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.
![[thumbnail of pd4066.pdf]](https://discovery.ucl.ac.uk/style/images/fileicons/application_pdf.png) Preview |
PDF
pd4066.pdf Download (298kB) |
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 > School of Life and Medical 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 |
Archive Staff Only
 |
View Item |
