OBJECTIVE: To investigate the genetic mechanism for adverse pregnancies due to submicroscopic chromosomal structural variants in two cases, and to provide a precise guidance for preimplantation genetic testing. METHODS: Two families who had visited Chengdu Women's and Children's Central Hospital for reproduction guidance due to recurrent miscarriages, adverse pregnancy history and abnormal genetic testing of the offspring in June and December 2023 were selected as the study subjects. Chromosomal karyotyping and optical genome mapping (OGM) were carried out on peripheral blood samples from the two couples, and preimplantation genetic testing for structural rearrangement (PGT-SR) were performed on the blastocyst trophoblasts. This study was approved by the Medical Ethics Committee of the Hospital (Ethic No.: 2023-23). RESULTS: No abnormality was found on the G-banded karyotyping analysis for both couples. The OGM results revealed that the female partner of couple 1 had a translocation between 4pter-p16.3 (3.99 Mb) and 11pter-p15.4 (2.66 Mb), whilst no abnormality was found in the male partner. Similarly, the male partner of couple 2 had a translocation between 19q13.43-qter (1.90 Mb) and 22q13.31-qter (3.34 Mb). No abnormality was found in the female partner of couple 2. Neither breakpoints nor the adjacent region had involved an OMIM gene, except the formation of a fusion gene ZIM2-AS1-Z82186.1 (Both genes are non-coding, and the fusion gene was deemed as variant of unknown significance). PGT-SR of 11 blastocysts derived from couple 1 revealed that one embryo was suitable for priority transfer, three embryos were suitable for transfer, one embryo was recommended for genetic counselling, and six embryos were unsuitable for the transfer. For couple 2, six blastocysts were tested, of which only one embryo was deemed suitable for transfer. CONCLUSION When genetic testing of offspring indicates copy number variations such as deletions, duplications or mosaicism, the high-resolution OGM technique can be selected to screen parents for submicroscopic chromosomal structural variations. The result can facilitate accurate assessment for the risk of recurrence in offspring, selection of suitable method for reproduction, and identifying targets for PGT.
Humans ; Female ; Pregnancy ; Adult ; Male ; Karyotyping ; Chromosome Aberrations ; Abortion, Habitual/genetics* ; Preimplantation Diagnosis ; Genetic Testing

Malignant tumors(commonly referred to as cancer)represent a major global public health challenge and contribute significantly to the worldwide disease burden.Early screening plays a critical role in improving detection rates,enabling timely intervention,and enhancing pa-tient survival rates.However,current cancer screening guidelines primarily focus on site-specific screening,which may not fully address the need for comprehensive early detection.A scientifical-ly rational,multi-cancer screening approach offers several advantages:it optimizes the use of bio-logical samples,reduces time costs for participants,enhances the efficiency and comprehensive-ness of screening,and minimizes overall expenses.Such an approach also facilitates the rational allocation of healthcare resources,ultimately helping to reduce the societal burden of cancer.To address this need,the Cancer Epidemiology Committee of the Chinese Anti-Cancer Association has developed the Expert Consensus on Combined Screening for Common Cancers in China.This consensus integrates multidisciplinary expertise and synthesizes the latest domestic and interna-tional researches on cancer screening,early detection,and treatment for prevalent malignancies.Drawing upon China's unique demographic and healthcare context,as well as practical screening experiences,the consensus provides evidence-based recommendations on target populations,screening technologies,and procedural workflows for multi-cancer screening.These guidelines align with the principles and methodologies established by the World Health Organization(WHO),aiming to:enhance the effectiveness of combined cancer screening in China,improve early detec-tion rates,and provide a scientific foundation for national cancer prevention and control strategies.

Malignant tumors(commonly referred to as cancers)represent a major global public health challenge and contribute substan-tially to the global disease burden.Early screening plays a crucial role in improving detection rates,enabling timely intervention,and enhan-cing patient survival.However,current cancer screening guidelines primarily focus on site-specific screening,which may not fully address the need for comprehensive early detection.A scientifically rational,multi-cancer screening approach offers several advantages:it optimizes the use of biological samples,reduces the time burden for participants,enhances the efficiency and comprehensiveness of screening,and min-imizes overall expenses.Moreover,this approach facilitates rational allocation of healthcare resources,ultimately helping to reduce the soci-etal burden of cancer.To address gap,the Cancer Epidemiology Committee of the China Anti-Cancer Association has developed the Expert Consensus on Combined Screening for Common Cancers.This consensus integrates multidisciplinary expertise and synthesizes the latest do-mestic and international researches on cancer screening,early detection,and treatment of prevalent malignancies.Drawing upon China's unique demographic and healthcare context and practical screening experiences,the consensus provides evidence-based recommendations on target populations,screening technologies,and procedural workflows for multi-cancer screening.These guidelines align with the prin-ciples and methodologies established by the World Health Organization(WHO),aiming to enhance the effectiveness of combined cancer screening in China,improve early detection rates,and provide a scientific foundation for national cancer prevention and control strategies.

