中华医学遗传学杂志最新文献

{"title":"[Non-invasive prenatal screening in three cases of vanishing twin syndrome and a literature review].","authors":"Xinni Shu, Jiexia Yang, Yousheng Wang, Zhuanping Zhang, Fangfang Guo, Haishan Peng, Dongmei Wang, Yaping Hou","doi":"10.3760/cma.j.cn511374-20240603-00336","DOIUrl":"10.3760/cma.j.cn511374-20240603-00336","url":null,"abstract":"<p><strong>Objective: </strong>To assess the impact of vanishing twin syndrome (VTS) on the accuracy of non-invasive prenatal testing (NIPT).</p><p><strong>Methods: </strong>Three pregnant women who underwent NIPT testing at Guangdong Women and Children's from November 2019 to February 2020 were selected as the study subjects. The three women had either vanish twin syndrome or had undergone fetal reduction for other reasons in one of their twins, and were subsequently subject to NIPT, chromosome karyotyping, chromosome microarray analysis (CMA), and short tandem repeat (STR) analysis. This study has been approved by the Medical Ethics Committee of Guangdong Maternal and Child Health Hospital (Ethics No.: 20230132).</p><p><strong>Results: </strong>Case 1 underwent selective fetal reduction at 8⁺ weeks of gestation. At 17⁺ weeks, NIPT showed a fetal DNA fraction of 2.806%, with results indicating the presence of Y chromosome and abnormal sex chromosome ratios. However, the women had subsequent uncomplicated vaginal delivery of a female infant, and no abnormality noted. Case 2 experienced spontaneous demise of one twin at 13 weeks' gestation. At 19 weeks, NIPT indicated a high risk for chromosome 21 (Z-score 4.671) in the surviving fetus, but subsequent evaluation showed no abnormality. Case 3, a dichorionic diamniotic (DCDA) twin pregnancy, underwent selective reduction at 13⁺ weeks due to fetal abnormalities in one twin. At 22⁺ weeks, NIPT for the surviving fetus indicated a high risk for chromosome 21 (Z-score 17.549), but subsequent evaluation was unremarkable.</p><p><strong>Conclusion: </strong>In twin pregnancies, the relatively low cell-free fetal DNA (cffDNA) concentration can compromise the success rate and accuracy of NIPT compared to singleton pregnancies. Residual DNA from the demised fetus may persist for weeks following VTS or selective reduction, potentially causing false-positive NIPT results and interfering with sex chromosome prediction for the surviving fetus. Additionally, determining chorionicity is critical for reliable interpretation of NIPT results in twin pregnancies.</p>","PeriodicalId":39319,"journal":{"name":"中华医学遗传学杂志","volume":"42 7","pages":"855-861"},"PeriodicalIF":0.0,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145065786","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Expert consensus on the clinical diagnosis and management of Talocalcaneal coalition (2025 Edition)].","authors":"Foot And Ankle Group Orthopedics Branch Of Chinese Medical Association, Professional Committee For Foot And Ankle Surgery Orthopedics Branch Chinese Medical Doctor Association, Clinical Genetics Group Medical Geneticist Branch Chinese Medical Doctor Association, Group Of Genetic Disease Prevention And Control Birth Defect Prevention And Control Committee Chinese Society Of Preventive Medicine, Yong Hu, Xin Ma","doi":"10.3760/cma.j.cn511374-20250518-00308","DOIUrl":"10.3760/cma.j.cn511374-20250518-00308","url":null,"abstract":"<p><p>Talocalcaneal coalition is one of the most common tarsal coalitions caused by bone, cartilage or fibrous connection between the talus and calcaneus due to congenital factors. Many patients have no obvious symptoms, and the onset is mostly manifested by bony protrusions of the medial malleolus, pain when walking, and impaired mobility of the subtalar joint. Missed diagnosis and inappropriate treatment often occurred for its low incidence and insidious onset. Therefore, the Foot and Ankle Group of Orthopedics Branch of Chinese Medical Association, Professional Committee for Foot and Ankle Surgery of the Orthopedics Branch of Chinese Medical Doctor Association, Clinical Genetics Group of the Medical Geneticist Branch of Chinese Medical Doctor Association, Group of Genetic Disease Prevention and Control of Birth Defect Prevention and Control Committee of Chinese Society of Preventive Medicine have formulated a consensus on the diagnosis, classification and clinical treatment of calcaneal talus bridge based on research home and abroad, and experience on its clinical diagnosis and treatment of well-known experts, with an aim to provide a reference for clinical practice.