Application of genomic copy number variation detection technology in prenatal diagnosis of 7617 pregnant women with serological screening abnormalities during the second trimester of pregnancy / 中华医学遗传学杂志

OBJECTIVE@#To analyze the genomic variation characteristics of fetal with abnormal serological screening, and to further explore the value of copy number variation (CNV) detection technology in prenatal diagnosis of fetal with abnormal serological screening.@*METHODS@#7617 singleton pregnant women who underwent amniocentesis for prenatal diagnosis solely due to abnormal Down's serological screening were selected. According to the results of serological screening, the patients were divided into high risk group, borderline risk group and single abnormal multiple of median (MOM) group. CMA and CNV-Seq were used to detect the copy number variation of amniotic fluid cell genomic DNA and combined with amniotic fluid cell karyotype analysis for prenatal diagnosis. Outpatient revisit combined with telephone inquiry was used for postnatal follow-up.@*RESULTS@#Among 7617 amniotic fluid samples, aneuploidy was detected in 138cases (1.81%) by CMA and CNV-Seq, 9 cases of aneuploid chimerism were detected by amniotic fluid cell karyotype analysis, and 203 cases of fetus carrying pathogenic and likely pathogenic CNV (P/LP CNV) were detected, the variant of uncertain significance (VUS) was detected in 437 cases (5.7%), the overall abnormal detection rate was 10.33%. The detection rate of aneuploidy by CMA and CNV-Seq in three group were 123 cases (2.9%), 13 cases (1.3%) and 2 cases (0.4%), respectively,and showing no significant difference (χ 2=7.469, P=0.024). The detection rate of pathogenic and likely pathogenic CNV in three group were 163cases (2.6%); 24 cases (2.6%) and 16 cases (3.3%), respectively, and showing no significant difference (χ 2=0.764, P=0.682). The CMA reported 2.9% (108/3729)P/LP CNV, and CNV-seq reported 2.4% (95/3888)P/LP CNV, both tests showed similar detective capabilities (χ 2=1.504, P=0.22).The most popular P/LP CNV in this cohort were Xp22.31 microdeletion, 16p13.11 microduplication /microdeletion, 22q11.21 microduplication /microdeletion. In fetuses with P/LP CNV CNV, 59 fetuses were terminated pregnancy, and 32 of 112 fetuses born had abnormal clinical manifestations. Non-medically necessary termination of pregnancy occurred in 11 fetuses carrying VUS CNV, 322 fetuses carrying VUS CNV were born, 4 of them presented abnormal clinical manifestations.@*CONCLUSION@#Compared with the traditional chromosome karyotype, CMA and CNV-Seq can improve the detection rate of pathogenic and likely pathogenic CNV. CMA and CNV-seq can be used for first tier diagnosis of pregnant women in the general population with abnormal Down's serological screening.

Predictive value of CT imaging features in preoperative high-risk group of childhood hepatoblastoma / 中华放射学杂志

Objective:To investigate the value of CT findings of childhood hepatoblastoma (HB) in predicting preoperative tumor risk stratification.Methods:Totally 46 children with HB confirmed by surgery and pathology were retrospectively enrolled from October 2010 to October 2019 in Shenzhen Children′s Hospital and Xuzhou Children′s Hospital. The preoperative abdominal plain CT and three-phasic contrast-enhanced CT with complete clinical files were evaluated. According to the clinical risk stratification established by the multidisciplinary diagnosis and treatment consensus for children with HB, the HB children were divided into high-risk group and non-high-risk group with 16 and 30 cases respectively. The maximum diameter of tumor, relative tumor volume index, cystic change or necrosis, bleeding, calcification, fibrous septations, tumor rupture, liver capsule retraction and subcapsular effusion were evaluated. Enhancement percentage and enhancement index on arterial, venous and delayed phases of each tumor were measured and calculated. Pearson′s χ 2 test or Fisher′s exact test were used to compare the differences in gender and lesion morphological characteristics between the high-risk group and the non-high-risk group. Two independent sample t test or Mann-Whitney U test were used to compare the differences in age, gestational age, birth weight, α-fetoprotein, platelets, maximum diameter of tumor, relative tumor volume index and CT parameters of the lesion between the two groups. Statistically significant features were included in the binary logistic regression analysis and independent predictors related to high-risk group were obtained. The ROC curve was used to determine the critical value of the high-risk group. Results:There were statistically significant differences in age, maximum diameter of tumor, relative tumor volume index and tumor rupture between the high-risk group and the non-high-risk group (all P<0.05). The logistic regression analysis showed that the maximum diameter of tumor (OR=1.906, P=0.004) and tumor rupture (OR=16.558, P=0.005) were risk factors of the high-risk group. Based on ROC curve, the optimum cut-off point of maximum diameter of tumor to predict high-risk group was 10.5 cm. Tumor rupture, maximum diameter of tumor and maximum diameter of tumor combined with tumor rupture for predicting the incidence of high-risk group resulted in the area under the curve of 0.744, 0.807 and 0.879, respectively. The sensitivity and specificity of maximum diameter of tumor combined with tumor rupture were 75.0% and 96.7%, respectively. Conclusion:The age of onset in high-risk group is relatively older. The maximum diameter of tumor greater than 10.5 cm accompanied by tumor rupture can be regarded as a high-risk sign.

