Results 21 to 30 of about 156,253 (302)

Optical genome mapping for detection of chromosomal aberrations in prenatal diagnosis

Acta Obstetricia et Gynecologica Scandinavica, 2023
Introduction Chromosomal aberrations are the most important etiological factors for birth defects. Optical genome mapping is a novel cytogenetic tool for detecting a broad range of chromosomal aberrations in a single assay, but relevant clinical ...
Qinxin Zhang, Yan Wang, Yiyun Xu, Ran Zhou, Mingtao Huang, Fengchang Qiao, Lulu Meng, An Liu, Jing Zhou, Li Li, Xiuqing Ji, Zhengfeng Xu, Ping Hu   +12 more
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Pregnancy with Concomitant Chorioangioma and Placental Mesenchymal Dysplasia: A Rare Placental Abnormality

Case Reports in Obstetrics and Gynecology, 2013
Background. Pregnancy with concomitant chorioangioma and placental mesenchymal dysplasia (PMD) coexisting with a normal viable fetus is very rare. The literature was reviewed to explore the incidence and genetic origin of this condition. Case.
Wu Qichang, Wang Wenbo, Zheng Liangkai, Kong Hui, He Xiaoqin, Sun Li, Xu Yasong   +6 more
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Systematic analysis of copy number variants of uncertain significance partially overlapping with the haploinsufficient or triplosensitive genes in clinical testing

Annals of Medicine, 2023
Background: Copy number variants of uncertain significance (VUS) has brought much distress for patients and great counselling challenges for clinicians.
Ran Zhou, Jiao Jiao, Yan Wang, Lulu Meng, Yiming Li, Yiyun Xu, Ping Hu, Zhengfeng Xu   +7 more
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Detection rates of abnormalities in over 10,000 amniotic fluid samples at a single laboratory

BMC Pregnancy and Childbirth, 2023
Background A growing number of cytogenetic techniques have been used for prenatal diagnosis. This study aimed to demonstrate the usefulness of karyotyping, BACs-on-Beads (BoBs) assay and single nucleotide polymorphism (SNP) array in prenatal diagnosis ...
Sha Lu, Nisile Kakongoma, Wen-sheng Hu, Yan-zhen Zhang, Nan-nan Yang, Wen Zhang, Ai-fen Mao, Yi Liang, Zhi-fen Zhang   +8 more
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Case Report: The third-generation sequencing confirmed a novel 7.2 Kb deletion at β-globin gene in a patient with rare β-thalassemia

Frontiers in Genetics, 2022
Background: Thalassemia was the most common monogenic diseases worldwide, which was caused by mutations, deletions or duplications in human globin genes which disturbed the synthesis balance between α- and β-globin chains of hemoglobin.
Guoxing Zhong, Zeyan Zhong, Zhiyang Guan, Dina Chen, Zhiyong Wu, Kunxiang Yang, Dan Chen, Yinyin Liu, Ruofan Xu, Jianhong Chen   +9 more
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11q13.3q13.4 deletion plus 9q21.13q21.33 duplication in an affected girl arising from a familial four‐way balanced chromosomal translocation

Molecular Genetics & Genomic Medicine, 2023
Background We describe a 13‐year‐old girl with a 11q13.3q13.4 deletion encompassing the SHANK2 gene and a 9q21.13q21.33 duplication. She presented with pre‐ and postnatal growth retardation, global developmental delay, severe language delay, cardiac ...
Qinxin Zhang, Yan Wang, Jing Zhou, Ran Zhou, An Liu, Lulu Meng, Xiuqing Ji, Ping Hu, Zhengfeng Xu   +8 more
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Etiology and Perinatal Outcome of Nonimmune Hydrops Fetalis in Southern China

American Journal of Perinatology Reports, 2017
Objective This study aims to analyze the etiology and perinatal outcome of nonimmune hydrops fetalis (NIHF) in Southern China. Methods All cases with NIHF diagnosed antenatally from January 1, 2007 to December 31, 2014 were identified and ...
Sheng He, Linlin Wang, Pingshan Pan, Hongwei Wei, Dahua Meng, Juan Du, Xiaoxian Tian, Chenguang Zheng, Xiaoxia Qiu, Guoyang Luo   +9 more
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Genetic analysis of 62 Chinese families with Duchenne muscular dystrophy and strategies of prenatal diagnosis in a single center

BMC Medical Genetics, 2019
Background Duchenne muscular dystrophy (DMD) is a severe X-linked recessive neuromuscular disorder. Patients with DMD usually have severe and fatal symptoms, including progressive irreversible muscle weakness and atrophy complicated with gastrocnemius ...
Jingjing Zhang, Dingyuan Ma, Gang Liu, Yuguo Wang, An Liu, Li Li, Chunyu Luo, Ping Hu, Zhengfeng Xu   +8 more
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Case Report: Prenatal Diagnosis of a Fetus With Harlequin Ichthyosis Identifies Novel Compound Heterozygous Variants: A Case Report

Frontiers in Genetics, 2021
BackgroundHarlequin ichthyosis (HI) is the most severe form of the keratinizing disorders, and it is characterized by whole-body hard stratum corneum. ABCA12 has been identified as the major disease-causing gene of HI.MethodsA case of HI was prenatally ...
Jiao Liu, Xingyu Zhang, Weilan Wang, Xiaofang Lan, Minyue Dong, Kai Yan, Yongliang Lei, Penglong Chen, Mufeng Yang, Qunda Shan, Chunlei Jin   +10 more
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Reproductive outcomes in couples with sporadic miscarriage after embryonic chromosomal microarray analysis

Annals of Medicine, 2023
Objectives Chromosomal microarray analysis (CMA) has been widely applied to genetic diagnosis in miscarriages in clinical practice. However, the prognostic value of CMA testing of products of conception (POCs) after the first clinical miscarriage remains
Zhengyi Xia, Ran Zhou, Yiming Li, Lulu Meng, Mingtao Huang, Jianxin Tan, Fengchang Qiao, Hui Zhu, Ping Hu, Qiaoying Zhu, Zhengfeng Xu, Yan Wang   +11 more
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