Search Results - "Chitty, L S"

Non-invasive prenatal determination of fetal sex: translating research into clinical practice by Hill, M, Finning, K, Martin, P, Hogg, J, Meaney, C, Norbury, G, Daniels, G, Chitty, LS

“…Hill M, Finning K, Martin P, Hogg J, Meaney C, Norbury G, Daniels G, Chitty LS. Non‐invasive prenatal determination of fetal sex: translating research into…”
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Non‐invasive prenatal testing for trisomy 21: a cross‐sectional survey of service users' views and likely uptake by Lewis, C, Hill, M, Silcock, C, Daley, R, Chitty, LS

“…Objective To assess the views and likely uptake of non‐invasive prenatal testing (NIPT) for trisomy 21 among potential service users in the UK. Design…”
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New aids for the non‐invasive prenatal diagnosis of achondroplasia: dysmorphic features, charts of fetal size and molecular confirmation using cell‐free fetal DNA in maternal plasma by Chitty, L. S., Griffin, D. R., Meaney, C., Barrett, A., Khalil, A., Pajkrt, E., Cole, T. J.

“…Objectives To improve the prenatal diagnosis of achondroplasia by constructing charts of fetal size, defining frequency of sonographic features and exploring…”
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Factors affecting uptake of postmortem examination in the prenatal, perinatal and paediatric setting by Lewis, C, Hill, M, Arthurs, OJ, Hutchinson, C, Chitty, LS, Sebire, NJ

“…Background Postmortem examination is the single most useful investigation in providing information to parents about why their baby or child died. Despite this,…”
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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 by Mone, F, McMullan, D J, Williams, D, Chitty, L S, Maher, E R, Kilby, M D

“…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…”
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Fetal exome sequencing for isolated increased nuchal translucency: should we be doing it? by Mellis, R, Eberhardt, RY, Hamilton, SJ, McMullan, DJ, Kilby, MD, Maher, ER, Hurles, ME, Giordano, JL, Aggarwal, V, Goldstein, DB, Wapner, RJ, Chitty, LS

“…Objective To evaluate the utility of prenatal exome sequencing (ES) for isolated increased nuchal translucency (NT) and to investigate factors that increase…”
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Non-invasive prenatal diagnosis for single gene disorders: experience of patients by Lewis, C., Hill, M., Chitty, L.S.

“…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…”
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Acceptability of a minimally invasive perinatal/paediatric autopsy: healthcare professionals' views and implications for practice by Ben-Sasi, K., Chitty, L. S., Franck, L. S., Thayyil, S., Judge-Kronis, L., Taylor, A. M., Sebire, N. J.

“…ABSTRACT Background Perinatal autopsy provides essential clinical information, including cause of death; yet, autopsy rates have steadily declined because of…”
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Availability of less invasive prenatal, perinatal and paediatric autopsy will improve uptake rates: a mixed‐methods study with bereaved parents by Lewis, C, Riddington, M, Hill, M, Arthurs, OJ, Hutchinson, JC, Chitty, LS, Bevan, C, Fisher, J, Ward, J, Sebire, NJ

“…Objective To investigate whether less invasive methods of autopsy would be acceptable to bereaved parents and likely to increase uptake. Design Mixed methods…”
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Minimally invasive fetal postmortem examination using magnetic resonance imaging and computerised tomography: current evidence and practical issues by Thayyil, S., Chitty, L. S., Robertson, N. J., Taylor, A. M., Sebire, N. J.

“…For a variety of reasons, acceptance of traditional postmortem examination following foetal or neonatal death has declined significantly in recent years in the…”
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In case you missed it: The Prenatal Diagnosis editors bring you the most significant advances of 2019 by Chitty, LS, Hui, L, Ghidini, A, Levy, B, Deprest, J, Van Mieghem, T, Bianchi, DW

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Authors' reply: Noninvasive prenatal testing for trisomy 21: when counselling is needed before responding to a survey by Lewis, C, Hill, M, Silcock, C, Daley, R, Chitty, LS

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Non-invasive prenatal diagnosis and screening for monogenic disorders by Scotchman, E., Shaw, J., Paternoster, B., Chandler, N., Chitty, L.S.

“…Cell-free fetal DNA (cffDNA) can be detected in the maternal circulation from 4 weeks gestation, and is present with cell-free maternal DNA at a level of…”
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COngenital heart disease and the Diagnostic yield with Exome sequencing (CODE) study: prospective cohort study and systematic review by Mone, F., Eberhardt, R. Y., Morris, R. K., Hurles, M. E., McMullan, D. J., Maher, E. R., Lord, J., Chitty, L. S., Giordano, J. L., Wapner, R. J., Kilby, M. D., Kan, A. S. Y., Chung, B. H. Y.

“…ABSTRACT Objective To determine the incremental yield of antenatal exome sequencing (ES) over chromosomal microarray analysis (CMA) or conventional karyotyping…”
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Non-invasive prenatal testing for Down's syndrome: pregnant women's views and likely uptake by Lewis, C, Silcock, C, Chitty, L S

“…The introduction of non-invasive prenatal testing (NIPT) for Down's syndrome into routine state-funded antenatal care in the UK is approaching. We conducted…”
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Diagnosis of Apert syndrome in the second-trimester using 2D and 3D ultrasound by David, A. L., Turnbull, C., Scott, R., Freeman, J., Bilardo, C. M., van Maarle, M., Chitty, L. S.

“…Objectives To illustrate how Apert syndrome, a rare autosomal dominant genetic syndrome, can be detected in the second‐trimester of pregnancy using 2D…”
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Cell‐free fetal DNA: the new tool in fetal medicine by Everett, T. R., Chitty, L. S.

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Cell-Free Fetal DNA Testing for Prenatal Diagnosis by Drury, S, Hill, M, Chitty, L S

“…Prenatal diagnosis and screening have undergone rapid development in recent years, with advances in molecular technology driving the change. Noninvasive…”
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PREIMPLANTATION GENETIC TESTING: Non-invasive prenatal testing for aneuploidy, copy-number variants and single-gene disorders by Shaw, J, Scotchman, E, Chandler, N, Chitty, L S

“…The discovery of cell-free fetal DNA (cffDNA) in maternal plasma has enabled a paradigm shift in prenatal testing, allowing for safer, earlier detection of…”
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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 by Mone, F., Eberhardt, R. Y., Hurles, M. E., Mcmullan, D. J., Maher, E. R., Lord, J., Chitty, L. S., Dempsey, E., Homfray, T., Giordano, J. L., Wapner, R. J., Sun, L., Sparks, T. N., Norton, M. E., Kilby, M. D.

“…ABSTRACT Objective To determine the incremental yield of exome sequencing (ES) over chromosomal microarray analysis (CMA) or karyotyping in prenatally…”
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