction was higher than that of conventional treatment group[90.28%(64/72)vs.77.78%(55/72),P<0.05].After treatment,the residual renal function(RRF),24-hour urine protein,blood urea nitrogen(BUN),blood creatinine(SCr)and inflammatory factors[hypersensitive C-reactive protein(hs-CRP),interleukin-6(IL-6)and tumor necrosis factor-α(TNF-α)]were lower than before treatment,the post-treatment RRF of the Shenqi Dihuang decoction treatment group was higher than that of the conventional treatment group(mL/min:4.82±1.18 vs.3.96±1.05),while 24 hours urine protein(mg:62.26±12.16 vs.97.71±16.28),BUN(mmol/L:16.25±3.64 vs.20.65±4.13),SCr(μmol/L:242.25±25.62 vs.280.62±26.63),hs-CRP(mg/L:5.86±1.15 vs.7.78±1.32),IL-6(ng/L:3.26±0.64 vs.4.62±1.13)and TNF-α(μg/L:29.23±5.64 vs.32.66±6.13)were significantly lower than those in the conventional treatment group(all P<0.05).After treatment,JAK and STAT in Shenqi Dihuang decoction group were increased compared with before treatment,phosphorylated JAK(p-JAK)and phosphorylated STAT(p-STAT)were decreased compared with before treatment(both P<0.05),while the serum JAK/STAT pathway related protein levels in conventional treatment group were not significantly changed(all P>0.05).Therefore,JAK and STAT in the Shenqi Dihuang decoction treatment group after treatment were significantly higher than those in the conventional treatment group[JAK(μg/L):1.46±0.28 vs.1.26±0.26,STAT(μg/L):1.37±0.25 vs.0.99±0.24,both P<0.05],p-JAK and p-STAT were significantly lower than those in the conventional treatment group[p-JAK(μg/L):0.45±0.08 vs.0.65±0.13,p-STAT(μg/L):0.66±0.13 vs.0.82±0.28,both P<0.05].There was no statistically significant difference in the incidence of adverse reactions between the two groups[13.88%(10/72)vs.9.72%(7/72),P>0.05].Conclusion Taking Shenqi Dihuang decoction based on recombinant erythropoietin and L-carnitine treatment can effectively inhibit the JAK/STAT signaling pathway,and improve renal function and micro-inflammatory status in patients with end-stage renal disease,thereby improving the therapeutic effect.
4.Prenatal ultrasonic diagnosis and genetic analysis of fetal congenital heart diseases
Bocheng LIANG ; Dandan LUO ; Caiqun LUO ; Ying TAN ; Shuyuan OUYANG ; Yimei LIAO ; Ying YUAN ; Huaxuan WEN ; Shengli LI
Chinese Journal of Medical Imaging Technology 2024;40(2):251-255
Objective To explore the genetic characteristics of fetuses with congenital heart diseases(CHD)diagnosed by prenatal ultrasound.Methods Data of 613 singletons with prenatal ultrasonic diagnosed CHD were retrospectively analyzed.The cardiac structural abnormalities were classified into 8 types.Whole-exome sequencing(WES)was performed for 40 fetuses since chromosomal karyotyping analysis and/or chromosomal microarray analysis(CMA)showed benign copy number variations(CNV)or variants of uncertain significance(VUS).Results Among 613 fetuses,479 fetuses underwent both chromosomal karyotyping analysis and CMA,genomic abnormalities were detected in 60 fetuses(60/479,12.53%).Among 134 fetuses underwent only CMA,genomic abnormalities were found in 4 fetuses(4/134,2.99%).According to results of chromosomal karyotyping analysis and/or CMA,abnormalities were noticed in 40 fetuses(40/568,7.04%)among 568 fetuses with isolated CHD,while in 15 fetuses(15/45,33.33%)among 45 fetuses with non-isolated CHD,respectively.Abnormality detection rate of chromosomal karyotyping analysis and/or CMA in fetuses with complex CHD(10/41,24.39%)was higher than that in fetuses with non-complex CHD(54/572,9.44%).Among complex CHD fetuses,abnormality detection rate was the highest in fetuses with conotruncal defect(CTD)combined with malformation of venous system(4/13,30.77%),while among fetuses with non-complex CHD,situs inversus viscerum had the highest detection rate(1/4,25.00%).Among 40 fetuses chromosomal karyotyping analysis and/or CMA showed benign CNV or VUS,WES indicated pathogenic CNV/likely pathogenic CNV(P/LP)in 3 fetuses,VUS in 3 fetuses and benign CNV in 34 fetuses.Conclusion Fetuses with CHD,especially extracardiac malformations had possibilities of genomic abnormalities.Fetuses with CTD combined with malformation of venous system had higher possibilities of genomic abnormalities.Compared with CMA alone,chromosomal karyotyping analysis combined with CMA was helpful for detecting genomic abnormalities.