</p>","PeriodicalId":39319,"journal":{"name":"中华医学遗传学杂志","volume":"42 7","pages":"830-838"},"PeriodicalIF":0.0,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145065819","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Expert consensus on the clinical diagnosis and treatment of Split-hand/foot malformations (2025 Edition)].","authors":"Obstetrics And Gynecology Ultrasound Group Ultrasound Branch Of Chinese Medical Association, Clinical Genetics Group Medical Geneticist Branch Chinese Medical Doctor Association, Group Of Genetic Disease Prevention And Control Birth Defect Prevention And Control Committee Chinese Society Of Preventive Medicine, Qiji Liu, Bin Wang, Lingqian Wu","doi":"10.3760/cma.j.cn511374-20250518-00305","DOIUrl":"10.3760/cma.j.cn511374-20250518-00305","url":null,"abstract":"<p><p>Split-hand/foot malformation (SHFM), also known as ectrodactyly (ED), is a group of congenital limb malformations characterized by partial or complete aplasia of the central rays of the hand and/or foot, with variable fusion of the remaining digits. These conditions can severely impact the functions of the limbs, with an incidence ranging from 1/90 000 to 1/8 500, and account for 8% to 17% of all limb malformations. The typical clinical manifestation include median clefts of the hands/feet, syndactyly, and hypoplasia or aplasia of phalanges and metacarpal/metatarsal bones. SHFM are genetically heterogeneous and mainly inherited as an autosomal dominant trait with incomplete penetrance. With the development of genetic technology, early diagnosis of SHFM can be achieved, which may provide crucial information for clinical management. Clinically, plastic and hand-foot surgeons have proposed integrated solutions for aesthetic repair and and functional reconstructions. To standardize the diagnosis and management of SHFM, the Obstetrics and Gynecology Ultrasound Group of Ultrasound Branch of Chinese Medical Association, Clinical Genetics Group of Medical Geneticist Branch of Chinese Medical Doctor Association, and Group of Genetic Disease Prevention and Control, Birth Defect Prevention and Control Committee, Chinese Society of Preventive Medicine has formulated a multidisciplinary expert consensus through discussions by specialists with backgrounds from genetics, plastic surgery, and hand-foot surgery, with an aim to guide precise clinical decision-making, genetic counseling, and personalized interventions.</p>","PeriodicalId":39319,"journal":{"name":"中华医学遗传学杂志","volume":"42 7","pages":"779-788"},"PeriodicalIF":0.0,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145065774","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Expert consensus on the clinical diagnosis and management of Congenital brachydactyly (2025 Edition)].","authors":"Consortium For The Clinical Diagnosis And Treatment Of Congenital Brachydactyly, Medical Geneticists Branch Of Chinese Medical Doctor Association, Rare Disease Branch Of Chinese Medical Association, Medical Genetics Branch Of Beijing Medical Association, Xiuli Zhao","doi":"10.3760/cma.j.cn511374-20250518-00307","DOIUrl":"10.3760/cma.j.cn511374-20250518-00307","url":null,"abstract":"<p><p>Brachydactyly (BD) is a common congenital deformity of the hands and feet resulting from shortening, absence, or fusion of phalanges and metatarsals. Clinically, BD is categorized into isolated, complex and syndromic forms based on the presence of co-morbid congenital manifestations. The diagnosis of BD primarily depends on the examination of the appearance, along with the anteroposterior (AP) X-ray of hands and feet. Bell classified the isolated BD into five types based on the location and number of involved bones. Some BD can be further subdivided into several subtypes according to the severity of the patient's condition and the pathogenic genes. BD shows familial clustering and is mainly inherited in an autosomal dominant manner. The application of high-throughput sequencing has advanced the understanding of the pathogenetic mechanisms of BD. The treatment of BD primarily consists of surgical procedures and rehabilitation training, emphasizing the enhancement functionality and aesthetics of hand and foot. This consensus was initiated by the Hand and Foot Deformities Research Team at Chinese Academy of Medical Sciences Peking Union Medical College Hospital, and refined through multiple rounds of discussions among experts from multiple disciplines. The consensus is intended to facilitate standardized approaches to the diagnosis and treatment of BD, and improve the clinical diagnosis, etiological analysis, clinical intervention, and genetic counseling for BD patients and their families.