MRIfeaturesandcommoncausesofgrowthhormonedeficiencyin childrenwithshortstaturecausedbypituitarylesions / 实用放射学杂志

Objective ToexploretheMRIfeaturesofgrowthhormonedeficiency(GHD)inchildrenwithshortstaturecausedby pituitarylesions,inordertoimprovethediagnosticlevelofthesediseases.Methods MRIandclinicaldataof624patientsofGHD withshortstaturecausedbypituitarylesionswereretrospectivelyanalyzed.Results Inshortstaturecausedbypituitarylesions,there were383caseswithanteriorpituitarydysplasia(61.4%);49casesofpituitarystalkinterruptionsyndrome(PSIS)(7.9%);16cases ofpituitaryhyperplasiaduetoprimaryhypothyroidism (2.6%);41casesofRathkecleftcyst(6.6%);74casesofemptysellasyndrome(11.9%);17 casesofpituitaryinvasionbyLangerhanscellhistiocytosis(2.7%);2casesofsellarregionalarachnoidcyst(0.3%);and42casesof craniopharyngioma(6.7%).MRIshowedtheheightofanteriorpituitarywaslessthannormal,andthelocation,sizeandsignalsof posteriorpituitaryandpituitarystalkwerenormalinanteriorpituitarydysplasia.Noorthinpituitarystalk,anteriorpituitaryhypoplasiawith ectopicposteriorpituitarywereseeninPSIS.Allofthepituitaryhyperplasiawerecausedbyhypothyroidism,inwhich MRIshowed anteriorpituitaryenlargement,upwardapophysis,obvioushomogeneousenhancement,nopituitarystalkinterruptionandabnormal signal,andthepituitaryglandreducinginsizeafterreplacementtherapy.Stalkhypophysialwasthickeningtogetherwithadisappearanceof hyperintenseoftheposteriorlobeofpituitaryglandonT1,andthesizeandsignalsofanteriorpituitarywerenormalinpituitarybeing invadedbyLangerhanscellhistiocytosis.AtrophyofanteriorpituitarywasseeninRathkecleftcyst,emptysellasyndrome,sellarregionalarachnoid cystandcraniopharyngioma.Conclusion MRIcanclearlyshowtheanatomyofpituitaryandsellarregion,whichcanprovideamorphological referencefortheearlydiagnosisanddifferentialdiagnosisofGHDinchildrenwithshortstaturecausedbypituitarylesions,andisof clinicallyimportantfortreatmentandprognosis.

Application of “double low”CTU method in children with urinary system malformation / 实用放射学杂志

Objective To probe the application value of “double low”CTU method in diagnosis of urinary system malformation in children.Methods Patients with urinary system malformation were screened by ultrasound,and renal calculi,tumor and tumor-like lesions were excluded.Double phase contrast media injection (iodixanol contrast media 270 mg I/mL)was used in one phase scan-ning,and the cortex-secretory phase images were obtained.The images were reviewed and evaluated independently by two readers. Results The coincidence rate of diagnosis was 100% with well images quality.Conclusion CTU is an important tool for the diagno-sis of urinary tract malformations in children.The “double low”method with lower radiation dose and contrast media quantity may ensure the quality of diagnosis.

Predictive value of HLA-DRB1 gene for the treatment of unexplained recurrent spontaneous abortion with paternal lymphocyte alloimmunization therapy in Henan Hans / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the value of HLA-DRB1 gene in predicting the outcome of unexplained recurrent spontaneous abortion (URSA) treated with paternal lymphocyte alloimmunization therapy (PLAT) in Henan Hans.</p><p><b>METHODS</b>Three hundred URSA patients were recruited. Following PLAT treatment, they were divided into two groups according to the outcome of pregnancy. Polymerase chain reaction sequence specific primer (PCR-SSP) were conducted to analyze the HLA-DRB1 gene.</p><p><b>RESULTS</b>For those who have received PLAT treatment, the frequency of HLA-DRB1*11 was significantly lower in successfully treated cases than those with abortion (0.052 vs. 0.110, P < 0.05, OR=0448), whilst the frequency of HLA-DRB1*15 was significantly greater in the former (0.207 vs. 0.100, P < 0.05, OR=2.352).</p><p><b>CONCLUSION</b>For patients who have received PLAT treatment, those with HLA-DRB1*15 are more likely to conceive that those with HLA-DRB1*11.</p>

Value of Diffusion-weighted Imaging in Distinguishing Prostate Cancer from Benign Prostatic Hyperplasia:a Meta-analysis / 中国医学影像学杂志

Purpose To explore the ADC value in distinguishing prostate cancer (PCa) and benign prostatic hyperplasia (BPH) by reviewing related articles. Materials and Methods The studies about the diffusion-weighted images in distinguishing the prostate cancer and benign prostatic hyperplasia were enrolled from the websites of Elsevier Science, PubMed, Springer-Link, Wiley Online Library, Medline and CNKI from 2000 to 2011, with DWI, prostate, cancer, carcinoma and hyperplasia as search terms. According to the uniform inclusion and exclusion criteria, the correct studies were chosen and the parameters including the mean values and standard deviations of ADC value were extracted. Meta-analysis was done by using Stata 11 software. Results A total of 7 studies met the inclusion criteria, including 4 English articles and 3 Chinese articles. The fixed-effect model was used due to no heterogeneity. The standardized mean difference (SMD) was-1.357 and 95%confidence interval (95%CI) was (-1.604,-1.109, P=0.000). Conclusion DWI can be helpful in distinguishing the prostate cancer from the benign prostatic hyperplasia, and the ADC value of PCa is lower than that of BPH.