5.Analysis of influencing factors and pathways of postoperative self-efficacy in patients with fragility fracture
Li LI ; Yawen SHEN ; Delong LI ; Fangfang CHENG ; Xifeng YU ; Linlin PAN ; Shuyuan ZHUANG ; Sihong DONG ; Jiao WU ; Yan LIANG ; Yuantong ZANG
Chinese Journal of Nursing 2024;59(24):3003-3008
Objective To investigate the relationship between symptom burden and rehabilitation self-efficacy of patients after fragility fracture surgery,and to study the chain mediating role of social support and perceived stress in the influence of symptom burden on rehabilitation self-efficacy of such patients.Methods Approved by the Ethics Committee of the hospital,168 patients who met the admission criteria after fragility fracture surgery admitted to the Second Affiliated Hospital of Inner Mongolia Medical University from July 2020 to December 2023 were included in the study by convenient sampling method,and general data of the patients were collected.M.D.Anderson Symptom Inventor(MDASI),Self-Efficacy for Managing Chronic Disease 6-Item Scale(SECD6),Social Support Rating Scale(SSRS)and Perceived Stress Scale(CPSS)were used to investigate the above patients,and multiple sets of quantitative data were analyzed for attribution association profile and mediation effect.Results After removing invalid questionnaires,a total of 160 valid questionnaires were collected,with an effective response rate of 95.24%.Correlation analysis showed that symptom burden was negatively correlated with rehabilitation self-efficacy(r=-0.405,P<0.05);social support was significantly positively correlated with rehabilitation self-efficacy(r=0.558,P<0.05);perceived stress was negatively correlated with rehabilitation self-efficacy(r=-0.330,P<0.05);symptom burden was negatively correlated with social support(r=-0.191,P<0.05);social support was negatively correlated with perceived stress(r=-0.280,P<0.05);symptom burden was positively correlated with perceived stress(r=0.376,P<0.05).Mediating effect test showed that the symptom burden of patients after fragility fracture surgery had a direct impact on rehabilitation self-efficacy(β=-0.402,t=0.148,P<0.05),and had an impact on rehabilitation self-efficacy through 3 mediating pathways:first,the mediating effect of social support alone(β=-0.098,95%CI:-0.112~-0.074);the second was the mediating effect of stress perception alone(β=-0.081,95%CI:-0.104~-0.061);the third is the chain mediating effect of social support and stress perception(β=-0.056,95%CI:-0.074~-0.030).Conclusion The burden of symptoms after fragility fracture surgery has a direct effect on rehabilitation self-efficacy.Symptom burden influences postoperative self-efficacy of patients with fragility fractures through the chain mediation of social support and perceived stress.Early and accurate assessment of symptom burden,stress perception and social support should be conducted.According to needs,the multidisciplinary medical team provides individualized and diversified health education support to actively help and guide the self-regulation of patients'stress perception,so as to reduce patients'symptom burden and promote the improvement of their self-efficacy in the process of rehabilitation.
