Results 41 to 50 of about 2,435,290 (202)

P3-67 Patient and professional experiences with non-invasive prenatal diagnosis (NIPD) and testing (NIPT): social and ethical issues raised

, 2015
Objectives: The aim of this study is to gain a rich understanding of early experiences with emerging non-invasive prenatal diagnosis (NIPD) and non-invasive prenatal testing (NIPT) testing technologies.
Strange, Heather
core   +1 more source

Prenatal diagnosis of 4953 pregnant women with indications for genetic amniocentesis in Northeast China

Molecular Cytogenetics, 2019
Background Several different technologies are used for prenatal screening procedures and genetic diagnostic technologies. We aimed to investigate the rates of chromosomal abnormalities in cases with different abnormal prenatal indications and to ...
Rulin Dai, Yang Yu, Qi Xi, Xiaonan Hu, Haibo Zhu, Ruizhi Liu, Ruixue Wang   +6 more
doaj   +1 more source

P622: NIPS dilemma in the context of consanguinity: Considerations for counseling

Genetics in Medicine Open, 2023
Noura Osman, Kathryn Rice, Herman Hedriana, Krishna Singh   +3 more
doaj   +1 more source

Molecular analysis of a large novel deletion causing α+-thalassemia

BMC Medical Genetics, 2019
Background α-thalassaemia is an inherited blood disorder caused by mutations in the α-globin gene cluster. Recognizing the pathogenic α-globin gene mutations associated with α-Thalassemia is of significant importance to thalassaemia’s diagnosis and ...
Jianlong Zhuang, Jie Tian, Jitao Wei, Yu Zheng, Qianmei Zhuang, Yuanbai Wang, Qingyue Xie, Shuhong Zeng, Geng Wang, Yanchao Pan, Yuying Jiang   +10 more
doaj   +1 more source

Chromosomal microarray analysis for prenatal diagnosis of uniparental disomy: a retrospective study

Molecular Cytogenetics
Background Chromosomal microarray analysis (CMA) is a valuable tool in prenatal diagnosis for the detection of chromosome uniparental disomy (UPD).
Chenxia Xu, Miaoyuan Li, Tiancai Gu, Fenghua Xie, Yanfang Zhang, Degang Wang, Jianming Peng   +6 more
doaj   +1 more source

The solitary median maxillary central incisor (SMMCI) syndrome: Associations, prenatal diagnosis, and outcomes

, 2019
Solitary median maxillary central incisor (SMMCI) syndrome is a complex disorder consisting of multiple, developmental defects involving midline structures of the head, which includes the cranial bones, the maxilla, and its container dentition ...
Raquel Garcia Delgado, Novoa Medina, Yeray, López Siles, Juan, Palma Milla, Carmen, Carmen Palma Milla, Juan Lopez Siles, Raquel Garcia Rodriguez, Julio Perez Gonzalez, Alfredo Santana Rodriguez, Medina Castellano, Margarita, Santana Rodríguez, Alfredo, García Hernandez, José Angel, Jose Angel Garcia Hernandez, García Delgado, Raquel, García Rodríguez, Raquel, Pérez Gonzalez, Julio, Loida Garcia Cruz, Yeray Novoa Medina, Margarita Medina Castellano, García Cruz, Loida   +19 more
core   +1 more source

Optical genome mapping of a complex structural rearrangement family line on chromosome 18

Hereditas
Background Complex chromosomal rearrangement (CCR) refers to a structural rearrangement involving at least two chromosomes or a minimum of three breakpoints.
Liyi Cai, Yuying Jiang, Na Zhang, Xinying Chen   +3 more
doaj   +1 more source

Noninvasive prenatal testing of trisomies 21 and 18 by massively parallel sequencing of maternal plasma DNA in twin pregnancies

, 2014
Objective The objective of this study is to assess the performance of noninvasive prenatal testing for trisomies 21 and 18 on the basis of massively parallel sequencing of cell-free DNA from maternal plasma in twin pregnancies.
Yi Zhou, Pan, Xiaoyu, Tze Kin Lau, Shi, Shuqiong, Zheng, Jing, Shi, Xiaomei, Weiwei Xie, Qun Fang, Wei Wang, Fuman Jiang, Yuan Wei, Fang Chen, Hui Jiang, Shengpei Chen, Li, Xuchao, Jiang, Fuman, Zhang, Chunlei, Su, Fengxia, Liu, Qiufang, Lau, Tze Kin, Lei, Dongzhu, Wu, Qichang, Xuchao Li, Gao, Ya, Xu, Chenming, Guo, Xiaoling, Yangyu Zhao, Shuqiong Shi, Wang, Wei, Huijuan Ge, Xie, Weiwei, Xiaoyu Pan, Xiaoling Guo, Qichang Wu, Wei, Yuan, Lifu Liu, Ge, Huijuan, Zhang, Hongyun, Fang, Qun, Fengxia Su, Min Chen, Xiaomei Shi, Jiang, Hui, Jing Zheng, Zhao, Yangyu, Qiufang Liu, Chunlei Zhang, Chen, Fang, Ya Gao, Chen, Min, Liu, Lifu, Zhou, Yi, Chenming Xu, Xuan Huang, Dongzhu Lei, Huang, Xuan, Chen, Shengpei, Hongyun Zhang   +57 more
core   +1 more source

Functional Validation of a Novel Deep Intronic IMPG2 Variant Causing Pseudoexon Activation in Retinitis Pigmentosa with Macular Involvement

The Application of Clinical Genetics
Guobing Zheng,1,* Chenxia Xu,1,* Fenghua Xie,1 Qiaoli Li,2 Zhanhui Ou,3 Degang Wang,1 Haijun Li1 1Prenatal Diagnosis Center, Boai Hospital of Zhongshan, Zhongshan, Guangdong, 528400, People’s Republic of China; 2Department of ...
Zheng G, Xu C, Xie F, Li Q, Ou Z, Wang D, Li H   +6 more
doaj  

Prenatal diagnosis and postnatal outcome of pelvic kidneys

, 2011
Objective To assess the prevalence of pelvic kidneys during prenatal sonographic examinations in the second and third trimesters and to examine postnatal ...
C. Batukan, Yuksel, Atıl, A. Yuksel, Batukan, C.   +3 more
core   +1 more source