As a chronic and complex disease,obesity can cause many other diseases.Obesity is influenced by many factors.At present,the main treatment methods for obesity are behavioral intervention,medication,endoscopic therapy,and sleeve gastrectomy.New break-throughs and progress have achieved in medication.This article mainly introduces the latest clinical situation and adverse reactions of several representative drugs in glucagon-like peptide-1 receptor agonists,such as liraglutide,semaglutide,and tirzepatide.This article mainly aims to analyze the safety and efficacy of these anti-obesity drugs and provide guidance for future clinical medication.

Malignant tumors (commonly referred to as cancer) represent a major global public health challenge and contribute significantly to the worldwide disease burden. Early screening plays a critical role in improving detection rates, enabling timely intervention, and enhancing patient survival rates. However, current cancer screening guidelines primarily focus on site-specific screening, which may not fully address the need for comprehensive early detection. A scientifically rational, multi-cancer screening approach offers several advantages: it optimizes the use of biological samples, reduces time costs for participants, enhances the efficiency and comprehensiveness of screening, and minimizes overall expenses. Such an approach also facilitates the rational allocation of healthcare resources, ultimately helping to reduce the societal burden of cancer. To address this need, the Cancer Epidemiology Committee of the Chinese Anti-Cancer Association has developed the Expert Consensus on Combined Screening for Common Cancers in China. This consensus integrates multidisciplinary expertise and synthesizes the latest domestic and international researches on cancer screening, early detection, and treatment for prevalent malignancies. Drawing upon China's unique demographic and healthcare context, as well as practical screening experiences, the consensus provides evidence-based recommendations on target populations, screening technologies, and procedural workflows for multi-cancer screening. These guidelines align with the principles and methodologies established by the World Health Organization (WHO), aiming to enhance the effectiveness of combined cancer screening in China, improve early detection rates, and provide a scientific foundation for national cancer prevention and control strategies.

Objective:To explore the clinical application value of ultrasound detection of endometrial blood flow perfusion in evaluating the pregnancy outcomes of frozen-thawed embryo transfer (FET) cycles.Methods:A case-control study of 226 patients underwent preimplantation genetic testing (PGT) in the Department of Reproductive Medicine of Chengdu Women's and Children's Central Hospital was conducted. Patients enrolled from December 2021 to August 2024 underwent three-dimensional ultrasound endometrial receptivity testing on the day before FET. According to the pregnancy outcomes, they were divided into clinical pregnancy group ( n=155) and non-pregnancy group ( n=71). The general characteristics and endometrial receptivity parameters were compared between the two groups. Binary logistic regression was used to analyze the factors affecting pregnancy. Results:There was no significant difference in age, proportion of primary infertility, anti-Müllerian hormone, and antral follicle count between the two groups (all P>0.05). The duration of infertility in the clinical pregnancy group [(2.79±2.45) years] was significantly lower than that in the non-pregnancy group [(3.44±1.68) years, P=0.046], the basal luteinizing hormone (LH) level in clinical pregnancy group [(4.37±3.02) U/L] was higher than that in the non-pregnancy group [(3.59±2.02) U/L, P=0.047]. On the day before embryo transfer, the single-plane endometrial blood flow branch in the pregnancy group (4.83±1.57) was more than that in the non-pregnancy group (3.44±1.51), the difference was statistically significant ( P=0.001). The clinical pregnancy group had significantly different endometrial morphology types A [5.2% (8/155)], B [25.8% (40/155)], and C [69.0% (107/155)] compared with the non-pregnancy group [16.9% (12/71), 33.8% (24/71), 49.3% (35/71), P=0.003], respectively, the number of peristalsis waves in the clinical pregnancy group [1(0, 2)] was less than that in the non-pregnancy group [1(0, 4), P=0.046]. There were no significant differences in endometrial thickness, peristaltic wave classification, endometrial volume, endometrial and subendometrial blood flow pulse index/resistance index between the two groups (all P>0.05). Binary logistic regression analysis showed that the endometrial blood flow branch, endometrial peristalsis and basal LH level were independent factors affecting the pregnancy outcome of patients underwent PGT during FET cycle ( OR=1.855, 95% CI: 1.478-2.327, P=0.001; OR=0.813, 95% CI: 0.667-0.990, P=0.040; OR=1.163, 95% CI: 1.000-1.351, P=0.049). Among them, the area under the receiver operating characteristic curve of endometrial blood flow branches for the prediction of PGT-FET pregnancy outcome was 0.725, P=0.001. Conclusion:Endometrial blood flow branch, which represents the intensity of blood perfusion, has a good clinical value in evaluating the pregnancy outcome during FET cycle.