6.Conventional and Contrast-enhanced Ultrasound Manifestations in Patient with Renal Epithelioid Angiomyolipoma
Ping ZHAO ; Shuyuan LIANG ; Jianing ZHU ; Jingbo LI ; Luda SONG ; Lianhua ZHU ; Xiang FEI ; Qiuyang LI ; Yukun LUO
Chinese Journal of Medical Imaging 2024;32(12):1277-1281
Purpose To investigate the features of conventional and contrast-enhanced ultrasound (CEUS) imaging in renal epithelioid angiomyolipoma (EAML). Materials and Methods We retrospectively analyzed the conventional ultrasound and CEUS images of the 30 patients with renal EAML who were confirmed by pathology in the General Hospital of the PLA from November 2010 to October 2022. The location,size,classfication,echo,boundary,shape,growth pattern and whether color Doppler ultrasound detects blood flow signals were observed by conventional ultrasound. CEUS was used to analyze the wash-in pattern,enhancement direction,peak enhancement intensity,the uniformity after enhancement,wash-out pattern and pseudocapsule sign,respectively. Results A total of 30 patients (n=30 lesions) were enrolled. The maximal diameter of the lesions varied from 1.4 to 12.6 cm. 17 cases occurred in the right kidney and 13 cases in the left kidney. On grayscale ultrasound,28 cases showed solid type,2 were cystic solid;18 cases demonstrated hypoechoic,10 were hyperechoic;the solid component in the cystic solid lesion was isoechoic in 1 case and hyperechoic in 1 case;24 cases displayed well-defined and 19 cases appeared regular shape;22 cases were presented exophytic growth. Color Doppler ultrasound detected blood flow in 24 cases. Of all 30 patients with EAML,CEUS was performed in 13 cases,6 lesions with simultaneous wash-in;10 cases with centripetal enhancement;9 cases with hyper-enhancement;10 cases with homogeneous enhancement;5 lesions with simultaneous wash-out;9 cases with pseudocapsule sign. Conclusion The ultrasonographic appearance of EAML has a tendency to be hypoechoic with exophytic growth and clear boundary on conventional ultrasound images,and centripetal enhancement,homogeneous hyperenhancement and presence of pseudocapsule on CEUS images. All these findings are contributed to the diagnosis of EAML.
7.Conventional and Contrast-enhanced Ultrasound Manifestations in Patient with Renal Epithelioid Angiomyolipoma
Ping ZHAO ; Shuyuan LIANG ; Jianing ZHU ; Jingbo LI ; Luda SONG ; Lianhua ZHU ; Xiang FEI ; Qiuyang LI ; Yukun LUO
Chinese Journal of Medical Imaging 2024;32(12):1277-1281
Purpose To investigate the features of conventional and contrast-enhanced ultrasound (CEUS) imaging in renal epithelioid angiomyolipoma (EAML). Materials and Methods We retrospectively analyzed the conventional ultrasound and CEUS images of the 30 patients with renal EAML who were confirmed by pathology in the General Hospital of the PLA from November 2010 to October 2022. The location,size,classfication,echo,boundary,shape,growth pattern and whether color Doppler ultrasound detects blood flow signals were observed by conventional ultrasound. CEUS was used to analyze the wash-in pattern,enhancement direction,peak enhancement intensity,the uniformity after enhancement,wash-out pattern and pseudocapsule sign,respectively. Results A total of 30 patients (n=30 lesions) were enrolled. The maximal diameter of the lesions varied from 1.4 to 12.6 cm. 17 cases occurred in the right kidney and 13 cases in the left kidney. On grayscale ultrasound,28 cases showed solid type,2 were cystic solid;18 cases demonstrated hypoechoic,10 were hyperechoic;the solid component in the cystic solid lesion was isoechoic in 1 case and hyperechoic in 1 case;24 cases displayed well-defined and 19 cases appeared regular shape;22 cases were presented exophytic growth. Color Doppler ultrasound detected blood flow in 24 cases. Of all 30 patients with EAML,CEUS was performed in 13 cases,6 lesions with simultaneous wash-in;10 cases with centripetal enhancement;9 cases with hyper-enhancement;10 cases with homogeneous enhancement;5 lesions with simultaneous wash-out;9 cases with pseudocapsule sign. Conclusion The ultrasonographic appearance of EAML has a tendency to be hypoechoic with exophytic growth and clear boundary on conventional ultrasound images,and centripetal enhancement,homogeneous hyperenhancement and presence of pseudocapsule on CEUS images. All these findings are contributed to the diagnosis of EAML.
