Objective:To investigate genetic findings and pregnancy outcomes in fetuses with omphalocele.Methods:This retrospective study analyzed data from 502 fetuses with prenatally diagnosed omphalocele who underwent genetic testing at Guangzhou Women and Children's Medical Center and Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region between January 2014 and March 2024. Testing methods included karyotyping, chromosomal microarray analysis (CMA), methylation-specific multiplex ligation-dependent probe amplification, and whole-exome sequencing (WES). Cases were categorized as non-isolated ( n=340) or isolated ( n=162) based on ultrasound findings. Differences in genetic abnormality detection rates and pregnancy outcomes were analyzed using Mann-Whitney U test, independent samples t-test, and Chi-square test (or Fisher's exact test). Results:Among 502 fetuses, karyotyping plus CMA detected chromosomal abnormalities in 223 cases (44.4%, 223/502), including trisomy 18 (57.0%, 127/223) and trisomy 13 (23.3%, 52/223). CMA additionally identified nine pathogenic copy number variations (1.8%, 9/502) and five uniparental disomies (1.0%, 5/502), increasing the total diagnostic yield from 44.4% to 47.2%. The genetic abnormality rate was significantly lower in isolated (14.8%, 24/162) versus non-isolated omphalocele (64.7%, 220/340) ( χ2=109.34, P<0.001). WES detected variants in nine of 16 karyotype/CMA-negative cases, including five pathogenic variants involving PIK3CA and CDKN1C. Eight imprinting disorders (1.6%, 8/502) were identified, including five Beckwith-Wiedemann syndrome cases. Among 499 cases with follow-up, 401 (80.4%, 401/499) underwent pregnancy termination. Live birth rate was higher in isolated versus non-isolated groups [42.5% (69/162) vs. 8.5% (29/340), χ2=77.67, P<0.001]. Three cases were lost to follow-up. The one-year survival rate was 93.9% (92/98) in live-born infants. Conclusion:Aneuploidy (particularly trisomy 18) is the primary genetic etiology of omphalocele. CMA and WES significantly improve diagnostic yield. Isolated omphalocele has a more favorable prognosis, while non-isolated cases show significantly higher genetic abnormality rates. A stratified testing strategy is recommended: karyotyping plus CMA for isolated cases and prioritization of WES for multiple anomalies.

Objective:To investigate genetic findings and pregnancy outcomes in fetuses with omphalocele.Methods:This retrospective study analyzed data from 502 fetuses with prenatally diagnosed omphalocele who underwent genetic testing at Guangzhou Women and Children's Medical Center and Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region between January 2014 and March 2024. Testing methods included karyotyping, chromosomal microarray analysis (CMA), methylation-specific multiplex ligation-dependent probe amplification, and whole-exome sequencing (WES). Cases were categorized as non-isolated ( n=340) or isolated ( n=162) based on ultrasound findings. Differences in genetic abnormality detection rates and pregnancy outcomes were analyzed using Mann-Whitney U test, independent samples t-test, and Chi-square test (or Fisher's exact test). Results:Among 502 fetuses, karyotyping plus CMA detected chromosomal abnormalities in 223 cases (44.4%, 223/502), including trisomy 18 (57.0%, 127/223) and trisomy 13 (23.3%, 52/223). CMA additionally identified nine pathogenic copy number variations (1.8%, 9/502) and five uniparental disomies (1.0%, 5/502), increasing the total diagnostic yield from 44.4% to 47.2%. The genetic abnormality rate was significantly lower in isolated (14.8%, 24/162) versus non-isolated omphalocele (64.7%, 220/340) ( χ2=109.34, P<0.001). WES detected variants in nine of 16 karyotype/CMA-negative cases, including five pathogenic variants involving PIK3CA and CDKN1C. Eight imprinting disorders (1.6%, 8/502) were identified, including five Beckwith-Wiedemann syndrome cases. Among 499 cases with follow-up, 401 (80.4%, 401/499) underwent pregnancy termination. Live birth rate was higher in isolated versus non-isolated groups [42.5% (69/162) vs. 8.5% (29/340), χ2=77.67, P<0.001]. Three cases were lost to follow-up. The one-year survival rate was 93.9% (92/98) in live-born infants. Conclusion:Aneuploidy (particularly trisomy 18) is the primary genetic etiology of omphalocele. CMA and WES significantly improve diagnostic yield. Isolated omphalocele has a more favorable prognosis, while non-isolated cases show significantly higher genetic abnormality rates. A stratified testing strategy is recommended: karyotyping plus CMA for isolated cases and prioritization of WES for multiple anomalies.