Objective:To analyze the clinical features and pathogenic genes of a family with congenital cataracts.Methods:A pedigree analysis was performed.A Han Chinese family initially diagnosed with congenital cataracts at The Fourth Hospital of Shijiazhuang in March 2024 was enrolled.The proband and selected family members underwent detailed ophthalmic examinations.Potential cataract-associated genetic variants in the proband were identified using whole exome sequencing (WES). Sanger sequencing was employed to confirm the presence of these variants in the proband and other family members.The identified variants were analyzed in accordance with the guidelines of the American College of Medical Genetics and Genomics (ACMG). This study adhered to the Declaration of Helsinki.The research protocol was approved by the Ethics Committee of The Fourth Hospital of Shijiazhuang (No.20230074). Both the subjects and their guardians were informed of the study purpose and voluntarily signed the informed consent form.Results:The pedigree included four generations comprising 15 individuals, with three patients identified across the second, third, and fourth generations.These cases included two males and one female, specifically the proband, his mother, and his eldest son.The observed inheritance pattern aligned with an autosomal dominant mode, characterized by the clinical presentation of bilateral cataracts.WES identified a novel frameshift insertion variant c. 270_271insA in exon 2 of the CRYAB gene in the proband, resulting in a valine-to-serine substitution at amino acid position 91.This variant induced early termination of translation following the expression of two additional amino acids, loss of 84 amino acids (p.V91Sfs2) and the production of a functionally impaired protein.The Sanger sequencing validation results were consistent with the co-segregation.According to the ACMG classification criteria (PM2+ PP1+ PVS1), the variant was classified as likely pathogenic. Conclusions:The frameshift insertion variant c. 270_271insA (p.V91Sfs2) in exon 2 of the CRYAB gene is likely the pathogenic cause of congenital cataract in this family.This is the first report of this variant.

Objective:To explore the clinical application value of ultrasound detection of endometrial blood flow perfusion in evaluating the pregnancy outcomes of frozen-thawed embryo transfer (FET) cycles.Methods:A case-control study of 226 patients underwent preimplantation genetic testing (PGT) in the Department of Reproductive Medicine of Chengdu Women's and Children's Central Hospital was conducted. Patients enrolled from December 2021 to August 2024 underwent three-dimensional ultrasound endometrial receptivity testing on the day before FET. According to the pregnancy outcomes, they were divided into clinical pregnancy group ( n=155) and non-pregnancy group ( n=71). The general characteristics and endometrial receptivity parameters were compared between the two groups. Binary logistic regression was used to analyze the factors affecting pregnancy. Results:There was no significant difference in age, proportion of primary infertility, anti-Müllerian hormone, and antral follicle count between the two groups (all P>0.05). The duration of infertility in the clinical pregnancy group [(2.79±2.45) years] was significantly lower than that in the non-pregnancy group [(3.44±1.68) years, P=0.046], the basal luteinizing hormone (LH) level in clinical pregnancy group [(4.37±3.02) U/L] was higher than that in the non-pregnancy group [(3.59±2.02) U/L, P=0.047]. On the day before embryo transfer, the single-plane endometrial blood flow branch in the pregnancy group (4.83±1.57) was more than that in the non-pregnancy group (3.44±1.51), the difference was statistically significant ( P=0.001). The clinical pregnancy group had significantly different endometrial morphology types A [5.2% (8/155)], B [25.8% (40/155)], and C [69.0% (107/155)] compared with the non-pregnancy group [16.9% (12/71), 33.8% (24/71), 49.3% (35/71), P=0.003], respectively, the number of peristalsis waves in the clinical pregnancy group [1(0, 2)] was less than that in the non-pregnancy group [1(0, 4), P=0.046]. There were no significant differences in endometrial thickness, peristaltic wave classification, endometrial volume, endometrial and subendometrial blood flow pulse index/resistance index between the two groups (all P>0.05). Binary logistic regression analysis showed that the endometrial blood flow branch, endometrial peristalsis and basal LH level were independent factors affecting the pregnancy outcome of patients underwent PGT during FET cycle ( OR=1.855, 95% CI: 1.478-2.327, P=0.001; OR=0.813, 95% CI: 0.667-0.990, P=0.040; OR=1.163, 95% CI: 1.000-1.351, P=0.049). Among them, the area under the receiver operating characteristic curve of endometrial blood flow branches for the prediction of PGT-FET pregnancy outcome was 0.725, P=0.001. Conclusion:Endometrial blood flow branch, which represents the intensity of blood perfusion, has a good clinical value in evaluating the pregnancy outcome during FET cycle.