8.Analysis of influencing factors and pathways of postoperative self-efficacy in patients with fragility fracture
Li LI ; Yawen SHEN ; Delong LI ; Fangfang CHENG ; Xifeng YU ; Linlin PAN ; Shuyuan ZHUANG ; Sihong DONG ; Jiao WU ; Yan LIANG ; Yuantong ZANG
Chinese Journal of Nursing 2024;59(24):3003-3008
Objective To investigate the relationship between symptom burden and rehabilitation self-efficacy of patients after fragility fracture surgery,and to study the chain mediating role of social support and perceived stress in the influence of symptom burden on rehabilitation self-efficacy of such patients.Methods Approved by the Ethics Committee of the hospital,168 patients who met the admission criteria after fragility fracture surgery admitted to the Second Affiliated Hospital of Inner Mongolia Medical University from July 2020 to December 2023 were included in the study by convenient sampling method,and general data of the patients were collected.M.D.Anderson Symptom Inventor(MDASI),Self-Efficacy for Managing Chronic Disease 6-Item Scale(SECD6),Social Support Rating Scale(SSRS)and Perceived Stress Scale(CPSS)were used to investigate the above patients,and multiple sets of quantitative data were analyzed for attribution association profile and mediation effect.Results After removing invalid questionnaires,a total of 160 valid questionnaires were collected,with an effective response rate of 95.24%.Correlation analysis showed that symptom burden was negatively correlated with rehabilitation self-efficacy(r=-0.405,P<0.05);social support was significantly positively correlated with rehabilitation self-efficacy(r=0.558,P<0.05);perceived stress was negatively correlated with rehabilitation self-efficacy(r=-0.330,P<0.05);symptom burden was negatively correlated with social support(r=-0.191,P<0.05);social support was negatively correlated with perceived stress(r=-0.280,P<0.05);symptom burden was positively correlated with perceived stress(r=0.376,P<0.05).Mediating effect test showed that the symptom burden of patients after fragility fracture surgery had a direct impact on rehabilitation self-efficacy(β=-0.402,t=0.148,P<0.05),and had an impact on rehabilitation self-efficacy through 3 mediating pathways:first,the mediating effect of social support alone(β=-0.098,95%CI:-0.112~-0.074);the second was the mediating effect of stress perception alone(β=-0.081,95%CI:-0.104~-0.061);the third is the chain mediating effect of social support and stress perception(β=-0.056,95%CI:-0.074~-0.030).Conclusion The burden of symptoms after fragility fracture surgery has a direct effect on rehabilitation self-efficacy.Symptom burden influences postoperative self-efficacy of patients with fragility fractures through the chain mediation of social support and perceived stress.Early and accurate assessment of symptom burden,stress perception and social support should be conducted.According to needs,the multidisciplinary medical team provides individualized and diversified health education support to actively help and guide the self-regulation of patients'stress perception,so as to reduce patients'symptom burden and promote the improvement of their self-efficacy in the process of rehabilitation.
9.Cost-effectiveness analysis of different screening modes for thalassemia in Hunan Province
Hui XI ; Qin LIU ; Donghua XIE ; Xu ZHOU ; Wanglan TANG ; Deguo TANG ; Chunyan ZENG ; Qiong WANG ; Xinghui NIE ; Jinping PENG ; Xiaoya GAO ; Hongliang WU ; Haoqing ZHANG ; Li QIU ; Zonghui FENG ; Shuyuan WANG ; Shuxiang ZHOU ; Jun HE ; Shihao ZHOU ; Faqun ZHOU ; Junqing ZHENG ; Hua WANG ; Junqun FANG ; Changbiao LIANG
Chinese Journal of Perinatal Medicine 2023;26(6):468-475
Objective:To analyze the costs and effectiveness of five common screening modes and genetic screening for thalassemia in China in order to find the optimal way and provide evidence for the implementation of thalassemia prevention and control projects in Hunan Province.Methods:From June 2020 to April 2021, 12 971 couples from 14 cities and autonomous prefectures in Hunan Province were selected as the study population. The diagnosis of thalassemia was based on the results of genetic testing. Results of routine blood test and hemoglobin electrophoresis were collected and analyzed. The efficacy of five screening modes, at the cut-off value of <80 fl or 82 fl for the mean corpuscular volume (MCV), was analyzed by positive predictive value, negative predictive value, Jorden index and cost-effectiveness ratio. Sensitivity analysis was used to assess the feasibility of genetic screening at different costs after fixing the costs of routine blood and hemoglobin electrophoresis. The five thalassemia screening models are as follows: Mode 1: The woman had a blood routine test first. If the result was positive, the spouse required a blood routine test. If both results were positive, a thalassemia gene test should be offered to the couple. Mode 2: Both husband and wife were screened by blood routine and hemoglobin electrophoresis. If one or both of them were positive, both would be tested for thalassemia gene. Mode 3: The couple received blood routine tests initially. If either was positive, both should receive hemoglobin electrophoresis testing. If either was positive, both parties will conduct thalassemia gene testing. Mode 4: The woman was screened by blood routine and hemoglobin electrophoresis. If any one of them was positive, the woman would be tested for thalassemia gene. If the gene test result was positive, the spouse should receive thalassemia gene. Mode 5: Both spouses conducted a blood routine test. If either was positive, both would conduct hemoglobin electrophoresis test. If both were positive, both spouses should receive thalassemia gene testing. Gene testing mode: The woman would be tested for thalassemia, and her spouse would have thalassemia test too if her result was positive.Results:When using MCV<80 fl as the cut-off for diagnosing thalassemia, the Youden indices of the five prenatal screening modes in Hunan Province were 0.551, 0.639, 0.898, 0.555 and 0.356, while when using MCV<82 fl as the cut-off, the Youden indices were 0.549, 0.629, 0.851, 0.548 and 0.356. When the MCV cut-off value was <80 fl, the missed diagnosis rates of the five screening modes were 44.44%, 0.00, 0.00, 18.52% and 62.96%, and the cost-effectiveness ratios were 21 709, 250 939, 76 870, 138 463 and 92 860 yuan (RMB)/couple, respectively. When the price of genetic testing was lower than 55 yuan (RMB), the cost-effectiveness ratio of genetic screening was lower than that of Mode 3.Conclusions:MCV<80 fl can be considered as the positive criteria in blood routine screening for thalassemia in Hunan Province, and the cost-effectiveness ratio of Mode 3 (the couple received blood routine tests initially. If either was positive, both should receive hemoglobin electrophoresis testing. If either was positive, both parties will conduct thalassemia gene testing) is the best. Genetic screening has certain advantages with the decreasing price.
