Whole exome sequencing analysis and prenatal diagnosis in children with neurodevelopmental disorders / 中华预防医学杂志

To explore the application value of whole exome sequencing (WES) in the diagnosis of prenatal and postnatal neurodevelopmental disorders (NDDs). A total of 70 patients diagnosed with NDDs who underwent WES at the Medical Genetics Center of the Maternal and Child Health Hospital of Hubei Province between June 2020 and July 2021 were retrospectively analyzed. Genomic DNA was extracted from peripheral blood samples and amniotic fluid. WES-based copy number variant (CNV) analysis was integrated into the routine WES data analysis pipeline. The results showed that a molecular diagnosis rate could be made in 21/70 (30%) cases. Of 21 positive cases, 14 (23%) cases were detected by single-nucleotide variant/small insertion/deletion (SNV/Indel) analysis, of which 12 variants were novel, 6 (9.8%) cases were detected by WES-based CNV analysis, and 1 (1.6%) case was detected by a combination of both. The diagnostic yield of WES combined with CNV analysis was higher than that of SNV/Indel analysis alone (30%, 21/70 vs. 20%, 14/70). Of the 28 prenatally diagnosed cases, 6 cases were found to have inherited parental variation for NDDs, 10 cases were found not to have the same pathogenic variation as the proband, and the remaining 12 cases were found to have no pathogenic or likely pathogenic variation that could explain the NDDs phenotype. Clinical follow-up showed that 5 families opted for abortion and the remaining had no current abnormalities. In conclusion, WES may be an effective method to clarify the genetic etiology and prenatal diagnosis of NDDs, which is helpful in assessing the prognosis to aid clinical management and reproductive guidance.

Genetic Mutation Characteristics of Glucose-6-Phosphate Dehydrogenase Deficiency Patients in Wuhan / 中国实验血液学杂志

OBJECTIVE@#To explore the genotype mutation characteristics of patients with glucose-6-phosphate dehydrogenase(G6PD) deficiency in Wuhan.@*METHODS@#A total of 1 321 neonates with positive screening and outpatients were received G6PD mutation detection, 12 kinds of common G6PD mutation in Chinese people was detected by using multicolor melting curve analysis (MMCA) method, for those with negative results, the enzyme activity and clinical information were analyzed, sequencing was recommended after informed consent when it is necessary.@*RESULTS@#Among 1321 patients, a total of 768 mutations were detected out, with a detection rate of 58.1%. A total of 18 types of G6PD genotypes were identified, including c.1388G>A, c.1376G>T, c.95G>A, c.1024C>T, c.871G>A, c.392G>T, c.487G>A, c.1360C>T, c.1004C>A, c.517T>C, c.592C>T, c.94C>G, c.152C>T, c.320A>G, c.1028A>G, c.1316G>A, c.1327G>C and c.1376G>C, including 683 male hemizygotes, 3 female homozygotes, 80 female heterozygotes and 2 female compound heterozygous.@*CONCLUSION@#A total of 18 types of G6PD mutations are identified in the reaserch, and c.94C>G, c.1028A>G and c.1327G>C are first reported in Chinese population. The most common G6PD mutation types in Wuhan are c.1388G>A, c.1376G>T, c.95G>A.

Hb Bart's Quantitative Analysis in the Screening of α-Thalassemia / 中国实验血液学杂志

OBJECTIVE@#To research the relationship between difference types of α-thalassemia gene types and Hb Bart's hemoglobin bands.@*METHODS@#Capillary electrophoresis was used to screen thalassemia gene for the newborn form January 2020 to December 2020, and the thalassemia gene was detected by PCR or PCR-NGS in the positive patients. The relationship between α-thalassemia gene and Hb Bart's hemoglobin was compared and analyzed statistically.@*RESULTS@#There were significant differences in Hb Bart's hemoglobin among the different α-thalassemia mutation types, Hb Bart's was the highest in --SEA/-α@*CONCLUSION@#The Hb Bart's content of different genotypes of α-thalassemia are significantly different. The Hb Bart's content shows high application value in α-thalassemia screening and genotyping identification.

Comparison of quantitative analysis between QGS and ECTb software programs used in gated myocardial perfusion imaging / 上海交通大学学报（医学版）

Objective • To study the differences and correlations of quantitative analysis between Cedars-Sinai quantitative gated SPECT (QGS) and Emory cardiac toolbox (ECTb) used in single photon emission computed tomography (SPECT) gated myocardial perfusion imaging (G-MPI). Methods • A total of 28 patients were examined with 99mTc-methoxyisobutylisonitrile (99mTc-MIBI) SPECT G-MPI. The left ventricular ejection fraction (LVEF), end-diastolic volume (EDV), end-systolic volume (ESV), phase histogram bandwidth (PHB) and phase standard deviation (PSD) were calculated with QGS and ECTb. The correlations and differences of the results from these two programs were analyzed. Results • These two software programs showed high correlation for LVEF, EDV and ESV (LVEF: r=0.917, P=0.000. EDV: r=0.976, P=0.000. ESV: r=0.981, P=0.000). The analysis showed no significant correlation for PHB and PSD (PHB: r=0.319, P=0.055. PSD: r=0.172, P=0.310). In the analysis of cardiac function, the ESV measured by QGS was higher than that measured by ECTb, and the EDV and LVEF were lower than those measured by ECTb. In the phase analysis, the PSD and PHB measured by QGS were lower than those measured by ECTb. These differences between the results measured by the two software programs were not consistency. There were significant differences in LVEF, ESV and PSD in the comparison of QGS and ECTb [LVEF: (47.8±16.9)% vs (57.4±17.2)%, P=0.000. ESV: (67.5±51.0) mL vs (58.3±50.0) mL, P=0.000. PSD: 20.5º±10.3º vs 30.6º±18.9º, P =0.004]. The EDV and PHB showed no significant difference between the QGS and ECTb [EDV: (116.8±52.8) mL vs (120.8±55.7) mL, P=0.050. PHB: 72.2º±37.0º vs 86.1º±55.7º, P=0.139]. Conclusion • These two software programs have good consistency in quantitative analysis of cardiac function. But the result shows no significant consistent in the evaluation of left ventricular mechanical dyssynchrony. There are differences between the data measured by QGS and ECTb. Using the results measured by the two software programs for direct comparison may be not suitable in clinical applications. The differences between these two software programs indicate that it may be necessary to establish a normal databases in clinical work based on the local conditions.