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Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA.

Chitty, LS; Khalil, A; Barrett, AN; Pajkrt, E; Griffin, DR; Cole, TJ; (2013) Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA. Prenat Diagn , 33 (5) 416 - 423. 10.1002/pd.4066. Green open access

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Abstract

To improve the prenatal diagnosis of thanatophoric dysplasia by defining the change in fetal size across gestation and the frequency of sonographic features, and developing non-invasive molecular genetic diagnosis based on cell-free fetal DNA (cffDNA) in maternal plasma.

Type: Article
Title: Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA.
Location: England
Open access status: An open access version is available from UCL Discovery
DOI: 10.1002/pd.4066
Publisher version: http://dx.doi.org/10.1002/pd.4066
Language: English
Additional information: © 2013 The Authors. Prenatal Diagnosis published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
Keywords: Adult, DNA, DNA Mutational Analysis, Female, Femur, Fetus, Gestational Age, Growth Charts, Humans, Pregnancy, Prenatal Diagnosis, Receptor, Fibroblast Growth Factor, Type 3, Retrospective Studies, Sensitivity and Specificity, Thanatophoric Dysplasia, Ultrasonography, Prenatal
UCL classification: UCL
UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Population, Policy and Practice Dept
URI: https://discovery.ucl.ac.uk/id/eprint/1386495
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