Results 31 to 40 of about 30,446 (213)

Genetic testing in Marfan syndrome [PDF]

open access: yes, 2016
Genetic testing is aiding rapid diagnosis of Marfan syndrome as a basis for management of eye, heart and skeletal disease. The affected patient's mutation can be used as a basis for prenatal or postnatal diagnosis of offspring.
Aragon-Martin, JA, Child, AH, Sage, K
core   +1 more source

Prenatal Imaging [PDF]

open access: yesObstetrics & Gynecology, 2008
The Eunice Kennedy Shriver National Institute of Child Health and Human Development held a workshop on September 18-19, 2006, to summarize the available evidence on the role and performance of current fetal imaging technology and to establish a research agenda.
Uma M, Reddy   +2 more
openaire   +2 more sources

Pregnancy outcomes and early infancy physical growth of fetal situs inversus during the COVID-19 pandemic

open access: yesFrontiers in Medicine
ObjectiveThis research aimed to observe the pregnancy outcomes and early infancy physical growth of fetuses with situs inversus detected during the coronavirus disease 2019 (COVID-19) pandemic at two centers in South China.MethodsData were collected from
Yongke Zhang   +5 more
doaj   +1 more source

How do medical researchers make causal inferences? [PDF]

open access: yes, 2019
Bradford Hill (1965) highlighted nine aspects of the complex evidential situation a medical researcher faces when determining whether a causal relation exists between a disease and various conditions associated with it.
Dammann, Olaf   +2 more
core   +1 more source

Case Report: Prenatal Diagnosis of a Novel Variant c.251dupT (p.N87Kfs*6) in BCOR Resulting in Oculofaciocardiodental Syndrome Using Whole-Exome Sequencing

open access: yesFrontiers in Genetics, 2022
Background: Oculofaciocardiodental (OFCD) syndrome is an X-linked dominant syndrome caused by BCOR variants, which manifests only in females and presumed leading to male lethality.
Jianlong Zhuang   +9 more
doaj   +1 more source

Analysis of Down syndrome failed to be diagnosed after prenatal screening: A multicenter study. [PDF]

open access: yes, 2017
To analyze the characters of Down syndrome (DS) who failed to be diagnosed after prenatal screening and hope to be able to improve the programs of prenatal screening and reduce the missed diagnosis of DS.
Ding, Jie   +6 more
core   +1 more source

Complete involution of prenatally-diagnosed fetal scalp hemangioma

open access: yesTaiwanese Journal of Obstetrics & Gynecology, 2014
Objective: Scalp hemangioma is a rare benign fetal tumor. Here, we describe the detailed imaging features and natural course of a fetal scalp hemangioma until 1 year of age. Case report: We encountered a case of scalp hemangioma at 23 weeks’ gestation by
Eun Ju Jo   +5 more
doaj   +1 more source

Real-time virtual sonography in gynecology & obstetrics. literature's analysis and case series [PDF]

open access: yes, 2018
Fusion Imaging is a latest generation diagnostic technique, designed to combine ultrasonography with a second-tier technique such as magnetic resonance imaging and computer tomography.
Bellati, F   +6 more
core   +1 more source

The Clinical Value of Prenatal Ultrasonography in the Differential Diagnosis of Fetal Suprarenal Space-Occupying Lesions

open access: yesInternational Journal of Women's Health, 2022
Wen-Hua Zeng, Xian-Jin Wang, Xin Zhou Department of Ultrasound, Jiangxi Maternal and Child Health Hospital, Nanchang, People’s Republic of ChinaCorrespondence: Xin Zhou, Department of Ultrasound, Jiangxi Maternal and child Health Hospital, Nanchang ...
Zeng WH, Wang XJ, Zhou X
doaj  

Analysis of genetic testing in fetuses with congenital heart disease of single atria and/or single ventricle in a Chinese prenatal cohort

open access: yesBMC Pediatrics, 2023
Objective This study aimed to investigate the genetic etiologies of fetuses with single atria and/or ventricle (SA or/and SV) using different genetic detection methods in a Chinese prenatal cohort. Methods In this retrospective study, the various genetic
Min Li   +5 more
doaj   +1 more source

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