</p>","PeriodicalId":39319,"journal":{"name":"中华医学遗传学杂志","volume":"42 7","pages":"802-809"},"PeriodicalIF":0.0,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145065803","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Key updates in the 2024 Edition of the International System for Human Cytogenomic Nomenclature (ISCN)].","authors":"Hao Wang, Yi Lai, Juan Wen, Na Hao","doi":"10.3760/cma.j.cn511374-20250523-00324","DOIUrl":"10.3760/cma.j.cn511374-20250523-00324","url":null,"abstract":"<p><p>The International System for Human Cytogenomic Nomenclature (ISCN) is a standardized international nomenclature system established by the International Standing Committee on Human Cytogenomic Nomenclature (ISCN SC). It is designed for describing chromosomal or genomic abnormalities detected by commonly used genetic and genomic techniques including but not limited to karyotyping, fluorescence in situ hybridization, microarray, genome mapping, various region-specific assays, and high-throughput sequencing. With a history spanning over six decades, the ISCN was revised by the ISCN SC in 2024 and officially published in September 2024. This article provides a summary for the updates introduced in the 2024 edition of the International System for Human Cytogenomic Nomenclature.</p>","PeriodicalId":39319,"journal":{"name":"中华医学遗传学杂志","volume":"42 7","pages":"848-854"},"PeriodicalIF":0.0,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145065804","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Expert consensus on the clinical diagnosis and management of Arthrogryposis multiplex congenita (2025 Edition)].","authors":"Obstetrics And Gynecology Ultrasound Group Ultrasound Medical Branch Of Chinese Medical Association, Clinical Genetics Group Medical Geneticist Branch Chinese Medical Doctor Association, Group Of Genetic Disease Prevention And Control Birth Defect Prevention And Control Committee Chinese Society Of Preventive Medicine, Lei Zhu","doi":"10.3760/cma.j.cn511374-20250518-00306","DOIUrl":"10.3760/cma.j.cn511374-20250518-00306","url":null,"abstract":"<p><p>Arthrogryposis multiplex congenita (AMC) is a clinical syndrome with complex etiology. It is a non-progressive syndrome characterized by joint deformity and stiffness, muscle atrophy, reduction of skin folds and subcutaneous tissue, and contracture of periarticular tissue, and can affect children in whom there are at least 2 or more joint contractures in multiple areas. AMC may be divided into amyoplasia, distal arthrogryposis, central nervous system and neuromuscular diseases which can be diagnosed by prenatal ultrasound and genetic testing, as well as by clinical evaluation, genetic examination, neuromuscular electrophysiological examination, imaging examination and special laboratory examination after birth. The goal of treatment is to improve the self-care ability of children, and the methods mainly include rehabilitation therapy, splint support and orthotic fixation, as well as orthopedic surgery. The Obstetrics and Gynecology Ultrasound Group of the Ultrasound Branch of Chinese Medical Association, Clinical Genetics Group of the Medical Genetics Branch of Chinese Medical Association, and the Genetic Disease Prevention and Control Group of Birth Defects Prevention and Control Professional Committee of Chinese Preventive Medicine Association have organized experts to develop this consensus through multiple rounds of discussions, with an aim to provide reference for clinicians to better understand and standardize the diagnosis and treatment of this disease, and promote the development of related industries.</p>","PeriodicalId":39319,"journal":{"name":"中华医学遗传学杂志","volume":"42 7","pages":"820-829"},"PeriodicalIF":0.0,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145065846","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Expert consensus on the quality control of in situ culture technique for amniotic fluid cells on slides (2025 Edition)].","authors":"Clinical Genetics Group Of The Medical Geneticists Branch Of Chinese Medical Doctor Association, Genetic Disease Control Group Of The Professional Committee On Birth Defect Prevention Chinese Preventive Medicine Association, Xiaohua Tang, Lingqian Wu","doi":"10.3760/cma.j.cn511374-20250517-00302","DOIUrl":"10.3760/cma.j.cn511374-20250517-00302","url":null,"abstract":"<p><p>Amniotic