10.Prenatal imaging classification and potential diseases of fetal abnormal sylvian fissure
Yimei LIAO ; Bing WANG ; Huaxuan WEN ; Shuyuan OUYANG ; Dongming HAN ; Caiqun LUO ; Yang LIU ; Bingguang LIU ; Qing ZENG ; Yue QIN ; Dandan LUO ; Meiling LIANG ; Xin WEN ; Zhixuan CHEN ; Haishan XIANG ; Ying YUAN ; Guanxun CHENG ; Shengli LI
Chinese Journal of Ultrasonography 2023;32(3):211-219
Objective:To assess the ultrasonographic features and potential diseases of fetal abnormal sylvian fissure(SF), and to explore the value of whole-genome sequencing (WGS) in prenatal detection.Methods:A total of 28 fetuses with a sonographic diagnosis of abnormal SF in Shenzhen Maternal and Child Health Hospital Affiliated to Southern Medical University between October 2018 and October 2020 were prospectively included. The fetal brain was evaluated by neuroultrasound and intrauterine MRI in detail. Amniotic fluid/cord blood obtained by amniocentesis or tissue samples from umbilical cord after birth were collected for WGS. Pregnancy outcomes and postnatal MRI were recorded, and neurodevelopment of live-born infants was followed up for more than 24 months after delivery.Results:During the study period, 28 fetuses with abnormal SF were identified, with a gestational age of 21.3-30.0 (24.8±2.0) weeks. Abnormal SF presented in MCD ( n=15, 53.6%), chromosomal anomalies ( n=3, 10.7%) or single-gene genetic syndromes ( n=3, 10.7%) with the affected fetuses showing developmental delay, hydrocephalus or leukomalacia ( n=4, 14.2%), corpus callosal agenesis with large interhemispheric cysts ( n=1, 3.6%), benign subarachnoid space enlargement with arachnoid cysts ( n=1, 3.6%), and multiple malformations ( n=1, 3.6%). Among the 15 cases with MCD, the most common pathology was lissencephaly/pachygyria, followed by schizencephaly, severe microcephaly, hemimegalencephaly with paraventricular heterotopia, and polymicrogyria. Abnormal SF presented bilaterally in 23 fetuses and unilaterally in 5. All cases were categorized into six types depending on SF morphology in the transthalamic section: no plateau-like or a small insula, linear type, irregular corrugated SF, Z-shaped, and cyst occupying type. In addition to abnormal SF, associated anomalies or mild variations were identified in all fetuses. There were 17 cases underwent intrauterine MRI, and 13 cases underwent postnatal MRI examination.And 25 pregnancies were terminated; 3 were born alive, and 2 had typical syndromic changes with poor neurodevelopmental prognosis. A related pathogenic genetic variant was detected in 57.1% (16/28) fetus, and the incidence of single nucleotide variants(SNVs) was 42.9% (12/28), among which de novo SNVs accounted for 91.7% (11/12). Conclusions:Fetal abnormal SF could be classified based on the ultrasonographic features of transthalamic section. Fetal abnormal SF may indicate MCD, some chromosomal abnormalities or single-gene genetic syndromes that may lead to poor neurodevelopmental outcomes, and may be affected by extra-cortical factors. It is suggested to carry out targeted prenatal genetic diagnosis for fetuses with abnormal SF.

Result Analysis
Print
Save
E-mail