Objective:To analyze the clinical features and pathogenic genes of a family with congenital cataracts.Methods:A pedigree analysis was performed.A Han Chinese family initially diagnosed with congenital cataracts at The Fourth Hospital of Shijiazhuang in March 2024 was enrolled.The proband and selected family members underwent detailed ophthalmic examinations.Potential cataract-associated genetic variants in the proband were identified using whole exome sequencing (WES). Sanger sequencing was employed to confirm the presence of these variants in the proband and other family members.The identified variants were analyzed in accordance with the guidelines of the American College of Medical Genetics and Genomics (ACMG). This study adhered to the Declaration of Helsinki.The research protocol was approved by the Ethics Committee of The Fourth Hospital of Shijiazhuang (No.20230074). Both the subjects and their guardians were informed of the study purpose and voluntarily signed the informed consent form.Results:The pedigree included four generations comprising 15 individuals, with three patients identified across the second, third, and fourth generations.These cases included two males and one female, specifically the proband, his mother, and his eldest son.The observed inheritance pattern aligned with an autosomal dominant mode, characterized by the clinical presentation of bilateral cataracts.WES identified a novel frameshift insertion variant c. 270_271insA in exon 2 of the CRYAB gene in the proband, resulting in a valine-to-serine substitution at amino acid position 91.This variant induced early termination of translation following the expression of two additional amino acids, loss of 84 amino acids (p.V91Sfs2) and the production of a functionally impaired protein.The Sanger sequencing validation results were consistent with the co-segregation.According to the ACMG classification criteria (PM2+ PP1+ PVS1), the variant was classified as likely pathogenic. Conclusions:The frameshift insertion variant c. 270_271insA (p.V91Sfs2) in exon 2 of the CRYAB gene is likely the pathogenic cause of congenital cataract in this family.This is the first report of this variant.

Malignant tumors(commonly referred to as cancer)represent a major global public health challenge and contribute significantly to the worldwide disease burden.Early screening plays a critical role in improving detection rates,enabling timely intervention,and enhancing pa-tient survival rates.However,current cancer screening guidelines primarily focus on site-specific screening,which may not fully address the need for comprehensive early detection.A scientifical-ly rational,multi-cancer screening approach offers several advantages:it optimizes the use of bio-logical samples,reduces time costs for participants,enhances the efficiency and comprehensive-ness of screening,and minimizes overall expenses.Such an approach also facilitates the rational allocation of healthcare resources,ultimately helping to reduce the societal burden of cancer.To address this need,the Cancer Epidemiology Committee of the Chinese Anti-Cancer Association has developed the Expert Consensus on Combined Screening for Common Cancers in China.This consensus integrates multidisciplinary expertise and synthesizes the latest domestic and interna-tional researches on cancer screening,early detection,and treatment for prevalent malignancies.Drawing upon China's unique demographic and healthcare context,as well as practical screening experiences,the consensus provides evidence-based recommendations on target populations,screening technologies,and procedural workflows for multi-cancer screening.These guidelines align with the principles and methodologies established by the World Health Organization(WHO),aiming to:enhance the effectiveness of combined cancer screening in China,improve early detec-tion rates,and provide a scientific foundation for national cancer prevention and control strategies.