Zobrazeno 1 - 10
of 27
pro vyhledávání: '"L S, Chitty"'
Publikováno v:
Advances in clinical chemistry. 76
Prenatal diagnosis and screening have undergone rapid development in recent years, with advances in molecular technology driving the change. Noninvasive prenatal testing (NIPT) for Down syndrome as a highly sensitive screening test is now available w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6ff85158285805325af711959981d415
https://pubmed.ncbi.nlm.nih.gov/27645814
https://pubmed.ncbi.nlm.nih.gov/27645814
Publikováno v:
Ultrasound in obstetricsgynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology. 48(1)
To evaluate the diagnostic yield of postmortem magnetic resonance imaging (PM-MRI) compared with conventional autopsy in fetuses of early gestational age and low body weight.Fetuses of 31 weeks' gestation that underwent 1.5-T PM-MRI and conventional
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5b56320fdf9b694a6658ef01bb45f1e2
https://pubmed.ncbi.nlm.nih.gov/26183321
https://pubmed.ncbi.nlm.nih.gov/26183321
Publikováno v:
Clinical genetics. 85(4)
The aim of this study is to explore women's experiences of using newly developed non-invasive prenatal diagnosis (NIPD) for single gene disorders. Methods used in this study include qualitative one-to-one interviews with eight women with pregnancies
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::cbb94328768aac9241cc9efe50e70553
https://pubmed.ncbi.nlm.nih.gov/23631435
https://pubmed.ncbi.nlm.nih.gov/23631435
Publikováno v:
Prenatal diagnosis. 33(4)
Perinatal autopsy provides essential clinical information, including cause of death; yet, autopsy rates have steadily declined because of parental refusal. Technology now enables less invasive alternatives to traditional autopsy and may increase the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::86cc9ef0414926fcdcdefd5abe3acb43
https://pubmed.ncbi.nlm.nih.gov/23457031
https://pubmed.ncbi.nlm.nih.gov/23457031
Publikováno v:
Haemophilia : the official journal of the World Federation of Hemophilia. 18(4)
In pregnancies at risk of haemophilia, foetal sex determination is used to plan perinatal management and to guide the offer of invasive testing in pregnancies with a male foetus. Traditionally ultrasound from 12 weeks gestation has been used, but rec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::add649b2678e839deb79b068ee944b9b
https://pubmed.ncbi.nlm.nih.gov/21951674
https://pubmed.ncbi.nlm.nih.gov/21951674
Publikováno v:
Ultrasound in obstetricsgynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology. 37(3)
To improve the prenatal diagnosis of achondroplasia by constructing charts of fetal size, defining frequency of sonographic features and exploring the role of non-invasive molecular diagnosis based on cell-free fetal deoxyribonucleic acid (DNA) in ma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ebabc311e20bcfd39935808cae67e4aa
https://pubmed.ncbi.nlm.nih.gov/21105021
https://pubmed.ncbi.nlm.nih.gov/21105021
Publikováno v:
Prenatal diagnosis. 30(9)
The objective was to improve the prenatal diagnosis of Brachmann-de Lange syndrome (BDLS) by defining the sonographic criteria.Retrospective review of Fetal Medicine Unit (FMU) notes from 1998 to 2009 to identify all cases seen with a final diagnosis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7eacc97f655c5667a499b9f2d4e2013c
https://pubmed.ncbi.nlm.nih.gov/20665529
https://pubmed.ncbi.nlm.nih.gov/20665529
Publikováno v:
Prenatal diagnosis. 30(8)
For a variety of reasons, acceptance of traditional postmortem examination following foetal or neonatal death has declined significantly in recent years in the UK. Here, we review the case for the development of less invasive autopsy using combined i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c537bbfd50bc2e616265a01aa256da3c
https://pubmed.ncbi.nlm.nih.gov/20661883
https://pubmed.ncbi.nlm.nih.gov/20661883
Publikováno v:
Ultrasound in obstetricsgynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology. 21(4)
To assess the accuracy of ultrasound diagnosis of duplex kidneys in the fetus and to identify prognostic features of antenatal sonography associated with this diagnosis.Retrospective identification of cases with an antenatal diagnosis of duplex kidne
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::79cfb70095ab8ab44093ee86902768e0
https://pubmed.ncbi.nlm.nih.gov/12704741
https://pubmed.ncbi.nlm.nih.gov/12704741
Publikováno v:
BJU international. 89(1)
To evaluate prenatal diagnosis in facilitating prenatal counselling and planning optimal perinatal care for persistent cloaca, a complex malformation with variable presentation and a difficult reconstructive challenge for the paediatric urologist and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::23d6359ca8b26949a056f4891824a5cb
https://pubmed.ncbi.nlm.nih.gov/11849166
https://pubmed.ncbi.nlm.nih.gov/11849166