Objective To study the value of three-dimensional pseudo-continuous arterial spin labeling(3D pCASL) for estimating collateral flow after middle cerebral artery(MCA) stenosis.Methods 3D pCASL was performed in 28 cases of negative diffusion weighted imaging(DWI) patients with MCA stenosis for estimating collateral vessels formation.The post-labeling delay(PLD) of 3D pCASL was set to 1.5 s and 2.5 s.The cerebral blood flow (CBF) of 3D pCASL with two PLD was calculated by AW workstation respectively.Nineteen normal persons were regarded as the control group.The 95% confidence interval of the ratio of left/right side of CBF of control group was set as reference value.The characteristic of the ratio of stenosed/contralateral side of CBF was analyzed.The characteristics of collateral flow was investigated with digital subtraction angiography(DSA).Results Abnormal perfusion was found in 28 patiens.Two types of abnormal perfusion were found, including typeⅠ: rCBF(PLD=1.5 s) decreased,rCBF(PLD=2.5 s) was normal (n=16);typeⅡ:rCBF(PLD=1.5 s) decreased,rCBF(PLD=2.5s) decreased (n=12).On brain DSA, abundant of collateral flow supply was found in 16 patients with typeⅠabnormal perfusion,whereas deficiency of collateral flow supply was found in 12 patients with typeⅡ.Conclusion 3D pCASL with two PLDs may provide important reference value for estimating collateral flow after middle cerebral artery stenosis.

Objective To explore the value of intravoxel incoherent motion (IVIM) imaging in evaluating diffusion and perfusion variations in subacute brain infarction.Methods MRI data of 35 patients with subacute brain infarction were analyzed retrospectively,including routine DWI,IVIM imaging and three-dimensional arterial spin labeling (3D-ASL) sequence.The ADC maps were obtained by routine DWI sequence.Pure molecular-based diffusion coefficient (D) maps,pseudo diffusion coefficient of perfusion (D*) maps and perfusion fraction (f) maps were obtained by IVIM sequence.Cerebral blood flow (CBF) maps were obtained by 3D-ASL sequence.ADC,D,D*,f,CBF values and the relative values (rADC,rD,rD*,rf,rCBF) of brain infarction lesion and contralateral mirror area were calculated.All the parameters between brain infarction lesion and contralateral mirror area were compared.The correlations were analyzed between rADC value and rD,rD*,rf values respectively,as well as between rCBF value and rD,rD*,rf values respectively.Results Quantitative analysis showed significant decreases of ADC,D,D*,f and CBF values in the brain infarction lesion compared with those in the contralateral mirror area (all P＜0.05).There were positive correlations between rADC value and rD,rf values (r=0.687,0.601,P=0.005,0.018).And the positive correlation was found between rCBF value and rf value (r=0.581,P=0.022).Conclusion IVIM imaging can concurrently provide the perfusion and diffusion informations of subacute brain infarction patients,which is helpful to further elucidate the mechanisms of subacute brain infarction.

Objective To study the relationship between injury site (right or left) or pathological type (hemorrhage or infarct) and atten-tion impairment in post stroke cognitive impairment (PSCI). Methods June, 2014 to June 2015, 49 patients with PSCI were assessed with Test of Attentional Performance (TAP) within 1 week of admission. The reaction time and the numbers of correct response were recorded. Results The reaction time of alertness (with or without alarm) was shorter in the patients with left infarction (Z=-2.32, t=-3.76, P<0.05), and the correct number of auditory was more (Z=2.42, P<0.05) than those with right infarction. The reaction time of incompatibility test and Go/Nogo test was shorter in patients with left hemorrhage than those with right hemorrhage (Z>2.32, t=-3.10, P<0.05). Conclusion A trend of lateralization was found in patients with PSCI, rather than in the pathology.