Results 21 to 30 of about 8,582,303 (232)

A case of placental trisomy 18 mosaicism causing a false negative NIPT result

Molecular Cytogenetics, 2017
Background The non-invasive prenatal testing that evaluates circulating cell free DNA, and has been established as an additional pregnancy test for detecting the common fetal trisomies 21, 18 and 13 is rapidly revolutionizing prenatal screening as a ...
Jiexia Yang, Yiming Qi, Fangfang Guo, Yaping Hou, Haishan Peng, Dongmei Wang, Haoxin OY, Aihua Yin   +7 more
doaj   +1 more source

Clinical and molecular cytogenetic findings and pregnancy outcomes of fetuses with isochromosome Y

Molecular Cytogenetics, 2022
Background The mosaic forms and clinical phenotypes of fetuses with isochromosome Y are difficult to predict. Therefore, we summarized the cases of nine fetuses with isochromosome Y identified in prenatal diagnosis with a combination of molecular ...
Yiqun He, Li Guo, Laiping Zheng, Congmian Ren, Ting Wang, Jian Lu   +5 more
doaj   +1 more source

Post-Mortem diagnosis of dementia by informant interview. [PDF]

, 2010
The diagnosis of normal cognition or dementia in the Brazilian Brain Bank of the Aging Brain Study Group (BBBABSG) has relied on postmortem interview with an informant. Objectives:To ascertain the sensitivity and specificity of postmortem diagnosis based
Balbino, Érika Silvério, Battela, Camila, Brucki, Sonia Maria Dozzi, Campora, Flávia, Damin, Antonio Eduardo, Farfel, José Marcelo, Ferretti, Renata Eloah de Lucena, Grinberg, Lea Tenenholz, Jacob-Filho, Wilson, Leite, Renata Elaine Paraiso, Lima, Maria do Carmo de Ascenção, Moreira, Eliza Guccione, Morillo, Lilian Schafirovits, Nitrini, Ricardo, Pasqualucci, Carlos Augusto, Perroco, Tibor Rilho, Rosemberg, Sérgio, Ruiz, Lumena, Saldiva, Paulo Hilário Nascimento, Suemoto, Claudia Kimie   +19 more
core   +2 more sources

Potential influence of parental copy number variations on noninvasive prenatal testing (NIPT): two case reports

Molecular Cytogenetics, 2020
Background Small subchromosomal deletions and duplications caused by copy number variants (CNVs) can now be detected with noninvasive prenatal testing (NIPT) technology.
Yiming Qi, Jiexia Yang, Yaping Hou, Rong Hu, Dongmei Wang, Haishan Peng, Aihua Yin   +6 more
doaj   +1 more source

Prenatal diagnosis and genetic etiology analysis of talipes equinovarus by chromosomal microarray analysis

BMC Medical Genomics, 2023
Background With the advancement of molecular technology, fetal talipes equinovarus (TE) is believed to be not only associated with chromosome aneuploidy, but also related to chromosomal microdeletion and microduplication.
Xiaorui Xie, Baojia Huang, Linjuan Su, Meiying Cai, Yuqin Chen, Xiaoqing Wu, Liangpu Xu   +6 more
doaj   +1 more source

Quality of Medical Information Determine the Quality of Diagnosis Code [PDF]

, 2019
The accuracy of the diagnosis code has implications for future patient care planning, provision of health services and patient care costs. Therefore, this study has analyzed the influence of the quality of medical information on the quality of the ...
Ismayani, A. (Ani), Maryati, W. (Warsi), Rahayuningrum, I. O. (Indriyati)   +2 more
core   +3 more sources

A Graphene Oxide-Based Fluorescent Aptasensor for the Turn-on Detection of CCRF-CEM

Nanoscale Research Letters, 2018
A convenient, low-cost, and highly sensitive fluorescent aptasensor for detection of leukemia has been developed based on graphene oxide-aptamer complex (GO-apt).
Jie Tan, Zongqiang Lai, Liping Zhong, Zhenghua Zhang, Rong Zheng, Jing Su, Yong Huang, Panpan Huang, Hui Song, Nuo Yang, Sufang Zhou, Yongxiang Zhao   +11 more
doaj   +1 more source

Prenatal diagnosis of a rare β‐thalassemia gene －90 (C>T) (HBB: c.‐140 C>T) mutation associated with deletional Hb H disease (‐‐SEA/‐α4.2)

Molecular Genetics & Genomic Medicine, 2020
Background Hemoglobin H (Hb H) disease can be caused by compound heterozygosity for two different mutations or from homozygotes for mutations, and conventional genetic methods may lead to misdiagnosis when Hb H disease is combined with a rare β ...
Hou Qian, Jianlin Huang, Ji Xu, Weihua Zhao, Xiufeng Ye, Wenlan Liu   +5 more
doaj   +1 more source

Can trans-cerebellar diameter supersede other fetal biometry in measuring gestational age? A prospective study

The Egyptian Journal of Radiology and Nuclear Medicine, 2021
Background Estimation of gestational age plays a pivotal role in day to day clinical practice for appropriate management of newborn. The trans-cerebellar diameter can predict gestational age in cases of variations of fetal head shape such as ...
Rintu George, Umamageswari Amirthalingam, Mohamed Rafi Kathar Hussain, Vigneshwar Aditiya, A. M. Anand, Elamparidhi Padmanaban, N. Kulasekeran   +6 more
doaj   +1 more source

Risk factors, prenatal diagnosis, and outcome of posterior placenta accreta spectrum disorders in patients with placenta previa or low‐lying placenta: A multicenter study

Acta Obstetricia et Gynecologica Scandinavica
Introduction Placenta accreta spectrum (PAS) disorders occur when the definitive placenta develops within the uterus scar area. Although classically PAS develops in the anterior wall of the uterus mainly, it can also develop in the posterior uterine wall.
The ADoPAD (Antenatal Diagnosis of Placental Attachment Disorders) study group
doaj   +1 more source