fluid cell culture and chromosomal karyotyping analysis have significant value in prenatal diagnosis. Conventionally, amniotic fluid cells were cultured in bottles, and were then digested to prepare chromosomes for karyotyping analysis. This process has certain limitations including long culturing time, requirement for cell transfer, and potential loss of clone information. In-situ culturing technique on glass slides for amniotic fluid cells has the advantages of simple operation, direct in-situ culture and cell harvest, direct automatic scanning of the glass slides, karyotyping analysis based on clones, and shortening the reporting cycle. It has been adopted by more and more prenatal diagnostic laboratories. To ensure the quality control of this technology, the Clinical Genetics Group of the Medical Geneticist Branch of Chinese Medical Doctor Association and Genetic Disease Control Group of the Professional Committee on Birth Defect Prevention, Chinese Preventive Medicine Association have jointly organized experts to discuss and formulate this consensus. The content has included the operation procedure of in-situ culture on glass slides, chromosomal harvesting and preparation, karyotyping analysis, and quality control of the laboratory.</p>","PeriodicalId":39319,"journal":{"name":"中华医学遗传学杂志","volume":"42 7","pages":"839-847"},"PeriodicalIF":0.0,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145065797","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Genetic analysis of 74 fetuses terminated for skeletal dysplasia and evaluation of diagnostic performance of whole exome sequencing].","authors":"Jiashan Li, Siying Liang, Yan Miao, Xiaoyu Du, Meiyan Han, Wei Zhao, Nan Jiang, Yingchao Zhou","doi":"10.3760/cma.j.cn511374-20250623-00382","DOIUrl":"10.3760/cma.j.cn511374-20250623-00382","url":null,"abstract":"<p><strong>Objective: </strong>To explore the genetic etiology of fetal skeletal dysplasia using whole exome sequencing (WES) and copy number variation sequencing (CNV-seq) techniques, and the feasibility of using WES as the first-tier method for such fetuses.</p><p><strong>Methods: </strong>Seventy four fetuses with skeletal dysplasia detected by prenatal ultrasound at the Genetic Testing Center of the Women and Children's Hospital Affiliated to Qingdao University from January 2020 to August 2024 were selected as the study subjects. Fetal muscle and peripheral blood samples of the pregnant women and their spouses were collected and subjected to WES analysis. CNV-seq was carried out on all fetal muscle tissue samples. And the results were compared with the CNVs indicated by WES. Genetic etiologies were analyzed across different subtypes of skeletal dysplasia. And the feasibility of using WES as the first-tier genetic test for similar fetuses was assessed, in addition with a systematic cost-effectiveness analysis. This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: QFELL-YJ-2024-201).</p><p><strong>Results: </strong>A total of 50 fetuses were diagnosed, which yielded a diagnostic rate of 67.57%. These included 6 chromosomal aneuploidies, 4 chromosomal CNVs and 40 monogenic disorders. The monogenic diseases had involved 46 variant sites in 23 pathogenic genes, among which 12 were unreported previously, including MYH3: c.735T>C, ALPL: c.1324C>T, NEK9: c.1973G>A, MAGEL2: c.2024_2025del, LMBR1: c.423+4914A>C, NEB: c.21273_21276del, COL1A1: c.2651G>C and c.2758G>C, ASPM: c.2473delinsGA, TBX5: c.704G>A, DYNC2H1: c.10893del, and DYNC2I2: c.1270C>T. Substantial concordance was reached between WES-derived CNV calls and CNV-seq findings. No clinically significant CNV was exclusively detected by CNV-seq. Cost-effectiveness modeling demonstrated that implementing WES as the first-tier genetic testing method could reduce the total expenditure when WES unit cost remained below 6.4 folds that of the CNV-seq.</p><p><strong>Conclusion: </strong>Genetic variants including single nucleotide variations (SNV) of monogenic disorders, chromosomal aneuploidies and genomic CNVs are important causes for fetal skeletal dysplasia. WES is an accurate and efficient method for analyzing the etiology of fetal skeletal dysplasia, particularly in those with a family history of similar phenotype or maternal history of adverse pregnancies.