Výsledky vyhledávání

Fetal exome sequencing for isolated increased nuchal translucency: should we be doing it?

Autor: Mellis, R, Eberhardt, RY, Hamilton, SJ, PAGE Consortium, McMullan, DJ, Kilby, MD, Maher, ER, Hurles, ME, Giordano, JL, Aggarwal, V, Goldstein, DB, Wapner, RJ, Chitty, LS

Funder: National Institute for Health Research (NIHR) Biomedical Research Centre, Great Ormond Street Hospital; Id: http://dx.doi.org/10.13039/501100019256
OBJECTIVE: To evaluate the utility of prenatal exome sequencing (ES) for isolated increas

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d927ba68607661de24123e35265fd97
https://www.repository.cam.ac.uk/handle/1810/327974

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Fetal hydrops and the Incremental yield of Next-generation sequencing over standard prenatal Diagnostic testing (FIND) study: prospective cohort study and meta-analysis

Autor: Mone, F, Eberhardt, RY, Hurles, ME, Mcmullan, DJ, Maher, ER, Lord, J, Chitty, LS, Dempsey, E, Homfray, T, Giordano, JL, Wapner, RJ, Sun, L, Sparks, TN, Norton, ME, Kilby, MD

OBJECTIVE: To determine the incremental yield of exome sequencing (ES) over chromosomal microarray analysis (CMA) or karyotyping in prenatally diagnosed non-immune hydrops fetalis (NIHF). METHODS: A prospective cohort study (comprising an extended gr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c94342afc479c71541ed3bbb40f01394

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Evidence to Support the Clinical Utility of Prenatal Exome Sequencing in Evaluation of the Fetus with Congenital Anomalies: Scientific Impact Paper No. 64 [February] 2021

Autor: Mone, F, McMullan, DJ, Williams, D, Chitty, LS, Maher, ER, Kilby, MD, Fetal Genomics Steering Group of the British Society for Genetic Medicine, Royal College of Obstetricians and Gynaecologists

Structural differences (congenital anomalies) in the makeup of the baby's heart, brain and other organs are found on antenatal ultrasound scans in up to 3% of pregnancies. These often have a genetic cause, arising because of changes in the chromosome

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1804a07c8a6afc0c8f5017d618fd1c00

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COngenital heart disease and the Diagnostic yield with Exome sequencing (CODE) study: prospective cohort study and systematic review

Autor: Mone, F, Eberhardt, RY, Morris, RK, Hurles, ME, McMullan, DJ, Maher, ER, Lord, J, Chitty, LS, Giordano, JL, Wapner, RJ, Kilby, MD, CODE Study Collaborators

OBJECTIVE: To determine the incremental yield of antenatal exome sequencing (ES) over chromosomal microarray analysis (CMA) or conventional karyotyping in prenatally diagnosed congenital heart disease (CHD). METHODS: A prospective cohort study of 197

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4d2066530d2476b9af46cf720f84d37
https://www.repository.cam.ac.uk/handle/1810/310143

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Defining vitamin D status using multi-metabolite mathematical modelling: A pregnancy perspective

Autor: Beentjes, CHL, Taylor-King, JP, Bayani, A, Davis, CN, Dunster, JL, Jabbari, S, Mirams, GR, Jenkinson, C, Kilby, MD, Hewison, M, Tamblyn, JA

Vitamin D deficiency is linked to adverse pregnancy outcomes such as pre-eclampsia (PET) but remains defined by serum measurement of 25-hydroxyvitamin D3 (25(OH)D3) alone. To identify broader changes in vitamin D metabolism during normal and PET preg

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::c3d24c35e0fb9fe038f890b0c310f557
https://doi.org/10.1016/j.jsbmb.2019.03.024

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Akademický článek

Evidence to Support the Clinical Utility of Prenatal Exome Sequencing in Evaluation of the Fetus with Congenital Anomalies: Scientific Impact Paper No. 64 [February] 2021.

Autor: Mone, F, McMullan, DJ, Williams, D, Chitty, LS, Maher, ER, Kilby, MD

Publikováno v: BJOG: An International Journal of Obstetrics & Gynaecology; Aug2021, Vol. 128 Issue 9, pe39-e50, 12p

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Akademický článek

The role of next-generation sequencing in the investigation of ultrasound-identified fetal structural anomalies.

Autor: Kilby, MD, Kilby, M D

Publikováno v: BJOG: An International Journal of Obstetrics & Gynaecology; Jan2021, Vol. 128 Issue 2, p420-429, 10p

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Association of maternal serum PAPP-A levels, nuchal translucency and crown rump length in first trimester with adverse pregnancy outcomes: Retrospective cohort study

Autor: Bilagi, A, Burke, DL, Riley, RD, Mills, I, Kilby, MD, Morris, RK

OBJECTIVE: Are first trimester serum pregnancy-associated plasma protein-A (PAPP-A), nuchal translucency (NT) and crown rump length (CRL) prognostic factors for adverse pregnancy outcomes? METHOD: Retrospective cohort women, singleton pregnancies (UK

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::c666089073215ecb422adf5cbd9b5307

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Akademický článek

Cause of intrauterine and neonatal death in twin pregnancies (CoDiT): development of a novel classification system.

Autor: Gulati, N, Mackie, FL, Cox, P, Marton, T, Heazell, AEP, Morris, RK, Kilby, MD, Mackie, F L, Morris, R K, Kilby, M D

Publikováno v: BJOG: An International Journal of Obstetrics & Gynaecology; Nov2020, Vol. 127 Issue 12, p1507-1515, 9p

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