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Prenatal diagnosis of complete maternal uniparental isodisomy of chromosome 4 in a fetus without congenital abnormality or inherited disease-associated variations

Prenatal diagnosis of complete maternal uniparental isodisom...

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第十四次全国医学遗传学学术会议

作者： WeiQiang Liu HuiMin Zhang GuoJiu Yu Wenjun Qiu XiaoFang Sun Key Laboratory for Major Obstetric Diseases of Guangdong Province Key Laboratory for Reproduction and Genetics of Guangdong Higher Education InstitutesThird Affiliated Hospital of Guangzhou Medical University

Background:Prenatal diagnosis of complete uniparental isodisomy of chromosome4(iUPD4)subjects has rarely been reported and poses a great challenge for genetic *** this study,a prenatal case with a high(1 in 58)risk of Down syndrome was diagnosed with iUPD4 by combined chromosomal microarray analysis(CMA),whole exome sequencing(WES)and ultrasound morphology ***:CMA results indicated that no pathogenic copy number variant was detected;however,a complete maternal iUPD4 was identified in this fetus after analyzed the parental genotype *** detect potentially autosomal recessive variants,WES was *** missense and two frameshift variants were identified but predicted to be with uncertain significance;none of the mutations were definitively associated with congenital abnormality or inherited *** addition,detailed ultrasound morphology scan did not identify any structural abnormality,facial dysmorphisms or intrauterine growth *** family history was *** couple was counseled with the prenatal diagnostic results,and they opted to give birth to the *** phenotypic abnormalities were observed in this child after the first year of ***:This study provides further evidence that iUPD4may result in a healthy livebirth,and demonstrates that the combined use of CMA,WES and ultrasound technology provides additional information for the prenatal diagnosis and clinical management of rare UPD events.

关键词： Uniparental isodisomy chromosome 4 Chromosomal microarray analysis Whole exome sequencing Ultrasound

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Relationship Between Gene-Phenotype and Clinical Manifestations of Chromosomal Copy Number Variations Indicated by Non-Invasive Prenatal Testing

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Journal of Clinical and Nursing Research 2024年第1期8卷 88-95页

作者： Zixin Pi Xiaoyan Duan Jing Peng Yanhui Liu The First People’s Hospital of Jiangxia District Wuhan City(Union Jiangnan Hospital Huazhong University of Science and Technology)Wuhan 430200Hubei ProvinceChina Department of Reproductive Medicine Luohu HospitalShenzhenShenzhen 518005Guangdong ProvinceChina

Objective:To analyze the clinical value of non-invasive prenatal testing(NIPT)in detecting chromosomal copy number variations(CNVs)and to explore the relationship between gene expression and clinical manifestations of chromosomal copy number ***:3551 naturally conceived singleton pregnant women who underwent NIPT were included in this *** NIPT revealed abnormalities other than sex chromosome abnormalities and trisomy 13,18,and *** women with chromosome copy number variations underwent genetic counseling and prenatal ultrasound *** prenatal diagnosis and chromosome microarray analysis(CMA)were *** clinical phenotypes and pregnancy outcomes of different prenatal diagnoses were ***,a follow-up was conducted by telephone to track fetal development after birth,at six months,and one year ***:A total of 53 cases among 3551 cases showed chromosomal copy number *** prenatal diagnosis was performed in 36 cases:27 cases were negative and 8 were consistent with the NIPT test *** indicates that NIPT’s positive predictive value(PPV)in CNVs is 22.22%.Conclusion:NIPT has certain clinical significance in screening chromosome copy number variations and is expected to become a routine screening for chromosomal microdeletions and ***,further interventional prenatal diagnosis is still needed to identify fetal CNVs.

关键词： Non-invasive prenatal testing Chromosomal copy number variation chromosomes 1 and 3 chromosome 4 chromosome 7 chromosome 15 Prenatal diagnosis

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