</p>","PeriodicalId":39319,"journal":{"name":"中华医学遗传学杂志","volume":"42 7","pages":"869-882"},"PeriodicalIF":0.0,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145065795","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Expert consensus on the prenatal ultrasound screening, diagnosis, and genetic counseling for Limb developmental defects (2025 Edition)].","authors":"Obstetrics And Gynecology Ultrasound Group Ultrasound Branch Of Chinese Medical Association, Clinical Genetics Group Medical Geneticist Branch Chinese Medical Doctor Association, Group Of Genetic Disease Prevention And Control Birth Defect Prevention And Control Committee Chinese Society Of Preventive Medicine, Lingqian Wu, Qingqing Wu","doi":"10.3760/cma.j.cn511374-20250517-00303","DOIUrl":"10.3760/cma.j.cn511374-20250517-00303","url":null,"abstract":"<p><p>Fetal limb development defects have a relatively high incidence among congenital skeletal development abnormalities, for which genetic variations are important causes. Standardized prenatal ultrasound screening, diagnosis, and genetic testing and counseling play a significant role in the early diagnosis, intervention, and treatment of limb development defects. This consensus provides practical operation methods for prenatal ultrasound screening and diagnosis of major long bones of the limbs (femur, tibia/fibula, humerus, ulna/radius) defects and complete absence of hands and feet, in addition with standardized guidance for the detection path of genetic variations and genetic counseling, with an aim to provide a systematic reference for prenatal diagnosis and counseling of fetal limb development defects in clinical practice.</p>","PeriodicalId":39319,"journal":{"name":"中华医学遗传学杂志","volume":"42 7","pages":"769-778"},"PeriodicalIF":0.0,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145065835","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Precise preimplantation genetic testing for a Chinese pedigree carrying a small segmental copy number variation].","authors":"Wenxiu Zhu, Yankun Wang, Lei Wang, Beiqing Li, Han Wei, Yang Zhang, Guiyuan He, Jia Fei, Ming Shi","doi":"10.3760/cma.j.cn511374-20250526-00330","DOIUrl":"10.3760/cma.j.cn511374-20250526-00330","url":null,"abstract":"<p><strong>Objective: </strong>To block family transmission of a small fragment copy number variation (CNV) with combined 1 Mb resolution preimplantation genetic testing for aneuploidy (PGT-A) and target region preimplantation genetic testing for monogenic disease (PGT-M) strategies.</p><p><strong>Methods: </strong>A couple who attended the Reproductive and Genetic Medicine Center of Dalian Women and Children's Medical Center (Group) in 2024 were selected as the study subject. Upon the woman's two pregnancies, ultrasound examination revealed fetal abnormalities, and CNV-seq based on low-depth whole genome sequencing revealed that both fetuses had carried a maternal 17p12 microduplication of approximately 1.43 Mb. Microduplication in this region has been associated with Charcot-Marie-Tooth disease type 1A. In view of the fact that the resolution of conventional PGT-A detection cannot meet the requirement of small fragment CNV analysis, and conventional PGT-M assay cannot directly determine the CNV, two detection schemes were adopted. On the one hand, PGT-A testing with 1 Mb resolution was performed on the embryo to directly determine whether it carries the above microduplication. At the same time, the couple and their fetus were subjected to chromosomal typing scheme for the 17p12 region to indirectly identify embryos carrying the risk chromosome for microduplication. This study has been approved by the Medical Ethics Committee of the Hospital (Ethics No: FEJT-KY-2025-51).</p><p><strong>Results: </strong>Three embryos were tested after the first PGT cycle, of which 1 was not carrying the pathogenic variant and was euploid, whilst the other 2 embryos were carrying the 17p12 microduplication, and 1 of them was aneuploid. After genetic counseling, the euploid embryo without the 17p12 microduplication was selected for transfer, and prenatal diagnosis based on amniotic fluid sample showed that the fetal chromosomal karyotype was normal and did not carry the 17p12 microduplication.</p><p><strong>Conclusion: </strong>The combined application of high-resolution PGT-A and PGT-M typing detection of the target region can effectively block family transmission of the CNVs of small fragments.</p>","PeriodicalId":39319,"journal":{"name":"中华医学遗传学杂志","volume":"42 7","pages":"862-868"},"PeriodicalIF":0.0,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145065912","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}