OBJECTIVE: To explore the genotype-phenotype correlation in a Chinese family with structural brain abnormalities due to variant of the TUBB gene. METHODS: A family undergoing prenatal diagnosis at Beijing Obstetrics and Gynecology Hospital in October 2024 was selected as the study subject. Clinical data were collected. Amniotic fluid sample was subjected to chromosomal copy number variation sequencing (CNV-seq). Trio whole-exome sequencing (Trio-WES) was carried out on the amniotic fluid and parental blood samples, and candidate variant was verified by Sanger sequencing. This study was approved by the Medical Ethics Committee of the hospital (Ethics No.: 2023-KY-076-01). RESULTS: Both prenatal ultrasound and fetal MRI showed deviation of brain midline, unilateral lateral ventriculomegaly, and bilateral gyral asymmetry. Trio-WES revealed that the fetus has harbored a maternally derived heterozygous missense variant of the TUBB gene [NM_178014.4: c.155A>G (p.N52S)]. Sanger sequencing confirmed that the woman and a previously terminated fetus both harbored the same variant. Both the proband and two fetuses exhibited similar neuroimaging abnormalities including midline deviation and asymmetrical gyri. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as likely pathogenic (PM2_Supporting+PS2_Moderate+PS3). CONCLUSION The heterozygous c.155A>G (p.N52S) variant was the TUBB gene probably underlay the pathogenesis of the structural brain abnormalities in this family. Above findings have expanded the phenotypic spectrum associated with the variant and facilitated the prenatal diagnosis for this family.
Humans ; Female ; Pregnancy ; Prenatal Diagnosis ; Tubulin/genetics* ; Adult ; Brain/diagnostic imaging* ; Male ; Pedigree ; DNA Copy Number Variations/genetics* ; Exome Sequencing ; Genetic Association Studies ; Magnetic Resonance Imaging

OBJECTIVE: To assess the value of copy number variation analysis based on next generation sequencing (CNV-seq) in prenatal diagnosis for women at advanced maternal age. METHODS: A prospective analysis was carried out for women who underwent amniocentesis at 18~36 weeks of gestation for fetal CNV-seq for advanced maternal age. RESULTS: For 1461 unrelated Chinese women with a singleton pregnancy, CNV-seq was performed for all samples successfully. The proportion of chromosomal abnormalities was 2.3% (34/1461), of which 44.12% were submicroscopic copy number variations (<5 Mb). CONCLUSION Pregnant women at an advanced maternal age should be informed for not only common trisomies but all pathogenic chromosomal aberrations. NGS was a sensitive and accurate approach for detecting CNVs.
Chromosome Aberrations ; Chromosome Disorders ; DNA Copy Number Variations ; Female ; Humans ; Maternal Age ; Pregnancy ; Prenatal Diagnosis ; Prospective Studies

Some problems are arisen in teaching diagnostic pathology in our college for postgradu-ates of Pathology and Pathophysiology, the students' basic knowledge is weak, the cycle is short, the teaching team and resources are relatively insufficient. To promote the cultivation of graduate students, we should carry out the CBL teaching method, add the clinical practice and training, strengthen the teaching staff, and apply digital section and network platform.

OBJECTIVE: To evaluate image quality of female pelvic computed tomography (CT) scans reconstructed with the adaptive statistical iterative reconstruction (ASIR) technique combined with low tube-voltage and to explore the feasibility of its clinical application. MATERIALS AND METHODS: Ninety-four patients were divided into two groups. The study group used 100 kVp, and images were reconstructed with 30%, 50%, 70%, and 90% ASIR. The control group used 120 kVp, and images were reconstructed with 30% ASIR. The noise index was 15 for the study group and 11 for the control group. The CT values and noise levels of different tissues were measured. The contrast to noise ratio (CNR) was calculated. A subjective evaluation was carried out by two experienced radiologists. The CT dose index volume (CTDIvol) was recorded. RESULTS: A 44.7% reduction in CTDIvol was observed in the study group (8.18 +/- 3.58 mGy) compared with that in the control group (14.78 +/- 6.15 mGy). No significant differences were observed in the tissue noise levels and CNR values between the 70% ASIR group and the control group (p = 0.068-1.000). The subjective scores indicated that visibility of small structures, diagnostic confidence, and the overall image quality score in the 70% ASIR group was the best, and were similar to those in the control group (1.87 vs. 1.79, 1.26 vs. 1.28, and 4.53 vs. 4.57; p = 0.122-0.585). No significant difference in diagnostic accuracy was detected between the study group and the control group (42/47 vs. 43/47, p = 1.000). CONCLUSION: Low tube-voltage combined with automatic tube current modulation and 70% ASIR allowed the low CT radiation dose to be reduced by 44.7% without losing image quality on female pelvic scan.
Adult ; Aged ; Body Mass Index ; Feasibility Studies ; Female ; Genital Diseases, Female/diagnosis/*radiography ; Humans ; Middle Aged ; Pelvis/*radiography ; Radiation Dosage ; Radiographic Image Interpretation, Computer-Assisted ; Signal-To-Noise Ratio ; *Tomography, X-Ray Computed